#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
RSC1A1	6248	broad.mit.edu	37	1	15986589	15986589	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:15986589G>T	ENST00000345034.1	+	1	226	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	76					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)	p.D76Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTACAAGATCTTTCTGA	0.428																																						uc010obn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)GAT>TAT		regulatory solute carrier protein, family 1,							105.0	108.0	107.0					1																	15986589		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986589G>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.226G>T	1.37:g.15986589G>T	ENSP00000341963:p.Asp76Tyr					DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR	p.D76Y	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	226	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	76					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.226G>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	9.312	1.055867	0.19907	.	.	ENSG00000215695	ENST00000345034	T	0.46063	0.88	5.83	4.92	0.64577	.	0.738763	0.11525	N	0.555323	T	0.43545	0.1252	N	0.24115	0.695	0.09310	N	1	D	0.57571	0.98	P	0.58873	0.847	T	0.20075	-1.0286	10	0.29301	T	0.29	-1.6102	8.9015	0.35497	0.0801:0.1912:0.7287:0.0	.	76	Q92681	RSCA1_HUMAN	Y	76	ENSP00000341963:D76Y	ENSP00000341963:D76Y	D	+	1	0	RSC1A1	15859176	0.230000	0.23740	0.064000	0.19789	0.050000	0.14768	1.892000	0.39748	1.479000	0.48272	-0.258000	0.10820	GAT		PASS	0.428	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		58	143	58	143	---	---	---	---
ALDH4A1	8659	broad.mit.edu	37	1	19209686	19209686	+	Missense_Mutation	SNP	C	C	T	rs200662086		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:19209686C>T	ENST00000375341.3	-	7	867	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V144M|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V204M|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V204M|ALDH4A1_ENST00000454547.1_5'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	204					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.V204M(2)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCCGCCACGAAGCCCTGG	0.677																																						uc001bbb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(610-612)GTG>ATG		aldehyde dehydrogenase 4A1 isoform a precursor	NADH(DB00157)						38.0	41.0	40.0					1																	19209686		2203	4298	6501	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19209686C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.610G>A	1.37:g.19209686C>T	ENSP00000364490:p.Val204Met					ALDH4A1_uc010ocu.1_Missense_Mutation_p.V144M|ALDH4A1_uc001bbc.2_Missense_Mutation_p.V204M	p.V204M	NM_170726	NP_733844	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	886	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	204					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.610G>A	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355114	0.82243	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.54	5.54	0.83059	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.058619	0.64402	D	0.000002	T	0.66587	0.2804	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.71945	-0.4439	10	0.87932	D	0	-32.3878	11.5121	0.50498	0.0:0.9177:0.0:0.0823	.	204	P30038	AL4A1_HUMAN	M	204;204;204;144;188;102;144;188	ENSP00000290597:V204M;ENSP00000364490:V204M;ENSP00000446071:V204M;ENSP00000442988:V144M;ENSP00000393209:V188M	ENSP00000290597:V204M	V	-	1	0	ALDH4A1	19082273	1.000000	0.71417	0.981000	0.43875	0.732000	0.41865	6.878000	0.75567	2.606000	0.88127	0.655000	0.94253	GTG		PASS	0.677	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			30	22	30	22	---	---	---	---
BEST4	266675	broad.mit.edu	37	1	45253092	45253092	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:45253092G>A	ENST00000372207.3	-	2	198	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	67						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R67W(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					TTGCAGTACCGGGCCACCTGA	0.587																																						uc001cmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)CGG>TGG		bestrophin 4							223.0	223.0	223.0					1																	45253092		2203	4300	6503	SO:0001583	missense	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45253092G>A	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.199C>T	1.37:g.45253092G>A	ENSP00000361281:p.Arg67Trp						p.R67W	NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN			2	248	-	Acute lymphoblastic leukemia(166;0.155)		67			Extracellular (Potential).		Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	c.199C>T	CCDS514.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864835	0.71949	.	.	ENSG00000142959	ENST00000372207	D	0.98585	-5.01	5.0	5.0	0.66597	.	0.336013	0.29087	N	0.013187	D	0.97636	0.9225	L	0.57536	1.79	0.39830	D	0.972956	D	0.67145	0.996	P	0.55303	0.773	D	0.97050	0.9763	10	0.46703	T	0.11	-4.6178	9.7373	0.40395	0.0954:0.0:0.9046:0.0	.	67	Q8NFU0	BEST4_HUMAN	W	67	ENSP00000361281:R67W	ENSP00000361281:R67W	R	-	1	2	BEST4	45025679	0.074000	0.21230	0.994000	0.49952	0.962000	0.63368	1.963000	0.40452	2.476000	0.83614	0.561000	0.74099	CGG		PASS	0.587	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		174	88	174	88	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93651976	93651976	+	Silent	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:93651976G>A	ENST00000343253.7	+	4	880	c.378G>A	c.(376-378)caG>caA	p.Q126Q	CCDC18_ENST00000401026.3_Silent_p.Q126Q|CCDC18_ENST00000557479.1_Silent_p.Q244Q|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	126								p.Q244Q(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTAGGCAACAGAATGCTTGTT	0.328																																						uc001dpq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(730-732)CAG>CAA		sarcoma antigen NY-SAR-41							71.0	67.0	68.0					1																	93651976		1814	4078	5892	SO:0001819	synonymous_variant	343099							g.chr1:93651976G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.378G>A	1.37:g.93651976G>A							p.Q244Q	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	4	900	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	126			Potential.		Q6ZU17	Silent	SNP	ENST00000343253.7	37	c.732G>A		.	.	.	.	.	.	.	.	.	.	G	8.849	0.944141	0.18281	.	.	ENSG00000122483	ENST00000370276	.	.	.	5.7	-4.17	0.03857	.	.	.	.	.	T	0.35508	0.0934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48980	-0.8986	4	.	.	.	.	7.8435	0.29412	0.5209:0.0:0.3693:0.1098	.	.	.	.	K	180	.	.	R	+	2	0	CCDC18	93424564	0.974000	0.33945	0.990000	0.47175	0.996000	0.88848	-0.086000	0.11233	-0.341000	0.08376	0.579000	0.79373	AGA		PASS	0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		94	38	94	38	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99772055	99772055	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:99772055A>G	ENST00000370185.3	+	7	2278	c.1781A>G	c.(1780-1782)aAg>aGg	p.K594R	LPPR4_ENST00000370184.1_Missense_Mutation_p.K436R|LPPR4_ENST00000457765.1_Missense_Mutation_p.K536R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		594					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.K594R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGCCCCAAGAACACTGAA	0.552																																						uc001dse.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1780-1782)AAG>AGG		plasticity related gene 1							66.0	66.0	66.0					1																	99772055		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772055A>G																												ENST00000370185.3:c.1781A>G	1.37:g.99772055A>G	ENSP00000359204:p.Lys594Arg					LPPR4_uc010oue.1_Missense_Mutation_p.K536R	p.K594R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1887	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	594					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1781A>G	CCDS757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.87|12.87	2.067210|2.067210	0.36470|0.36470	.|.	.|.	ENSG00000117600|ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184|ENST00000263178	T;T;T|.	0.26957|.	2.26;2.25;1.7|.	5.9|5.9	4.76|4.76	0.60689|0.60689	.|.	0.105009|.	0.64402|.	D|.	0.000005|.	T|T	0.50667|0.50667	0.1629|0.1629	L|L	0.55990|0.55990	1.75|1.75	0.43793|0.43793	D|D	0.996339|0.996339	B;B|.	0.12013|.	0.0;0.005|.	B;B|.	0.12837|.	0.001;0.008|.	T|T	0.50617|0.50617	-0.8807|-0.8807	9|5	.|.	.|.	.|.	-28.6659|-28.6659	13.2684|13.2684	0.60148|0.60148	0.8675:0.1325:0.0:0.0|0.8675:0.1325:0.0:0.0	.|.	536;594|.	E7EPS1;Q7Z2D5|.	.;LPPR4_HUMAN|.	R|G	594;536;436|560	ENSP00000359204:K594R;ENSP00000394913:K536R;ENSP00000359203:K436R|.	.|.	K|R	+|+	2|1	0|2	RP4-788L13.1|RP4-788L13.1	99544643|99544643	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	5.518000|5.518000	0.67068|0.67068	1.035000|1.035000	0.39972|0.39972	0.533000|0.533000	0.62120|0.62120	AAG|AGA		PASS	0.552	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			15	58	15	58	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117150836	117150836	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:117150836G>A	ENST00000369486.3	-	5	1715	c.950C>T	c.(949-951)tCc>tTc	p.S317F	IGSF3_ENST00000369483.1_Missense_Mutation_p.S317F|IGSF3_ENST00000318837.6_Missense_Mutation_p.S317F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	317	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.S317F(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAAGGCCCAGGAGACAGCAAA	0.597																																						uc001egr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(949-951)TCC>TTC		immunoglobulin superfamily, member 3 isoform 2							9.0	9.0	9.0					1																	117150836		2163	4221	6384	SO:0001583	missense	3321					integral to membrane		g.chr1:117150836G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.950C>T	1.37:g.117150836G>A	ENSP00000358498:p.Ser317Phe					IGSF3_uc001egq.1_Missense_Mutation_p.S317F|IGSF3_uc001egs.1_5'UTR	p.S317F	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1655	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	317			Ig-like C2-type 3.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.950C>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344858	0.82022	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.67698	-0.28;-0.28;-0.28	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.71364	-0.4615	10	0.72032	D	0.01	-39.8011	15.4322	0.75108	0.0:0.0:1.0:0.0	.	317;317	O75054;A6NJZ6	IGSF3_HUMAN;.	F	317	ENSP00000358498:S317F;ENSP00000358495:S317F;ENSP00000321184:S317F	ENSP00000321184:S317F	S	-	2	0	IGSF3	116952359	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.834000	0.92094	2.571000	0.86741	0.557000	0.71058	TCC		PASS	0.597	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		21	23	21	23	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118623790	118623790	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:118623790G>C	ENST00000336338.5	-	15	2208	c.2143C>G	c.(2143-2145)Cct>Gct	p.P715A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	715						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.P715A(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTATTATCAGGGACTGAGAGT	0.433																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2143-2145)CCT>GCT		sperm associated antigen 17							185.0	170.0	175.0					1																	118623790		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118623790G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2143C>G	1.37:g.118623790G>C	ENSP00000337804:p.Pro715Ala						p.P715A	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	15	2211	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	715					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2143C>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	1.825	-0.471215	0.04445	.	.	ENSG00000155761	ENST00000336338	T	0.16743	2.32	3.83	-6.88	0.01665	.	1.791840	0.02341	N	0.074887	T	0.04452	0.0122	L	0.40543	1.245	0.09310	N	1	B	0.24426	0.103	B	0.25291	0.059	T	0.10706	-1.0618	10	0.12430	T	0.62	.	15.2562	0.73588	0.8483:0.0:0.1517:0.0	.	715	Q6Q759	SPG17_HUMAN	A	715	ENSP00000337804:P715A	ENSP00000337804:P715A	P	-	1	0	SPAG17	118425313	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.991000	0.03728	-1.809000	0.01232	-0.229000	0.12294	CCT		PASS	0.433	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		49	302	49	302	---	---	---	---
CIART	148523	broad.mit.edu	37	1	150256018	150256018	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:150256018A>T	ENST00000290363.5	+	1	790	c.341A>T	c.(340-342)gAg>gTg	p.E114V	C1orf51_ENST00000369094.1_Missense_Mutation_p.E26V|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.E114V	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		114					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)	p.E114V(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTACCACAGAGGGAGACCTG	0.527																																						uc001euh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GAG>GTG		hypothetical protein LOC148523							81.0	76.0	77.0					1																	150256018		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150256018A>T																												ENST00000290363.5:c.341A>T	1.37:g.150256018A>T	ENSP00000290363:p.Glu114Val					C1orf51_uc001eui.2_Missense_Mutation_p.E26V|C1orf51_uc001euj.2_Missense_Mutation_p.E114V	p.E114V	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	477	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		114					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.341A>T	CCDS949.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900212	0.72754	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	4.97	4.97	0.65823	.	0.140407	0.47455	D	0.000231	T	0.63117	0.2484	M	0.64997	1.995	0.44595	D	0.997562	D	0.76494	0.999	D	0.67382	0.951	T	0.68808	-0.5311	9	0.87932	D	0	-23.1839	10.9803	0.47490	1.0:0.0:0.0:0.0	.	114	Q8N365	CA051_HUMAN	V	26;114;26;26;114	.	ENSP00000290363:E114V	E	+	2	0	C1orf51	148522642	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.561000	0.67339	2.085000	0.62840	0.533000	0.62120	GAG		PASS	0.527	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			38	283	38	283	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165370528	165370528	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:165370528A>G	ENST00000359842.5	-	10	1666	c.1364T>C	c.(1363-1365)aTg>aCg	p.M455T		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	455	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.M455T(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GGTCTCCAACATCTCCATGAG	0.612																																						uc001gda.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1363-1365)ATG>ACG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						100.0	96.0	97.0					1																	165370528		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370528A>G	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1364T>C	1.37:g.165370528A>G	ENSP00000352900:p.Met455Thr						p.M455T	NM_006917	NP_008848	P48443	RXRG_HUMAN			10	1664	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		455			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1364T>C	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738659	0.69304	.	.	ENSG00000143171	ENST00000359842	T	0.74315	-0.83	4.62	4.62	0.57501	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	H	0.97131	3.945	0.51767	D	0.999934	D	0.54772	0.968	D	0.66602	0.945	D	0.91930	0.5554	9	0.87932	D	0	.	12.9834	0.58577	1.0:0.0:0.0:0.0	.	455	P48443	RXRG_HUMAN	T	455	ENSP00000352900:M455T	ENSP00000352900:M455T	M	-	2	0	RXRG	163637152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.799000	0.91895	1.926000	0.55796	0.454000	0.30748	ATG		PASS	0.612	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		27	77	27	77	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167095879	167095879	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr1:167095879C>T	ENST00000361200.2	+	6	1677	c.1511C>T	c.(1510-1512)gCg>gTg	p.A504V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.A504V|DUSP27_ENST00000443333.1_Missense_Mutation_p.A504V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	504					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A504V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGAGGAGGCGGCAGACAGG	0.602																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1510-1512)GCG>GTG		dual specificity phosphatase 27							53.0	49.0	51.0					1																	167095879		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095879C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1511C>T	1.37:g.167095879C>T	ENSP00000354483:p.Ala504Val						p.A504V	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1511	+			504					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1511C>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244989	0.22796	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03152	4.03;4.03;4.03	0.541	-0.74	0.11115	.	2.299490	0.02282	N	0.069483	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999999	D	0.53312	0.959	P	0.45971	0.499	T	0.34650	-0.9820	9	0.36615	T	0.2	-0.2898	.	.	.	.	504	Q5VZP5	DUS27_HUMAN	V	504	ENSP00000354483:A504V;ENSP00000271385:A504V;ENSP00000404874:A504V	ENSP00000271385:A504V	A	+	2	0	DUSP27	165362503	0.653000	0.27358	0.220000	0.23810	0.142000	0.21351	0.429000	0.21412	-0.337000	0.08426	-0.332000	0.08345	GCG		PASS	0.602	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		11	41	11	41	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99013208	99013208	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr2:99013208C>A	ENST00000272602.2	+	7	1614	c.1575C>A	c.(1573-1575)ggC>ggA	p.G525G	CNGA3_ENST00000436404.2_Silent_p.G507G|CNGA3_ENST00000393504.1_Silent_p.G525G|CNGA3_ENST00000409937.1_Silent_p.G529G			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	525			G -> D (in ACHM2). {ECO:0000269|PubMed:11536077}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.G525G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCAACGAGGGCAAGCTGGCCG	0.552																																						uc002syt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1573-1575)GGC>GGA		cyclic nucleotide gated channel alpha 3 isoform							114.0	106.0	108.0					2																	99013208		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013208C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1575C>A	2.37:g.99013208C>A						CNGA3_uc002syu.2_Silent_p.G507G|CNGA3_uc010fij.2_Silent_p.G529G	p.G525G	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	1992	+			525		G -> D (in ACHM2).	cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1575C>A	CCDS2034.1																																																																																				PASS	0.552	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		77	118	77	118	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136547235	136547235	+	Silent	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr2:136547235G>T	ENST00000264162.2	-	16	5479	c.5469C>A	c.(5467-5469)atC>atA	p.I1823I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1823	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.I1823I(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGCTTTGGGGATCCTTGGCA	0.537																																						uc002tuu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(5467-5469)ATC>ATA		lactase-phlorizin hydrolase preproprotein							123.0	118.0	120.0					2																	136547235		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136547235G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5469C>A	2.37:g.136547235G>T							p.I1823I	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	16	5480	-			1823			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.5469C>A	CCDS2178.1																																																																																				PASS	0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		24	143	24	143	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179633590	179633590	+	Silent	SNP	T	T	A	rs377447652		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr2:179633590T>A	ENST00000591111.1	-	38	9197	c.8973A>T	c.(8971-8973)acA>acT	p.T2991T	TTN_ENST00000589042.1_Silent_p.T2991T|TTN_ENST00000342992.6_Silent_p.T2991T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T2945T|TTN_ENST00000460472.2_Silent_p.T2945T|TTN_ENST00000360870.5_Silent_p.T2991T|TTN_ENST00000342175.6_Silent_p.T2945T			Q8WZ42	TITIN_HUMAN	titin	13323	Ig-like 17.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T2991T(3)|p.T2945T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATAGTTCACTGTCACCTCAA	0.388																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8971-8973)ACA>ACT		titin isoform N2-A							170.0	155.0	160.0					2																	179633590		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633590T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8973A>T	2.37:g.179633590T>A						TTN_uc010zfh.1_Silent_p.T2945T|TTN_uc010zfi.1_Silent_p.T2945T|TTN_uc010zfj.1_Silent_p.T2945T|TTN_uc002unb.2_Silent_p.T2991T	p.T2991T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		38	9197	-			2991					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.8973A>T																																																																																					PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	97	20	97	---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237240050	237240050	+	Silent	SNP	C	C	T	rs530031680		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr2:237240050C>T	ENST00000409907.3	-	18	2599	c.2325G>A	c.(2323-2325)gcG>gcA	p.A775A	IQCA1_ENST00000431676.2_Silent_p.A734A|IQCA1_ENST00000309507.5_Silent_p.A772A	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	775							ATP binding (GO:0005524)	p.A775A(1)|p.A783A(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGCTGGTTATCGCCGTAATAA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20118	0.0		0.0	False		,,,				2504	0.0					uc002vvz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2323-2325)GCG>GCA		IQ motif containing with AAA domain 1							174.0	178.0	177.0					2																	237240050		2183	4295	6478	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237240050C>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.2325G>A	2.37:g.237240050C>T						IQCA1_uc002vwb.2_Silent_p.A783A|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.A734A	p.A775A	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			18	2507	-			775					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.2325G>A	CCDS46549.1																																																																																				PASS	0.463	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		57	142	57	142	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25674273	25674273	+	Missense_Mutation	SNP	C	C	G	rs372468052		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:25674273C>G	ENST00000264331.4	-	9	1038	c.1039G>C	c.(1039-1041)Gtg>Ctg	p.V347L	TOP2B_ENST00000435706.2_Missense_Mutation_p.V342L	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	347					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.V342L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	ACATAATCCACGTGCCGTCCA	0.318																																						uc011awn.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1039-1041)GTG>CTG		DNA topoisomerase II, beta isozyme							142.0	135.0	137.0					3																	25674273		1847	4088	5935	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674273C>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1039G>C	3.37:g.25674273C>G	ENSP00000264331:p.Val347Leu					TOP2B_uc003cdj.2_Missense_Mutation_p.V342L	p.V347L	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			9	1082	-			347					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1039G>C		.	.	.	.	.	.	.	.	.	.	C	21.8	4.202626	0.79127	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.48201	0.82;0.82	5.4	5.4	0.78164	.	0.113531	0.64402	D	0.000014	T	0.73938	0.3651	M	0.93241	3.395	0.80722	D	1	D	0.58268	0.982	P	0.56398	0.797	T	0.82133	-0.0608	10	0.87932	D	0	-20.234	19.1565	0.93511	0.0:1.0:0.0:0.0	.	342	Q02880-2	.	L	342;347;342	ENSP00000396704:V342L;ENSP00000264331:V347L	ENSP00000264331:V347L	V	-	1	0	TOP2B	25649277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.962000	0.49176	2.513000	0.84729	0.650000	0.86243	GTG		PASS	0.318	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				40	81	40	81	---	---	---	---
ACKR2	1238	broad.mit.edu	37	3	42906815	42906815	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:42906815C>T	ENST00000422265.1	+	3	996	c.821C>T	c.(820-822)aCg>aTg	p.T274M	ACKR2_ENST00000442925.1_Missense_Mutation_p.T274M|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.T274M|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	274					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.T274M(1)									TTTCTGCATACGCTGTTGGAC	0.537																																						uc003cme.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(820-822)ACG>ATG		chemokine binding protein 2							227.0	187.0	201.0					3																	42906815		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906815C>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.821C>T	3.37:g.42906815C>T	ENSP00000416996:p.Thr274Met					CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.T274M|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.T274M	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	1000	+			274			Extracellular (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.821C>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111439	0.20714	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.37915	1.17;1.17;1.17	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.171825	0.27460	N	0.019261	T	0.39733	0.1089	M	0.63843	1.955	0.80722	D	1	D	0.53885	0.963	P	0.45138	0.471	T	0.29058	-1.0024	9	.	.	.	.	12.7604	0.57361	0.0:0.8346:0.1654:0.0	.	274	O00590	CCBP2_HUMAN	M	274	ENSP00000396150:T274M;ENSP00000416996:T274M;ENSP00000273145:T274M	.	T	+	2	0	CCBP2	42881819	0.002000	0.14202	0.933000	0.37362	0.080000	0.17528	1.772000	0.38552	2.335000	0.79485	0.563000	0.77884	ACG		PASS	0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		64	198	64	198	---	---	---	---
MON1A	84315	broad.mit.edu	37	3	49949259	49949259	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:49949259C>T	ENST00000417270.1	-	4	1030	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.A202T|MON1A_ENST00000455683.2_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	105								p.A105T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGGTCCCGGGCCACACCCGTC	0.667																																						uc003cxz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(604-606)GCC>ACC		MON1 homolog A isoform a							43.0	44.0	43.0					3																	49949259		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49949259C>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.337G>A	3.37:g.49949259C>T	ENSP00000399613:p.Ala113Thr					MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	p.A202T	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	730	-			105					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.604G>A		.	.	.	.	.	.	.	.	.	.	C	28.7	4.943768	0.92593	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.39	5.39	0.77823	.	0.391207	0.29814	N	0.011125	T	0.46964	0.1420	L	0.51422	1.61	0.32457	N	0.544639	P	0.52842	0.956	P	0.45071	0.468	T	0.59820	-0.7382	8	.	.	.	-18.8591	14.7207	0.69302	0.0:0.8555:0.1445:0.0	.	105	Q86VX9	MON1A_HUMAN	T	202;113	.	.	A	-	1	0	MON1A	49924263	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.759000	0.68785	2.517000	0.84864	0.561000	0.74099	GCC		PASS	0.667	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		44	29	44	29	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63967989	63967989	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:63967989T>C	ENST00000295900.6	+	7	1430	c.880T>C	c.(880-882)Tca>Cca	p.S294P	ATXN7_ENST00000398590.3_Missense_Mutation_p.S294P|ATXN7_ENST00000487717.1_Missense_Mutation_p.S294P|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000538065.1_Missense_Mutation_p.S294P|ATXN7_ENST00000484332.1_Missense_Mutation_p.S149P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	294					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S294P(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TAACTGCCCCTCAATACCAAA	0.507																																						uc003dlw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(880-882)TCA>CCA		ataxin 7 isoform a							93.0	92.0	93.0					3																	63967989		1946	4135	6081	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63967989T>C	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.880T>C	3.37:g.63967989T>C	ENSP00000295900:p.Ser294Pro					ATXN7_uc003dlv.2_Missense_Mutation_p.S294P|ATXN7_uc010hnv.2_Missense_Mutation_p.S294P|ATXN7_uc011bfn.1_Missense_Mutation_p.S149P	p.S294P	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	7	1433	+		Prostate(884;0.0181)	294					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.880T>C	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873872	0.91664	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.17528	2.27;2.29;2.29;2.27;2.28	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.994;0.998;0.991	T	0.01613	-1.1312	10	0.35671	T	0.21	-9.5463	16.3634	0.83296	0.0:0.0:0.0:1.0	.	149;294;294	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	P	294;294;294;294;149	ENSP00000381590:S294P;ENSP00000295900:S294P;ENSP00000420234:S294P;ENSP00000439585:S294P;ENSP00000428277:S149P	ENSP00000295900:S294P	S	+	1	0	ATXN7	63943029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.936000	0.70153	2.270000	0.75569	0.459000	0.35465	TCA		PASS	0.507	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		3	48	3	48	---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88205613	88205613	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:88205613T>C	ENST00000318887.3	+	3	1128	c.818T>C	c.(817-819)cTg>cCg	p.L273P	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	273					apoptotic process (GO:0006915)			p.L271P(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTTATCAACCTGAAAATTATG	0.378																																						uc003dqw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)CTG>CCG		hypothetical protein LOC285237							77.0	82.0	81.0					3																	88205613		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205613T>C	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.818T>C	3.37:g.88205613T>C	ENSP00000322469:p.Leu273Pro						p.L273P	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	4	1129	+		Lung NSC(201;0.17)	273					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.818T>C	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	T	18.39	3.614472	0.66672	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.94	5.94	0.96194	.	0.070602	0.56097	D	0.000023	T	0.78591	0.4307	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80841	-0.1202	9	0.87932	D	0	-7.9815	15.5751	0.76373	0.0:0.0:0.0:1.0	.	273	Q5JPI3	CC038_HUMAN	P	273	.	ENSP00000322469:L273P	L	+	2	0	C3orf38	88288303	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.542000	0.82095	2.276000	0.75962	0.455000	0.32223	CTG		PASS	0.378	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		3	64	3	64	---	---	---	---
H1FOO	132243	broad.mit.edu	37	3	129270138	129270138	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:129270138C>G	ENST00000324382.2	+	5	1001	c.996C>G	c.(994-996)atC>atG	p.I332M	H1FOO_ENST00000503977.1_Missense_Mutation_p.I193M	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	332					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)	p.I332M(1)		endometrium(1)|lung(4)|skin(1)	6						GGCTGCCCATCAAGGCCTCAT	0.587																																						uc003emu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(994-996)ATC>ATG		H1 histone family, member O, oocyte-specific							24.0	28.0	26.0					3																	129270138		2203	4300	6503	SO:0001583	missense	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129270138C>G	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.996C>G	3.37:g.129270138C>G	ENSP00000319799:p.Ile332Met					H1FOO_uc003emv.2_Missense_Mutation_p.I193M	p.I332M	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			5	1001	+			332					Q86WT7	Missense_Mutation	SNP	ENST00000324382.2	37	c.996C>G	CCDS3064.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805707	0.31961	.	.	ENSG00000178804	ENST00000324382;ENST00000503977	T;T	0.46451	0.89;0.87	5.11	3.08	0.35506	.	7.646200	0.00166	N	0.000001	T	0.34395	0.0896	L	0.44542	1.39	0.09310	N	1	P	0.42941	0.794	B	0.33521	0.165	T	0.35151	-0.9800	10	0.62326	D	0.03	-0.8742	5.229	0.15412	0.1958:0.692:0.0:0.1122	.	332	Q8IZA3	H1FOO_HUMAN	M	332;193	ENSP00000319799:I332M;ENSP00000422964:I193M	ENSP00000319799:I332M	I	+	3	3	H1FOO	130752828	0.172000	0.23043	0.029000	0.17559	0.013000	0.08279	0.458000	0.21892	1.198000	0.43158	-0.367000	0.07326	ATC		PASS	0.587	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		14	57	14	57	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130290178	130290178	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:130290178G>T	ENST00000358511.6	+	6	2949	c.2918G>T	c.(2917-2919)gGa>gTa	p.G973V	COL6A6_ENST00000453409.2_Missense_Mutation_p.G973V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	973	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G973V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGACTTTTGGAGGTCTGAAG	0.458																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2917-2919)GGA>GTA		collagen type VI alpha 6 precursor							38.0	36.0	37.0					3																	130290178		1931	4138	6069	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290178G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2918G>T	3.37:g.130290178G>T	ENSP00000351310:p.Gly973Val						p.G973V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2949	+			973			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2918G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192268	0.58017	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78481	-1.18;-1.18	4.99	4.1	0.47936	von Willebrand factor, type A (3);	0.248184	0.29152	N	0.012987	T	0.77665	0.4164	L	0.46819	1.47	0.51012	D	0.999909	D	0.60575	0.988	P	0.57057	0.812	T	0.73808	-0.3866	10	0.30078	T	0.28	.	8.3811	0.32472	0.1862:0.0:0.8138:0.0	.	973	A6NMZ7	CO6A6_HUMAN	V	973	ENSP00000351310:G973V;ENSP00000399236:G973V	ENSP00000351310:G973V	G	+	2	0	COL6A6	131772868	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.289000	0.59013	2.486000	0.83907	0.561000	0.74099	GGA		PASS	0.458	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		41	45	41	45	---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145809643	145809643	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:145809643G>C	ENST00000360060.3	-	8	1000	c.823C>G	c.(823-825)Cag>Gag	p.Q275E	PLOD2_ENST00000282903.5_Missense_Mutation_p.Q275E|PLOD2_ENST00000494950.1_Missense_Mutation_p.Q220E|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	275					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.Q275E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CCATTATCCTGTGTCCATGAA	0.373																																						uc003evs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(823-825)CAG>GAG		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						104.0	94.0	97.0					3																	145809643		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145809643G>C	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.823C>G	3.37:g.145809643G>C	ENSP00000353170:p.Gln275Glu					PLOD2_uc011bnm.1_Missense_Mutation_p.Q220E|PLOD2_uc003evr.1_Missense_Mutation_p.Q275E	p.Q275E	NM_000935	NP_000926	O00469	PLOD2_HUMAN			8	1329	-			275					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.823C>G	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361533	0.41801	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	T;T;T	0.62788	0.0;-0.0;0.01	6.06	5.14	0.70334	.	0.368466	0.33364	N	0.004985	T	0.42921	0.1224	N	0.08118	0	0.27338	N	0.95658	B;B;B	0.22604	0.072;0.07;0.057	B;B;B	0.25614	0.023;0.028;0.062	T	0.22765	-1.0207	10	0.25106	T	0.35	-16.2377	15.1287	0.72503	0.0:0.0:0.8579:0.1421	.	220;275;275	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	E	275;275;220	ENSP00000282903:Q275E;ENSP00000353170:Q275E;ENSP00000420094:Q220E	ENSP00000282903:Q275E	Q	-	1	0	PLOD2	147292333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.814000	0.55643	2.880000	0.98712	0.650000	0.86243	CAG		PASS	0.373	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		7	156	7	156	---	---	---	---
ARL14	80117	broad.mit.edu	37	3	160395683	160395683	+	Silent	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:160395683A>G	ENST00000320767.2	+	1	736	c.549A>G	c.(547-549)ggA>ggG	p.G183G		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	183					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)	p.G183G(1)		lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			AATCAAGAGGAGACACTTTGG	0.483																																						uc003fdq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(547-549)GGA>GGG		ADP-ribosylation factor-like 14							45.0	47.0	46.0					3																	160395683		2203	4300	6503	SO:0001819	synonymous_variant	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395683A>G	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.549A>G	3.37:g.160395683A>G							p.G183G	NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	736	+			183					Q9H655	Silent	SNP	ENST00000320767.2	37	c.549A>G	CCDS3192.1																																																																																				PASS	0.483	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		7	381	7	381	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167254726	167254726	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:167254726T>A	ENST00000308378.3	-	7	1135	c.830A>T	c.(829-831)aAa>aTa	p.K277I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.K341I|WDR49_ENST00000476376.1_Missense_Mutation_p.K102I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	277								p.K277I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATACCTCCTTTCCATTCTTC	0.388																																						uc003fev.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(829-831)AAA>ATA		WD repeat domain 49							89.0	82.0	84.0					3																	167254726		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167254726T>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.830A>T	3.37:g.167254726T>A	ENSP00000311343:p.Lys277Ile					WDR49_uc003feu.1_Missense_Mutation_p.K102I|WDR49_uc011bpd.1_Missense_Mutation_p.K341I|WDR49_uc003few.1_Intron	p.K277I	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			7	1136	-			277					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.830A>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.35|15.35	2.807467|2.807467	0.50421|0.50421	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.46819|.	1.78;1.63;0.86|.	5.69|5.69	4.43|4.43	0.53597|0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.211349|0.211349	0.49305|0.49305	D|D	0.000143|0.000143	T|.	0.45438|.	0.1342|.	L|L	0.47716|0.47716	1.5|1.5	0.30055|0.30055	N|N	0.811446|0.811446	D;D|.	0.69078|.	0.991;0.997|.	D;D|.	0.69824|.	0.93;0.966|.	T|.	0.45498|.	-0.9257|.	10|.	0.52906|.	T|.	0.07|.	.|.	8.9988|8.9988	0.36069|0.36069	0.0:0.1099:0.0:0.8901|0.0:0.1099:0.0:0.8901	.|.	341;277|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	I|X	277;102;341|353	ENSP00000311343:K277I;ENSP00000420508:K102I;ENSP00000410863:K341I|.	ENSP00000311343:K277I|.	K|K	-|-	2|1	0|0	WDR49|WDR49	168737420|168737420	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.217000|0.217000	0.24651|0.24651	1.642000|1.642000	0.37207|0.37207	0.864000|0.864000	0.35578|0.35578	0.533000|0.533000	0.62120|0.62120	AAA|AAG		PASS	0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		7	219	7	219	---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172491779	172491779	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:172491779C>A	ENST00000392692.3	+	14	1691	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	ECT2_ENST00000540509.1_Silent_p.I505I|ECT2_ENST00000417960.1_Silent_p.I473I|ECT2_ENST00000441497.2_Silent_p.I474I|SNORA72_ENST00000363485.1_RNA|ECT2_ENST00000427830.1_Silent_p.I474I|ECT2_ENST00000232458.5_Silent_p.I474I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	505	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.I474I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGGTAGCATCCCAGATATCT	0.323																																						uc003fii.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(1420-1422)ATC>ATA		epithelial cell transforming sequence 2 oncogene							122.0	117.0	119.0					3																	172491779		2203	4300	6503	SO:0001819	synonymous_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172491779C>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1515C>A	3.37:g.172491779C>A						ECT2_uc010hwv.1_Silent_p.I505I|ECT2_uc003fih.2_Silent_p.I473I|ECT2_uc003fij.1_Silent_p.I474I|ECT2_uc003fik.1_Silent_p.I474I|ECT2_uc003fil.1_Silent_p.I505I	p.I474I	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		13	1560	+	Ovarian(172;0.00197)|Breast(254;0.158)		474			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	ENST00000392692.3	37	c.1422C>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181664	0.21787	.	.	ENSG00000114346	ENST00000444250	.	.	.	5.61	1.16	0.20824	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46048	-0.9219	4	.	.	.	-13.0873	7.7017	0.28627	0.0:0.4481:0.0:0.5519	.	.	.	.	Y	148	.	.	S	+	2	0	ECT2	173974473	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.139000	0.31504	0.294000	0.22547	0.585000	0.79938	TCC		PASS	0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		9	365	9	365	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192517235	192517235	+	Missense_Mutation	SNP	C	C	G	rs377569367		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:192517235C>G	ENST00000392452.2	-	2	736	c.416G>C	c.(415-417)cGc>cCc	p.R139P		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	139							protein complex binding (GO:0032403)	p.R137P(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GGCTGAGTGGCGCATGTCGAG	0.507																																						uc011bsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)CGC>CCC		hypothetical protein LOC151963							91.0	81.0	84.0					3																	192517235		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517235C>G	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.416G>C	3.37:g.192517235C>G	ENSP00000376246:p.Arg139Pro						p.R139P	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	737	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		139					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.416G>C	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995561	0.74703	.	.	ENSG00000180611	ENST00000392452	T	0.08984	3.03	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.00275	-1.1856	10	0.30854	T	0.27	-20.9645	18.6978	0.91607	0.0:1.0:0.0:0.0	.	139	Q8IYB1	M21D2_HUMAN	P	139	ENSP00000376246:R139P	ENSP00000376246:R139P	R	-	2	0	MB21D2	193999929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.629000	0.83207	2.652000	0.90054	0.655000	0.94253	CGC		PASS	0.507	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		9	446	9	446	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195492215	195492215	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr3:195492215C>T	ENST00000346145.4	-	8	1055	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	MUC4_ENST00000349607.4_Missense_Mutation_p.G288D|MUC4_ENST00000475231.1_Missense_Mutation_p.G4523D|MUC4_ENST00000463781.3_Missense_Mutation_p.G4575D	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1332					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G4575D(1)|p.G4447D(1)|p.G339D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGTTCCAGCCCCAGCTGGG	0.627																																						uc011bto.1																			3	Substitution - Missense(3)		lung(3)		0						c.(13339-13341)GGC>GAC		mucin 4 isoform a							40.0	38.0	39.0					3																	195492215		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195492215C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1016G>A	3.37:g.195492215C>T	ENSP00000304207:p.Gly339Asp					MUC4_uc003fuz.2_Missense_Mutation_p.G173D|MUC4_uc003fva.2_Missense_Mutation_p.G55D|MUC4_uc003fvb.2_Missense_Mutation_p.G91D|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.G91D|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.G55D|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.G139D|MUC4_uc011bti.1_Missense_Mutation_p.G139D|MUC4_uc011btj.1_Missense_Mutation_p.G316D|MUC4_uc011btk.1_Missense_Mutation_p.G55D|MUC4_uc011btl.1_Missense_Mutation_p.G84D|MUC4_uc011btm.1_Missense_Mutation_p.G264D|MUC4_uc011btn.1_Missense_Mutation_p.G55D|MUC4_uc003fvo.2_Missense_Mutation_p.G339D|MUC4_uc003fvp.2_Missense_Mutation_p.G288D|MUC4_uc010hzu.1_Missense_Mutation_p.G1187D	p.G4447D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	10	13800	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1332			AMOP.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.13340G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.310715	0.23821	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.37915	1.17;1.53;1.5;1.5	4.15	-2.47	0.06442	AMOP (2);	0.693619	0.12330	U	0.478483	T	0.32704	0.0838	M	0.63428	1.95	0.09310	N	1	B;B;B;B;B;B;B	0.29909	0.261;0.122;0.029;0.029;0.011;0.011;0.124	B;B;B;B;B;B;B	0.37144	0.242;0.1;0.014;0.014;0.018;0.018;0.082	T	0.38090	-0.9677	10	0.36615	T	0.2	.	5.4024	0.16303	0.0:0.2813:0.2595:0.4592	.	4447;1332;288;339;4575;4523;1280	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	D	288;339;4575;4523;1301	ENSP00000338109:G288D;ENSP00000304207:G339D;ENSP00000417498:G4575D;ENSP00000420243:G4523D	ENSP00000304207:G339D	G	-	2	0	MUC4	196977886	0.488000	0.25996	0.232000	0.24009	0.390000	0.30446	0.036000	0.13819	-0.338000	0.08413	0.461000	0.40582	GGC		PASS	0.627	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		6	72	6	72	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42580397	42580397	+	Silent	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:42580397G>T	ENST00000381668.5	-	12	1239	c.1008C>A	c.(1006-1008)ggC>ggA	p.G336G	ATP8A1_ENST00000264449.10_Silent_p.G336G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	336					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G336G(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AATTACTAGCGCCACCATCTG	0.363																																						uc003gwr.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1006-1008)GGC>GGA		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						132.0	131.0	132.0					4																	42580397		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42580397G>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1008C>A	4.37:g.42580397G>T						ATP8A1_uc003gws.2_Silent_p.G336G|ATP8A1_uc011byz.1_Silent_p.G336G	p.G336G	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			12	1240	-			336			Extracellular (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.1008C>A	CCDS3466.1																																																																																				PASS	0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		39	173	39	173	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49005780	49005780	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:49005780C>A	ENST00000226432.4	+	7	1014	c.831C>A	c.(829-831)taC>taA	p.Y277*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.Y250*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	277					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.Y277*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGCTCCTTTACCTGCACACAT	0.488																																						uc003gyv.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(829-831)TAC>TAA		cell wall biogenesis 43 C-terminal homolog							83.0	79.0	81.0					4																	49005780		2203	4300	6503	SO:0001587	stop_gained	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49005780C>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.831C>A	4.37:g.49005780C>A	ENSP00000226432:p.Tyr277*					CWH43_uc011bzl.1_Nonsense_Mutation_p.Y250*	p.Y277*	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			7	1013	+			277			Helical; (Potential).		B2RPD7	Nonsense_Mutation	SNP	ENST00000226432.4	37	c.831C>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013394	0.75161	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	3.91	3.06	0.35304	.	0.420625	0.20118	N	0.098874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5974	0.39582	0.0:0.8219:0.0:0.1781	.	.	.	.	X	277;250	.	.	Y	+	3	2	CWH43	48700537	0.919000	0.31177	0.983000	0.44433	0.007000	0.05969	0.440000	0.21592	1.207000	0.43291	0.591000	0.81541	TAC		PASS	0.488	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		34	127	34	127	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57190272	57190272	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:57190272C>A	ENST00000504228.1	+	8	3486	c.3381C>A	c.(3379-3381)gtC>gtA	p.V1127V	KIAA1211_ENST00000541073.1_Silent_p.V1120V|KIAA1211_ENST00000264229.6_Silent_p.V1127V			Q6ZU35	K1211_HUMAN	KIAA1211	1127								p.V1127V(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCACGCAGGTCAGTGTCAGCG	0.587																																						uc003hbk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(3379-3381)GTC>GTA		hypothetical protein LOC57482							55.0	61.0	59.0					4																	57190272		2190	4290	6480	SO:0001819	synonymous_variant	57482							g.chr4:57190272C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3381C>A	4.37:g.57190272C>A						KIAA1211_uc010iha.2_Silent_p.V1120V	p.V1127V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			10	3772	+	Glioma(25;0.08)|all_neural(26;0.101)		1127					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.3381C>A	CCDS43230.1																																																																																				PASS	0.587	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		38	62	38	62	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508698	71508698	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:71508698G>A	ENST00000396073.3	+	9	1836	c.1555G>A	c.(1555-1557)Ggg>Agg	p.G519R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	519					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.G519R(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTTGCCCAAAGGGATTGTTTT	0.398																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1555-1557)GGG>AGG		enamelin precursor							65.0	65.0	65.0					4																	71508698		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508698G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1555G>A	4.37:g.71508698G>A	ENSP00000379383:p.Gly519Arg						p.G519R	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1836	+			519					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1555G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321629	0.60634	.	.	ENSG00000132464	ENST00000396073	T	0.60672	0.17	5.93	5.09	0.68999	.	0.101491	0.44483	N	0.000448	T	0.76941	0.4058	M	0.91354	3.2	0.39313	D	0.965105	D	0.54964	0.969	P	0.60415	0.874	T	0.82491	-0.0431	10	0.72032	D	0.01	-6.9794	10.8668	0.46860	0.0853:0.0:0.9147:0.0	.	519	Q9NRM1	ENAM_HUMAN	R	519	ENSP00000379383:G519R	ENSP00000379383:G519R	G	+	1	0	ENAM	71727562	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.733000	0.47360	1.533000	0.49186	0.655000	0.94253	GGG		PASS	0.398	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		59	157	59	157	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90170453	90170453	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:90170453A>T	ENST00000609438.1	-	2	1327	c.809T>A	c.(808-810)cTc>cAc	p.L270H	GPRIN3_ENST00000333209.4_Missense_Mutation_p.L270H	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	270								p.L270H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCGCTAGTGAGGGGGGTTGG	0.562																																						uc003hsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(808-810)CTC>CAC		G protein-regulated inducer of neurite outgrowth							68.0	73.0	72.0					4																	90170453		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170453A>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.809T>A	4.37:g.90170453A>T	ENSP00000476603:p.Leu270His						p.L270H	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1328	-		Hepatocellular(203;0.114)	270					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.809T>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050647	0.55218	.	.	ENSG00000185477	ENST00000333209	T	0.12361	2.69	5.37	2.96	0.34315	.	0.000000	0.30949	N	0.008542	T	0.14700	0.0355	L	0.29908	0.895	0.09310	N	1	D	0.59357	0.985	P	0.55161	0.77	T	0.08659	-1.0711	10	0.72032	D	0.01	-10.6398	3.4135	0.07366	0.5769:0.0:0.2621:0.161	.	270	Q6ZVF9	GRIN3_HUMAN	H	270	ENSP00000328672:L270H	ENSP00000328672:L270H	L	-	2	0	GPRIN3	90389476	0.026000	0.19158	0.001000	0.08648	0.000000	0.00434	0.452000	0.21795	0.495000	0.27882	-0.263000	0.10527	CTC		PASS	0.562	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		61	165	61	165	---	---	---	---
CFI	3426	broad.mit.edu	37	4	110685823	110685823	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:110685823G>T	ENST00000394634.2	-	3	559	c.352C>A	c.(352-354)Cat>Aat	p.H118N	CFI_ENST00000510800.1_Missense_Mutation_p.H118N|CFI_ENST00000394635.3_Missense_Mutation_p.H118N|CFI_ENST00000512148.1_Missense_Mutation_p.H118N	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	118	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.H118N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GTATTTCCATGCTTCAAGGAA	0.318																																						uc003hzr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)CAT>AAT		complement factor I preproprotein							131.0	111.0	118.0					4																	110685823		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110685823G>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.352C>A	4.37:g.110685823G>T	ENSP00000378130:p.His118Asn					CFI_uc003hzq.2_5'Flank|CFI_uc011cft.1_Missense_Mutation_p.H118N|CFI_uc003hzs.3_Missense_Mutation_p.H118N	p.H118N	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	3	560	-		Hepatocellular(203;0.217)	118			SRCR.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.352C>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224670	0.06022	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104;ENST00000512148;ENST00000536228;ENST00000510800	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.71	-1.98	0.07480	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.062750	0.07197	N	0.856701	T	0.06005	0.0156	N	0.00332	-1.63	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.003	T	0.33394	-0.9870	10	0.27785	T	0.31	-7.885	5.3929	0.16253	0.3965:0.0:0.372:0.2315	.	118;118;118	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	N	118;118;118;118;100;118	ENSP00000378131:H118N;ENSP00000378130:H118N;ENSP00000427438:H118N;ENSP00000422009:H118N	ENSP00000378130:H118N	H	-	1	0	CFI	110905272	0.000000	0.05858	0.002000	0.10522	0.250000	0.25880	0.068000	0.14531	-0.459000	0.07013	-1.105000	0.02106	CAT		PASS	0.318	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		21	68	21	68	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129964586	129964586	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:129964586G>C	ENST00000281142.5	-	4	701	c.198C>G	c.(196-198)caC>caG	p.H66Q	SCLT1_ENST00000503401.1_Missense_Mutation_p.H43Q|SCLT1_ENST00000506368.1_Missense_Mutation_p.H66Q|SCLT1_ENST00000503215.1_Missense_Mutation_p.H43Q|SCLT1_ENST00000511426.1_Missense_Mutation_p.H66Q|SCLT1_ENST00000434680.1_Missense_Mutation_p.H66Q|SCLT1_ENST00000439369.2_Missense_Mutation_p.H66Q	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	66					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.H66Q(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTTCTCCTAGGTGTTTATCAT	0.269																																						uc003igp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(196-198)CAC>CAG		sodium channel associated protein 1							41.0	42.0	41.0					4																	129964586		2203	4288	6491	SO:0001583	missense	132320					centrosome		g.chr4:129964586G>C	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.198C>G	4.37:g.129964586G>C	ENSP00000281142:p.His66Gln					SCLT1_uc003igq.2_Missense_Mutation_p.H66Q|SCLT1_uc010iob.1_Missense_Mutation_p.H66Q|SCLT1_uc003igr.2_Missense_Mutation_p.H66Q|SCLT1_uc003igs.2_RNA|SCLT1_uc003igt.3_Missense_Mutation_p.H66Q	p.H66Q	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			4	704	-			66					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.198C>G	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	3.524	-0.097083	0.07010	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215;ENST00000506368;ENST00000511426;ENST00000503401	T;T;T	0.09723	2.95;2.95;2.95	4.39	0.429	0.16506	.	0.401247	0.27659	N	0.018383	T	0.05777	0.0151	L	0.29908	0.895	0.21020	N	0.999808	B;B;B;B;B	0.25955	0.0;0.043;0.123;0.138;0.002	B;B;B;B;B	0.22152	0.003;0.025;0.038;0.037;0.002	T	0.35051	-0.9804	9	.	.	.	-2.9491	3.2962	0.06966	0.5382:0.0:0.101:0.3608	.	66;66;66;66;66	Q96NL6-3;Q96NL6-4;D6RBA6;Q96NL6-2;Q96NL6	.;.;.;.;SCLT1_HUMAN	Q	66;66;66;43;66;66;43	ENSP00000281142:H66Q;ENSP00000401539:H66Q;ENSP00000424029:H43Q	.	H	-	3	2	SCLT1	130184036	1.000000	0.71417	0.428000	0.26697	0.127000	0.20565	0.723000	0.25939	-0.051000	0.13334	-0.339000	0.08088	CAC		PASS	0.269	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		9	33	9	33	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155507372	155507372	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:155507372C>T	ENST00000302053.3	-	5	1287	c.1209G>A	c.(1207-1209)gcG>gcA	p.A403A	FGA_ENST00000403106.3_Silent_p.A403A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	403					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.A403A(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTTAGGCCTCGCGTTCCCAG	0.512																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			2	Substitution - coding silent(2)		lung(1)|prostate(1)	ovary(2)|breast(1)	3						c.(1207-1209)GCG>GCA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						109.0	114.0	112.0					4																	155507372		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507372C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1209G>A	4.37:g.155507372C>T						FGA_uc003ioe.1_Silent_p.A403A|FGA_uc003iof.1_Intron	p.A403A	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1267	-	all_hematologic(180;0.215)	Renal(120;0.0458)	403			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.1209G>A	CCDS3787.1																																																																																				PASS	0.512	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		71	167	71	167	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177650829	177650829	+	Silent	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr4:177650829G>C	ENST00000280193.2	-	2	634	c.219C>G	c.(217-219)ctC>ctG	p.L73L	VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	73					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.L73L(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ATTCTGGGTAGAGTACAGTCA	0.438																																						uc003ius.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)	5						c.(217-219)CTC>CTG		vascular endothelial growth factor C							115.0	104.0	107.0					4																	177650829		1924	4137	6061	SO:0001819	synonymous_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650829G>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.219C>G	4.37:g.177650829G>C							p.L73L	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	2	649	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	73					B2R9Q8	Silent	SNP	ENST00000280193.2	37	c.219C>G	CCDS43285.1																																																																																				PASS	0.438	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		26	87	26	87	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1073810	1073810	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:1073810C>A	ENST00000264930.5	-	17	2222	c.2179G>T	c.(2179-2181)Gtg>Ttg	p.V727L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	727					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V727L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACCGAGCCCACGATGGTCAGG	0.697																																						uc003jbu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(2179-2181)GTG>TTG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						58.0	60.0	59.0					5																	1073810		2201	4293	6494	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1073810C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2179G>T	5.37:g.1073810C>A	ENSP00000264930:p.Val727Leu						p.V727L	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		17	2245	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		727					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2179G>T	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.25|19.25	3.791267|3.791267	0.70452|0.70452	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.93659	.|-3.26	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91720|0.91720	0.7382|0.7382	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	D|D	1|1	.|P	.|0.46327	.|0.876	.|B	.|0.39876	.|0.312	D|D	0.92812|0.92812	0.6265|0.6265	5|10	.|0.62326	.|D	.|0.03	.|.	15.087|15.087	0.72162|0.72162	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|727	.|Q9Y666	.|S12A7_HUMAN	L|L	84|727	.|ENSP00000264930:V727L	.|ENSP00000264930:V727L	R|V	-|-	2|1	0|0	SLC12A7|SLC12A7	1126810|1126810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	5.116000|5.116000	0.64661|0.64661	1.941000|1.941000	0.56285|0.56285	0.467000|0.467000	0.42956|0.42956	CGT|GTG		PASS	0.697	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		31	141	31	141	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6611197	6611197	+	Splice_Site	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:6611197A>T	ENST00000264670.6	-	11	1408	c.1097T>A	c.(1096-1098)gTa>gAa	p.V366E	NSUN2_ENST00000539938.1_Splice_Site_p.V130E|NSUN2_ENST00000506139.1_Splice_Site_p.V331E	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	366					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.V366E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TTTCGTCATTACCTGCAGAAC	0.488																																						uc003jdu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1096-1098)GTA>GAA		NOL1/NOP2/Sun domain family, member 2							174.0	140.0	151.0					5																	6611197		2203	4300	6503	SO:0001630	splice_region_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6611197A>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1096-1T>A	5.37:g.6611197A>T						NSUN2_uc003jdt.2_Missense_Mutation_p.V130E|NSUN2_uc011cmk.1_Missense_Mutation_p.V331E|NSUN2_uc003jdv.2_Missense_Mutation_p.V130E	p.V366E	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			11	1162	-			366					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1097T>A	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321281	0.81580	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.65916	0.54;-0.18;0.55	5.63	5.63	0.86233	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.055789	0.64402	D	0.000001	T	0.78830	0.4345	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.98	D;D	0.67231	0.95;0.912	T	0.81562	-0.0876	10	0.66056	D	0.02	-41.0993	15.8927	0.79312	1.0:0.0:0.0:0.0	.	331;366	B4DQW2;Q08J23	.;NSUN2_HUMAN	E	366;130;331	ENSP00000264670:V366E;ENSP00000444338:V130E;ENSP00000420957:V331E	ENSP00000264670:V366E	V	-	2	0	NSUN2	6664197	1.000000	0.71417	0.932000	0.37286	0.606000	0.37113	8.381000	0.90152	2.151000	0.67156	0.454000	0.30748	GTA		PASS	0.488	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	Missense_Mutation	132	227	132	227	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11199629	11199629	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:11199629C>T	ENST00000304623.8	-	11	2095	c.1906G>A	c.(1906-1908)Ggt>Agt	p.G636S	CTNND2_ENST00000511377.1_Missense_Mutation_p.G545S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G203S|CTNND2_ENST00000503622.1_Missense_Mutation_p.G299S|CTNND2_ENST00000359640.2_Missense_Mutation_p.G636S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	636					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G636S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGATGCCACCACAGTTTTTC	0.473																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1906-1908)GGT>AGT		catenin (cadherin-associated protein), delta 2							172.0	170.0	171.0					5																	11199629		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199629C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1906G>A	5.37:g.11199629C>T	ENSP00000307134:p.Gly636Ser					CTNND2_uc010itt.2_Missense_Mutation_p.G545S|CTNND2_uc011cmy.1_Missense_Mutation_p.G299S|CTNND2_uc011cmz.1_Missense_Mutation_p.G203S|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G203S	p.G636S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			11	2051	-			636			ARM 4.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1906G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616611	0.96649	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93749	0.7057	10	0.72032	D	0.01	-8.4088	20.0474	0.97616	0.0:1.0:0.0:0.0	.	299;203;636	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	S	636;636;545;203;299	ENSP00000307134:G636S;ENSP00000352661:G636S;ENSP00000426510:G545S;ENSP00000391155:G203S;ENSP00000426887:G299S	ENSP00000307134:G636S	G	-	1	0	CTNND2	11252629	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.484000	0.81180	2.722000	0.93159	0.655000	0.94253	GGT		PASS	0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		47	286	47	286	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065617	35065617	+	Silent	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:35065617G>A	ENST00000382002.5	-	10	1869	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	PRLR_ENST00000511486.1_Silent_p.S380S|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Silent_p.S380S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	481					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.S481S(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CAGAATGGAAGCTTTCTACCT	0.493																																						uc003jjm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1441-1443)AGC>AGT		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						94.0	103.0	100.0					5																	35065617		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065617G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1443C>T	5.37:g.35065617G>A						PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.S380S	p.S481S	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1973	-	all_lung(31;3.83e-05)		481			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1443C>T	CCDS3909.1																																																																																				PASS	0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			152	177	152	177	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39377138	39377138	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:39377138C>A	ENST00000320816.6	-	12	2218	c.1751G>T	c.(1750-1752)tGg>tTg	p.W584L	DAB2_ENST00000509337.1_Missense_Mutation_p.W563L|DAB2_ENST00000545653.1_Missense_Mutation_p.W563L|DAB2_ENST00000339788.6_Missense_Mutation_p.W366L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	584					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.W584L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGTTGTTGACCAAGCATTGGG	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlx.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(1750-1752)TGG>TTG		disabled homolog 2							78.0	89.0	86.0					5																	39377138		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39377138C>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1751G>T	5.37:g.39377138C>A	ENSP00000313391:p.Trp584Leu		OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_uc003jlw.2_Missense_Mutation_p.W563L	p.W584L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2282	-	all_lung(31;0.000197)		584					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1751G>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947074	0.73672	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.42131	1.03;1.11;0.98;0.98	5.57	5.57	0.84162	.	0.118143	0.64402	D	0.000007	T	0.65863	0.2732	M	0.70275	2.135	0.51767	D	0.999938	P;D	0.89917	0.937;1.0	B;D	0.74348	0.427;0.983	T	0.67154	-0.5742	10	0.62326	D	0.03	-3.6813	19.5508	0.95319	0.0:1.0:0.0:0.0	.	584;563	P98082;P98082-3	DAB2_HUMAN;.	L	584;366;563;563	ENSP00000313391:W584L;ENSP00000345508:W366L;ENSP00000439919:W563L;ENSP00000426245:W563L	ENSP00000313391:W584L	W	-	2	0	DAB2	39412895	1.000000	0.71417	0.936000	0.37596	0.511000	0.34104	4.098000	0.57748	2.617000	0.88574	0.655000	0.94253	TGG		PASS	0.552	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		74	172	74	172	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39382758	39382758	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:39382758G>C	ENST00000320816.6	-	10	1770	c.1303C>G	c.(1303-1305)Caa>Gaa	p.Q435E	DAB2_ENST00000509337.1_Missense_Mutation_p.Q414E|DAB2_ENST00000545653.1_Missense_Mutation_p.Q414E|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	435	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.Q435E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGGTACTTTGTGGAGGTGGG	0.498																																						uc003jlx.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(1303-1305)CAA>GAA		disabled homolog 2							158.0	159.0	159.0					5																	39382758		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39382758G>C	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1303C>G	5.37:g.39382758G>C	ENSP00000313391:p.Gln435Glu					DAB2_uc003jlw.2_Missense_Mutation_p.Q414E	p.Q435E	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1834	-	all_lung(31;0.000197)		435					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1303C>G	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007577	0.75046	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.47869	0.91;0.83;0.83	5.63	5.63	0.86233	.	0.399730	0.30302	N	0.009925	T	0.61565	0.2357	M	0.64997	1.995	0.54753	D	0.999982	D;P	0.62365	0.991;0.82	P;B	0.57204	0.815;0.426	T	0.52480	-0.8570	10	0.20519	T	0.43	-10.2176	20.0572	0.97657	0.0:0.0:1.0:0.0	.	435;414	P98082;P98082-3	DAB2_HUMAN;.	E	435;414;414	ENSP00000313391:Q435E;ENSP00000439919:Q414E;ENSP00000426245:Q414E	ENSP00000313391:Q435E	Q	-	1	0	DAB2	39418515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.826000	0.97356	0.655000	0.94253	CAA		PASS	0.498	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		35	264	35	264	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45462055	45462055	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:45462055T>A	ENST00000303230.4	-	3	961	c.904A>T	c.(904-906)Atc>Ttc	p.I302F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	302					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.I302F(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCATGCCGATGAGATTAAAA	0.398																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(904-906)ATC>TTC		hyperpolarization activated cyclic							73.0	73.0	73.0					5																	45462055		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462055T>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.904A>T	5.37:g.45462055T>A	ENSP00000307342:p.Ile302Phe						p.I302F	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	929	-			302			Helical; Name=Segment S5; (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.904A>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412086	0.83340	.	.	ENSG00000164588	ENST00000303230	D	0.98512	-4.97	5.73	4.54	0.55810	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.97182	0.9079	L	0.42529	1.33	0.80722	D	1	B	0.32526	0.374	B	0.44224	0.444	D	0.96199	0.9144	10	0.87932	D	0	.	12.1075	0.53820	0.1287:0.0:0.0:0.8713	.	302	O60741	HCN1_HUMAN	F	302	ENSP00000307342:I302F	ENSP00000307342:I302F	I	-	1	0	HCN1	45497812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.031000	0.88826	0.966000	0.38159	0.528000	0.53228	ATC		PASS	0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		17	92	17	92	---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250178	140250178	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:140250178G>A	ENST00000398640.2	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R497Q(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGTTGGGCGAC	0.672																																						uc003lia.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1489-1491)CGG>CAG		protocadherin alpha 11 isoform 1 precursor							68.0	74.0	72.0					5																	140250178		2203	4298	6501	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250178G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1490G>A	5.37:g.140250178G>A	ENSP00000381636:p.Arg497Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R497Q	p.R497Q	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2348	+			497			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1490G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306356	0.40795	.	.	ENSG00000249158	ENST00000398640	T	0.51325	0.71	5.33	3.39	0.38822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14830	0.0358	N	0.01618	-0.8	0.09310	N	1	P;P	0.44260	0.714;0.83	B;B	0.33254	0.091;0.16	T	0.00706	-1.1601	9	0.35671	T	0.21	.	3.9458	0.09347	0.0898:0.1588:0.5874:0.164	.	497;497	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Q	497	ENSP00000381636:R497Q	ENSP00000381636:R497Q	R	+	2	0	PCDHA11	140230362	0.000000	0.05858	0.995000	0.50966	0.918000	0.54935	0.387000	0.20718	2.501000	0.84356	0.556000	0.70494	CGG		PASS	0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		21	95	21	95	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147029988	147029988	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:147029988C>A	ENST00000265272.5	-	4	1217	c.750G>T	c.(748-750)ctG>ctT	p.L250L	JAKMIP2_ENST00000333010.6_Silent_p.L208L|JAKMIP2_ENST00000507386.1_Silent_p.L250L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	250						Golgi apparatus (GO:0005794)		p.L250L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTGACCAGAAAGAGTT	0.493																																						uc003loq.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(748-750)CTG>CTT		janus kinase and microtubule interacting protein							142.0	129.0	133.0					5																	147029988		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147029988C>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.750G>T	5.37:g.147029988C>A						JAKMIP2_uc011dbx.1_Silent_p.L208L|JAKMIP2_uc003lor.1_Silent_p.L250L|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.L250L	p.L250L	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1132	-			250					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.750G>T	CCDS4285.1																																																																																				PASS	0.493	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		14	112	14	112	---	---	---	---
DOK3	79930	broad.mit.edu	37	5	176931494	176931494	+	Silent	SNP	C	C	A	rs539225826		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:176931494C>A	ENST00000357198.4	-	6	985	c.981G>T	c.(979-981)cgG>cgT	p.R327R	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000501403.2_Silent_p.R271R	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	327	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R327R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAGAGGTGGCCCGTGGCAGGG	0.726																																						uc003mhk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(979-981)CGG>CGT		docking protein 3 isoform 1							11.0	13.0	12.0					5																	176931494		2189	4277	6466	SO:0001819	synonymous_variant	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931494C>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.981G>T	5.37:g.176931494C>A						DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Silent_p.R271R	p.R327R	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	986	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	327			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	c.981G>T	CCDS4426.1																																																																																				PASS	0.726	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		4	3	4	3	---	---	---	---
CNOT6	57472	broad.mit.edu	37	5	179996224	179996224	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:179996224C>G	ENST00000393356.1	+	12	1566	c.1142C>G	c.(1141-1143)tCa>tGa	p.S381*	CNOT6_ENST00000261951.4_Nonsense_Mutation_p.S381*			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	381	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.S381*(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		ATGTTCCTCTCAGAAGTGAAG	0.398																																						uc003mlx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1141-1143)TCA>TGA		CCR4-NOT transcription complex, subunit 6							130.0	126.0	128.0					5																	179996224		2203	4300	6503	SO:0001587	stop_gained	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179996224C>G	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1142C>G	5.37:g.179996224C>G	ENSP00000377024:p.Ser381*					CNOT6_uc010jld.2_Nonsense_Mutation_p.S381*|CNOT6_uc010jle.2_Nonsense_Mutation_p.S376*	p.S381*	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	10	1491	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	381					A7MD46|D3DWR0	Nonsense_Mutation	SNP	ENST00000393356.1	37	c.1142C>G	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	C	42	9.498867	0.99187	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9644	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	X	381	.	.	S	+	2	0	CNOT6	179928830	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	TCA		PASS	0.398	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		59	152	59	152	---	---	---	---
BPHL	670	broad.mit.edu	37	6	3152808	3152808	+	Nonstop_Mutation	SNP	G	G	C	rs367779139		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr6:3152808G>C	ENST00000380379.5	+	7	924	c.875G>C	c.(874-876)tGa>tCa	p.*292S	BPHL_ENST00000434640.1_Nonstop_Mutation_p.*275S|TUBB2A_ENST00000489942.1_5'Flank|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000380375.3_Nonstop_Mutation_p.*275S|BPHL_ENST00000464040.1_3'UTR	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	0					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.*275S(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTCCTACAATGAGAATGCACA	0.438																																						uc003mva.2																			1	Nonstop extension(1)		lung(1)		0						c.(874-876)TGA>TCA		biphenyl hydrolase-like precursor							139.0	126.0	130.0					6																	3152808		2203	4300	6503	SO:0001578	stop_lost	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3152808G>C	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.875G>C	6.37:g.3152808G>C	ENSP00000369739:p.*292Serext*21					BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Nonstop_Mutation_p.*275S	p.*292S	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN			7	924	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	292					Q00306|Q13855|Q3KP51	Nonstop_Mutation	SNP	ENST00000380379.5	37	c.875G>C	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194910	0.38806	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380379	.	.	.	5.67	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.42291	D	0.992138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7974	0.40744	0.2482:0.0:0.7518:0.0	.	.	.	.	S	275;275;292	.	.	X	+	2	2	BPHL	3097807	0.779000	0.28652	0.221000	0.23827	0.031000	0.12232	1.174000	0.31932	1.336000	0.45506	0.655000	0.94253	TGA		PASS	0.438	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			30	131	30	131	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75831144	75831144	+	Silent	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr6:75831144G>T	ENST00000322507.8	-	44	7269	c.6960C>A	c.(6958-6960)gcC>gcA	p.A2320A	COL12A1_ENST00000483888.2_Silent_p.A2320A|COL12A1_ENST00000416123.2_Silent_p.A2320A|COL12A1_ENST00000345356.6_Silent_p.A1156A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2320					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.A2320A(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATCTGCCTTGGCCCCTTTGC	0.368																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(6958-6960)GCC>GCA		collagen, type XII, alpha 1 long isoform							93.0	91.0	91.0					6																	75831144		1866	4099	5965	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75831144G>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6960C>A	6.37:g.75831144G>T						COL12A1_uc003pht.2_Silent_p.A1156A	p.A2320A	NM_004370	NP_004361	Q99715	COCA1_HUMAN			44	7126	-			2320					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.6960C>A	CCDS43482.1																																																																																				PASS	0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		17	209	17	209	---	---	---	---
PRSS35	167681	broad.mit.edu	37	6	84234198	84234198	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr6:84234198C>T	ENST00000369700.3	+	2	1215	c.1038C>T	c.(1036-1038)acC>acT	p.T346T	PRSS35_ENST00000536636.1_Silent_p.T346T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	346	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.T346T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CGGGCTCCACCGGTTCGGGGG	0.507																																						uc003pjz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1036-1038)ACC>ACT		protease, serine, 35 precursor							96.0	97.0	97.0					6																	84234198		2203	4300	6503	SO:0001819	synonymous_variant	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234198C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1038C>T	6.37:g.84234198C>T						PRSS35_uc010kbm.2_Silent_p.T346T	p.T346T	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	1201	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	346			Peptidase S1.		A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	c.1038C>T	CCDS4999.1																																																																																				PASS	0.507	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		37	113	37	113	---	---	---	---
ZUFSP	221302	broad.mit.edu	37	6	116966902	116966902	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr6:116966902C>G	ENST00000368576.3	-	9	1907	c.1664G>C	c.(1663-1665)gGt>gCt	p.G555A		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	555							metal ion binding (GO:0046872)	p.G555A(1)|p.E554fs*5(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGAAAGAGCACCCTCTACTGC	0.308																																						uc003pxf.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		NS(1)|lung(1)	skin(1)	1						c.(1663-1665)GGT>GCT		zinc finger with UFM1-specific peptidase domain							122.0	120.0	121.0					6																	116966902		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116966902C>G	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1664G>C	6.37:g.116966902C>G	ENSP00000357565:p.Gly555Ala					ZUFSP_uc010kef.1_Missense_Mutation_p.G359A	p.G555A	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	9	1910	-			555					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.1664G>C	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355553	0.82243	.	.	ENSG00000153975	ENST00000368576	T	0.50277	0.75	5.65	5.65	0.86999	.	0.047809	0.85682	D	0.000000	T	0.63768	0.2539	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.60786	-0.7194	10	0.39692	T	0.17	-1.6096	19.7289	0.96175	0.0:1.0:0.0:0.0	.	555	Q96AP4	ZUFSP_HUMAN	A	555	ENSP00000357565:G555A	ENSP00000357565:G555A	G	-	2	0	ZUFSP	117073595	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.281000	0.65609	2.649000	0.89929	0.655000	0.94253	GGT		PASS	0.308	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		26	161	26	161	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127797341	127797341	+	Silent	SNP	C	C	A	rs3734449	byFrequency	TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr6:127797341C>A	ENST00000525778.1	-	6	2575	c.1830G>T	c.(1828-1830)gtG>gtT	p.V610V	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.V610V|SOGA3_ENST00000368268.2_Silent_p.V610V|SOGA3_ENST00000556132.1_Silent_p.V610V|SOGA3_ENST00000465909.2_Silent_p.V610V			Q5TF21	SOGA3_HUMAN	SOGA family member 3	610					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.V610V(1)									CTCTGTTCTCCACCTCCAGTT	0.612																																						uc003qbd.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(1828-1830)GTG>GTT		hypothetical protein LOC387104 precursor							155.0	168.0	163.0					6																	127797341		2148	4259	6407	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127797341C>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1830G>T	6.37:g.127797341C>A						C6orf174_uc003qbc.2_5'Flank	p.V610V	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	2695	-			610			Potential.			Silent	SNP	ENST00000525778.1	37	c.1830G>T	CCDS43505.1																																																																																				PASS	0.612	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		35	182	35	182	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7476074	7476074	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:7476074C>T	ENST00000399429.3	-	23	1952	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	604					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G604G(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ATCCAGGTATCCCAGGTCCTC	0.393																																						uc003src.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(1810-1812)GGG>GGA		collagen, type XXVIII precursor							126.0	121.0	123.0					7																	7476074		1851	4102	5953	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7476074C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1812G>A	7.37:g.7476074C>T						COL28A1_uc011jxe.1_Silent_p.G287G|COL28A1_uc003srd.2_Silent_p.G159G|COL28A1_uc003sre.1_Silent_p.G25G	p.G604G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	23	1929	-		Ovarian(82;0.0789)	604					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.1812G>A	CCDS43553.1																																																																																				PASS	0.393	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		55	132	55	132	---	---	---	---
FERD3L	222894	broad.mit.edu	37	7	19184757	19184757	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:19184757C>T	ENST00000275461.3	-	1	287	c.229G>A	c.(229-231)Gag>Aag	p.E77K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	77	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77K(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tcttcctcctcctcttctccg	0.632																																						uc003suo.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(229-231)GAG>AAG		nephew of atonal 3							69.0	49.0	56.0					7																	19184757		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184757C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.229G>A	7.37:g.19184757C>T	ENSP00000275461:p.Glu77Lys					uc003sun.1_RNA	p.E77K	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	288	-			77			Poly-Glu.		Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.229G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485884	0.84854	.	.	ENSG00000146618	ENST00000275461	D	0.96651	-4.08	5.55	5.55	0.83447	.	0.663993	0.15107	N	0.280182	D	0.92599	0.7649	L	0.27053	0.805	0.37791	D	0.927365	P	0.42827	0.791	B	0.38378	0.272	D	0.91938	0.5560	10	0.20519	T	0.43	0.37	17.6923	0.88271	0.0:1.0:0.0:0.0	.	77	Q96RJ6	FER3L_HUMAN	K	77	ENSP00000275461:E77K	ENSP00000275461:E77K	E	-	1	0	FERD3L	19151282	1.000000	0.71417	0.991000	0.47740	0.925000	0.55904	6.714000	0.74692	2.637000	0.89404	0.650000	0.86243	GAG		PASS	0.632	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			11	36	11	36	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93055693	93055693	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:93055693A>G	ENST00000394441.1	-	13	1715	c.1400T>C	c.(1399-1401)aTc>aCc	p.I467T	CALCR_ENST00000421592.1_Missense_Mutation_p.I483T|CALCR_ENST00000360249.4_Missense_Mutation_p.I483T|CALCR_ENST00000426151.1_Missense_Mutation_p.I467T|CALCR_ENST00000359558.2_Missense_Mutation_p.I501T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	501	Poly-Ala.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.I501T(1)|p.I467T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGCTCTATGATATTCAAAGG	0.463																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1501-1503)ATC>ACC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						184.0	158.0	166.0					7																	93055693		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93055693A>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1400T>C	7.37:g.93055693A>G	ENSP00000377959:p.Ile467Thr					CALCR_uc011kia.1_Missense_Mutation_p.I281T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.I467T|CALCR_uc003umw.2_Missense_Mutation_p.I467T	p.I501T	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1763	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		483			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1502T>C	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247002	0.39697	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53206	0.63;0.67;0.67;0.78;0.78	5.11	3.98	0.46160	.	.	.	.	.	T	0.25494	0.0620	L	0.31664	0.95	0.09310	N	1	B;P	0.41041	0.134;0.736	B;B	0.30646	0.041;0.118	T	0.06144	-1.0843	9	0.09084	T	0.74	.	7.0487	0.25061	0.902:0.0:0.098:0.0	.	501;467	F5H605;A4D1G6	.;.	T	501;483;483;467;467	ENSP00000352561:I501T;ENSP00000353385:I483T;ENSP00000399552:I483T;ENSP00000377959:I467T;ENSP00000389295:I467T	ENSP00000352561:I501T	I	-	2	0	CALCR	92893629	0.499000	0.26083	0.381000	0.26106	0.079000	0.17450	1.749000	0.38319	2.284000	0.76573	0.528000	0.53228	ATC		PASS	0.463	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		11	315	11	315	---	---	---	---
SH2B2	10603	broad.mit.edu	37	7	101960886	101960886	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:101960886A>T	ENST00000536178.1	+	9	1646	c.1601A>T	c.(1600-1602)cAc>cTc	p.H534L	SH2B2_ENST00000306803.8_Missense_Mutation_p.H494L			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	495					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.H534L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CGCCACTTCCACACACACCCC	0.637																																						uc011kko.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1612-1614)CAC>CTC		SH2B adaptor protein 2							59.0	66.0	64.0					7																	101960886		2182	4279	6461	SO:0001583	missense	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101960886A>T	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1601A>T	7.37:g.101960886A>T	ENSP00000440273:p.His534Leu						p.H538L	NM_020979	NP_066189	O14492	SH2B2_HUMAN			6	1658	+			495			SH2.		A6ND74	Missense_Mutation	SNP	ENST00000536178.1	37	c.1613A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.8|22.8	4.340594|4.340594	0.81911|0.81911	.|.	.|.	ENSG00000160999|ENSG00000160999	ENST00000536178;ENST00000306803|ENST00000432527	T;T|.	0.43294|.	0.95;0.95|.	4.57|4.57	3.42|3.42	0.39159|0.39159	SH2 motif (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37839|0.37839	0.1018|0.1018	L|L	0.27053|0.27053	0.805|0.805	0.40973|0.40973	D|D	0.984714|0.984714	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.47861|0.47861	-0.9084|-0.9084	9|4	0.72032|.	D|.	0.01|.	-42.3189|-42.3189	9.4878|9.4878	0.38940|0.38940	0.9158:0.0:0.0842:0.0|0.9158:0.0:0.0842:0.0	.|.	495|.	O14492|.	SH2B2_HUMAN|.	L|S	534;494|100	ENSP00000440273:H534L;ENSP00000304701:H494L|.	ENSP00000304701:H494L|.	H|T	+|+	2|1	0|0	SH2B2|SH2B2	101747606|101747606	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.345000|3.345000	0.52182|0.52182	0.895000|0.895000	0.36342|0.36342	0.533000|0.533000	0.62120|0.62120	CAC|ACA		PASS	0.637	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		8	67	8	67	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508490	106508490	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:106508490G>A	ENST00000359195.3	+	2	794	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V162I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V162I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	162					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V162I(3)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCTATGACGTCACTGACGT	0.687																																						uc003vdv.3																			3	Substitution - Missense(3)		liver(2)|lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(484-486)GTC>ATC		phosphoinositide-3-kinase, catalytic, gamma							23.0	26.0	25.0					7																	106508490		2203	4298	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508490G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.484G>A	7.37:g.106508490G>A	ENSP00000352121:p.Val162Ile					PIK3CG_uc003vdu.2_Missense_Mutation_p.V162I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V162I	p.V162I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	569	+			162					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.484G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593262	0.66219	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.71698	-0.59;-0.59;-0.59	5.33	5.33	0.75918	.	0.054483	0.64402	N	0.000001	T	0.66066	0.2752	M	0.66939	2.045	0.80722	D	1	P	0.44946	0.846	B	0.30401	0.115	T	0.70898	-0.4747	10	0.38643	T	0.18	-35.0908	19.3967	0.94610	0.0:0.0:1.0:0.0	.	162	P48736	PK3CG_HUMAN	I	162	ENSP00000392258:V162I;ENSP00000419260:V162I;ENSP00000352121:V162I	ENSP00000352121:V162I	V	+	1	0	PIK3CG	106295726	1.000000	0.71417	0.973000	0.42090	0.682000	0.39822	7.799000	0.85936	2.651000	0.90000	0.467000	0.42956	GTC		PASS	0.687	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			10	24	10	24	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143043685	143043685	+	Silent	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:143043685C>G	ENST00000343257.2	+	19	2385	c.2298C>G	c.(2296-2298)tcC>tcG	p.S766S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	766					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.S766S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAAGACCCTCCATCTTCCAGT	0.547																																						uc003wcr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2296-2298)TCC>TCG		chloride channel 1, skeletal muscle							128.0	118.0	121.0					7																	143043685		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043685C>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2298C>G	7.37:g.143043685C>G						CLCN1_uc011ktc.1_Silent_p.S378S	p.S766S	NM_000083	NP_000074	P35523	CLCN1_HUMAN			19	2385	+	Melanoma(164;0.205)		766			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2298C>G	CCDS5881.1																																																																																				PASS	0.547	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		9	163	9	163	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747957	143747957	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:143747957C>G	ENST00000408906.2	+	1	497	c.463C>G	c.(463-465)Ctg>Gtg	p.L155V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L155V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTTCCCTTCTGGCCCTGGT	0.532																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(463-465)CTG>GTG		olfactory receptor, family 2, subfamily A,							189.0	196.0	194.0					7																	143747957		2109	4242	6351	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747957C>G	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.463C>G	7.37:g.143747957C>G	ENSP00000386208:p.Leu155Val						p.L155V	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	463	+	Melanoma(164;0.0783)		155			Helical; Name=4; (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.463C>G	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	5.005	0.186618	0.09547	.	.	ENSG00000221836	ENST00000408906	T	0.39592	1.07	5.21	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26457	U	0.024277	T	0.34483	0.0899	L	0.27975	0.815	0.22656	N	0.998883	P	0.35872	0.525	P	0.46585	0.521	T	0.22243	-1.0222	10	0.14252	T	0.57	.	7.6925	0.28575	0.0:0.8168:0.0:0.1832	.	155	Q96R48	OR2A5_HUMAN	V	155	ENSP00000386208:L155V	ENSP00000386208:L155V	L	+	1	2	OR2A5	143378890	0.000000	0.05858	0.992000	0.48379	0.369000	0.29798	-0.088000	0.11198	1.445000	0.47624	0.551000	0.68910	CTG		PASS	0.532	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			162	338	162	338	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148815409	148815409	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr7:148815409T>C	ENST00000378061.2	-	2	182	c.50A>G	c.(49-51)tAt>tGt	p.Y17C		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y17C(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCCGAAAAATATAAGGCCAC	0.388																																						uc003wfj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(49-51)TAT>TGT		zinc finger protein 425							211.0	196.0	201.0					7																	148815409		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148815409T>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.50A>G	7.37:g.148815409T>C	ENSP00000367300:p.Tyr17Cys						p.Y17C	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		2	123	-	Melanoma(164;0.15)		17			KRAB.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.50A>G	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	-	14.76	2.632572	0.47049	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.01871	4.59;4.59	3.61	3.61	0.41365	Krueppel-associated box (4);	.	.	.	.	T	0.08537	0.0212	L	0.58510	1.815	0.21782	N	0.999547	D	0.89917	1.0	D	0.91635	0.999	T	0.16630	-1.0396	9	0.45353	T	0.12	.	8.5343	0.33353	0.0:0.0:0.0:1.0	.	17	Q6IV72	ZN425_HUMAN	C	17;39	ENSP00000367300:Y17C;ENSP00000420379:Y39C	ENSP00000367300:Y17C	Y	-	2	0	ZNF425	148446342	0.999000	0.42202	0.121000	0.21740	0.994000	0.84299	2.124000	0.42006	1.499000	0.48617	0.524000	0.50904	TAT		PASS	0.388	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		81	326	81	326	---	---	---	---
KBTBD11	9920	broad.mit.edu	37	8	1950735	1950735	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:1950735C>A	ENST00000320248.3	+	2	2343	c.1377C>A	c.(1375-1377)atC>atA	p.I459I		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	459								p.I459I(1)		lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		ACGGCGAGATCTACGTGTCCG	0.741																																						uc003wpw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1375-1377)ATC>ATA		kelch repeat and BTB (POZ) domain containing 11							11.0	8.0	9.0					8																	1950735		2057	3969	6026	SO:0001819	synonymous_variant	9920							g.chr8:1950735C>A	AB018254	CCDS34795.1	8p23.3	2014-08-12			ENSG00000176595	ENSG00000176595		"""BTB/POZ domain containing"""	29104	protein-coding gene	gene with protein product							Standard	NM_014867		Approved	KIAA0711, KLHDC7C	uc003wpw.4	O94819	OTTHUMG00000163629	ENST00000320248.3:c.1377C>A	8.37:g.1950735C>A							p.I459I	NM_014867	NP_055682	O94819	KBTBB_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)	2	2343	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	459			Kelch 4.		Q3L1I0	Silent	SNP	ENST00000320248.3	37	c.1377C>A	CCDS34795.1																																																																																				PASS	0.741	KBTBD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374601.1	NM_014867		3	9	3	9	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357323	13357323	+	Silent	SNP	G	G	A	rs146650078		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:13357323G>A	ENST00000276297.4	-	2	667	c.258C>T	c.(256-258)gaC>gaT	p.D86D	DLC1_ENST00000511869.1_Silent_p.D86D|DLC1_ENST00000316609.5_Silent_p.D86D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	86					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D86D(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTCATTTTCGTCCACATCCT	0.443																																						uc003wwm.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(256-258)GAC>GAT		deleted in liver cancer 1 isoform 1		G	,	0,4406		0,0,2203	220.0	222.0	221.0		258,258	-1.4	0.3	8	dbSNP_134	221	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DLC1	NM_024767.3,NM_182643.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	86/464,86/1529	13357323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357323G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.258C>T	8.37:g.13357323G>A						DLC1_uc003wwn.2_Silent_p.D86D|DLC1_uc011kxy.1_Silent_p.D86D	p.D86D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	702	-			86					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.258C>T	CCDS5989.1																																																																																				PASS	0.443	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		6	406	6	406	---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17412160	17412160	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:17412160A>G	ENST00000494857.1	+	8	1365	c.1147A>G	c.(1147-1149)Aaa>Gaa	p.K383E	SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Missense_Mutation_p.K383E|SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.K423E	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	383					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.K383E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AATCAATTCCAAAACGAAGAC	0.418																																						uc011kyc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1147-1149)AAA>GAA		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						192.0	182.0	185.0					8																	17412160		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17412160A>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1147A>G	8.37:g.17412160A>G	ENSP00000419140:p.Lys383Glu					SLC7A2_uc011kyd.1_Intron|SLC7A2_uc011kye.1_Missense_Mutation_p.K423E|SLC7A2_uc011kyf.1_Missense_Mutation_p.K383E	p.K383E	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	7	1316	+			383			Cytoplasmic (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1147A>G	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120968	0.77436	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000004531	D;D;D	0.91351	-2.83;-2.83;-2.83	4.58	4.58	0.56647	Amino acid permease domain (1);	.	.	.	.	D	0.95459	0.8525	M	0.93638	3.44	0.80722	D	1	P;P	0.42456	0.547;0.78	B;P	0.53760	0.098;0.734	D	0.96435	0.9322	9	0.72032	D	0.01	.	14.2524	0.66028	1.0:0.0:0.0:0.0	.	423;383	P52569-3;P52569	.;CTR2_HUMAN	E	383;383;423	ENSP00000419140:K383E;ENSP00000430464:K383E;ENSP00000004531:K423E	ENSP00000004531:K423E	K	+	1	0	SLC7A2	17456452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	1.823000	0.53134	0.377000	0.23210	AAA		PASS	0.418	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		88	141	88	141	---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17851086	17851086	+	Silent	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:17851086G>A	ENST00000519253.1	+	29	5012	c.4761G>A	c.(4759-4761)cgG>cgA	p.R1587R	PCM1_ENST00000524226.1_Silent_p.R1541R|PCM1_ENST00000327578.8_Silent_p.R294R|PCM1_ENST00000325083.8_Silent_p.R1595R			Q15154	PCM1_HUMAN	pericentriolar material 1	1595	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.R1595R(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGCTGGACCGGCAAATTAAAG	0.318			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(4783-4785)CGG>CGA		pericentriolar material 1							61.0	57.0	58.0					8																	17851086		1824	4078	5902	SO:0001819	synonymous_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17851086G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.4761G>A	8.37:g.17851086G>A						PCM1_uc011kyh.1_Silent_p.R1587R|PCM1_uc003wyj.3_Silent_p.R1541R|PCM1_uc011kyi.1_Silent_p.R394R|PCM1_uc011kyj.1_Silent_p.R351R|PCM1_uc003wyk.3_Silent_p.R277R|PCM1_uc011kyk.1_Silent_p.R211R	p.R1595R	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	29	5207	+			1595			Interaction with HAP1.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37	c.4785G>A		.	.	.	.	.	.	.	.	.	.	G	9.703	1.154983	0.21371	.	.	ENSG00000078674	ENST00000522275	.	.	.	5.67	-0.702	0.11265	.	.	.	.	.	T	0.41604	0.1166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	-12.9657	1.8531	0.03173	0.2435:0.1041:0.4481:0.2043	.	.	.	.	D	335	.	.	G	+	2	0	PCM1	17895366	0.163000	0.22920	0.984000	0.44739	0.999000	0.98932	-0.590000	0.05760	-0.352000	0.08237	0.655000	0.94253	GGC		PASS	0.318	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	16	3	16	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110439365	110439365	+	Missense_Mutation	SNP	G	G	A	rs199692519		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:110439365G>A	ENST00000378402.5	+	25	3084	c.2980G>A	c.(2980-2982)Gga>Aga	p.G994R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	994					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G996R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGCACCTGCGGAAAGCAGAA	0.473										HNSCC(38;0.096)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.0					uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2980-2982)GGA>AGA		fibrocystin L precursor		G	ARG/GLY	0,3724		0,0,1862	48.0	50.0	50.0		2980	5.4	1.0	8		50	2,8216		0,2,4107	no	missense	PKHD1L1	NM_177531.4	125	0,2,5969	AA,AG,GG		0.0243,0.0,0.0167	probably-damaging	994/4244	110439365	2,11940	1862	4109	5971	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110439365G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2980G>A	8.37:g.110439365G>A	ENSP00000367655:p.Gly994Arg	HNSCC(38;0.096)					p.G994R	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		25	3084	+			994			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2980G>A	CCDS47911.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.9	4.219113	0.79464	0.0	2.43E-4	ENSG00000205038	ENST00000378402	D	0.90069	-2.61	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94522	0.8236	M	0.83223	2.63	0.34516	D	0.707617	D	0.89917	1.0	D	0.97110	1.0	D	0.97601	1.0123	10	0.87932	D	0	.	14.7913	0.69844	0.0:0.0:1.0:0.0	.	994	Q86WI1	PKHL1_HUMAN	R	994	ENSP00000367655:G994R	ENSP00000367655:G994R	G	+	1	0	PKHD1L1	110508541	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.258000	0.65479	2.555000	0.86185	0.591000	0.81541	GGA		PASS	0.473	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		17	59	17	59	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113303772	113303772	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:113303772C>A	ENST00000297405.5	-	56	9185	c.8941G>T	c.(8941-8943)Gga>Tga	p.G2981*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G2941*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G2911*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G2812*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2981	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2941*(1)|p.G2981*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCATTGTCCATTTGGTTGA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8941-8943)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1							96.0	89.0	91.0					8																	113303772		2202	4299	6501	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113303772C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8941G>T	8.37:g.113303772C>A	ENSP00000297405:p.Gly2981*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G2183*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G2941*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G2812*	p.G2981*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			56	9100	-			2981			Extracellular (Potential).|Sushi 20.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.8941G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	51	18.135204	0.99900	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	.	.	.	X	2941;2981;2251;2812;2911	.	ENSP00000297405:G2981X	G	-	1	0	CSMD3	113372948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.703000	0.92315	0.655000	0.94253	GGA		PASS	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	100	18	100	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113564904	113564904	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:113564904A>T	ENST00000297405.5	-	26	4524	c.4280T>A	c.(4279-4281)tTa>tAa	p.L1427*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.L1387*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.L1427*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.L1323*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1427	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1427*(1)|p.L1387*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCAGGAGATAAGATTCTTCC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4279-4281)TTA>TAA		CUB and Sushi multiple domains 3 isoform 1							91.0	85.0	87.0					8																	113564904		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113564904A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4280T>A	8.37:g.113564904A>T	ENSP00000297405:p.Leu1427*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.L699*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.L1387*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.L1323*	p.L1427*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			26	4439	-			1427			Extracellular (Potential).|CUB 8.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.4280T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	46	12.211784	0.99647	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5236	0.67870	1.0:0.0:0.0:0.0	.	.	.	.	X	1387;1427;767;1323;1427	.	ENSP00000297405:L1427X	L	-	2	0	CSMD3	113634080	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.087000	0.94110	2.078000	0.62432	0.533000	0.62120	TTA		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	95	27	95	---	---	---	---
TG	7038	broad.mit.edu	37	8	134145775	134145775	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:134145775G>C	ENST00000220616.4	+	47	8099	c.8059G>C	c.(8059-8061)Gac>Cac	p.D2687H	TG_ENST00000519543.1_Missense_Mutation_p.D820H|TG_ENST00000542445.1_Missense_Mutation_p.D1057H|TG_ENST00000377869.1_Missense_Mutation_p.D2630H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2687					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.D2687H(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCCTGGCCTGACTTTGTACC	0.502																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(8059-8061)GAC>CAC		thyroglobulin precursor							132.0	125.0	128.0					8																	134145775		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134145775G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8059G>C	8.37:g.134145775G>C	ENSP00000220616:p.Asp2687His					TG_uc010mdw.2_Missense_Mutation_p.D1446H|TG_uc011ljb.1_Missense_Mutation_p.D1056H|TG_uc011ljc.1_Missense_Mutation_p.D820H	p.D2687H	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	47	8100	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2687					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8059G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.01|14.01	2.408469|2.408469	0.42715|0.42715	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|.	0.67345|.	-0.26;-0.26;-0.26;-0.26;0.86|.	4.84|4.84	2.87|2.87	0.33458|0.33458	Carboxylesterase, type B (1);|.	0.340396|.	0.25329|.	N|.	0.031447|.	T|.	0.43366|.	0.1244|.	M|M	0.63843|0.63843	1.955|1.955	0.26329|0.26329	N|N	0.977542|0.977542	D;D;P|.	0.60575|.	0.973;0.988;0.692|.	P;P;B|.	0.57776|.	0.827;0.816;0.394|.	T|.	0.34576|.	-0.9823|.	10|.	0.56958|.	D|.	0.05|.	.|.	4.9523|4.9523	0.14021|0.14021	0.1914:0.1746:0.634:0.0|0.1914:0.1746:0.634:0.0	.|.	820;1057;2687|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	H|S	2630;1493;2687;806;1057;820;91|1142	ENSP00000367100:D2630H;ENSP00000220616:D2687H;ENSP00000441693:D1057H;ENSP00000430430:D820H;ENSP00000430161:D91H|.	ENSP00000220616:D2687H|.	D|X	+|+	1|2	0|2	TG|TG	134214957|134214957	0.548000|0.548000	0.26473|0.26473	0.997000|0.997000	0.53966|0.53966	0.565000|0.565000	0.35776|0.35776	0.749000|0.749000	0.26320|0.26320	1.125000|1.125000	0.41998|0.41998	0.561000|0.561000	0.74099|0.74099	GAC|TGA		PASS	0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		29	99	29	99	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141889697	141889698	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:141889697_141889698GC>AT	ENST00000522684.1	-	4	463_464	c.234_235GC>AT	c.(232-237)aaGCat>aaATat	p.H79Y	PTK2_ENST00000517887.1_Missense_Mutation_p.H123Y|PTK2_ENST00000395218.2_Missense_Mutation_p.H79Y|PTK2_ENST00000519419.1_Missense_Mutation_p.H123Y|PTK2_ENST00000520892.1_Missense_Mutation_p.H79Y|PTK2_ENST00000340930.3_Missense_Mutation_p.H79Y|PTK2_ENST00000519881.1_Missense_Mutation_p.H79Y|PTK2_ENST00000521059.1_Missense_Mutation_p.H79Y|PTK2_ENST00000535192.1_Missense_Mutation_p.H79Y	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	79	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.H79Y(2)|p.H101Y(2)|p.K100K(1)|p.K78K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CAGGCCACATGCTTTACTTTGT	0.436																																						uc003yvu.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(235-237)CAT>TAT|c.(232-234)AAG>AAA		PTK2 protein tyrosine kinase 2 isoform a																																				SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141889697G>A|g.chr8:141889698C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.234_235delinsAT	8.37:g.141889697_141889698delinsAT	ENSP00000429911:p.His79Tyr					PTK2_uc003yvr.2_5'UTR|PTK2_uc003yvs.2_Missense_Mutation_p.H79Y|PTK2_uc003yvt.2_Missense_Mutation_p.H101Y|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Missense_Mutation_p.H79Y|PTK2_uc003yvr.2_5'UTR|PTK2_uc003yvs.2_Silent_p.K78K|PTK2_uc003yvt.2_Silent_p.K100K|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Silent_p.K78K	p.H79Y|p.K78K	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		4	465|464	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	79|78			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation|Silent	SNP	ENST00000522684.1	37	c.235C>T|c.234G>A	CCDS6381.1																																																																																				PASS	0.436	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		82|83	400|396	82	396	---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145947101	145947101	+	Silent	SNP	T	T	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr8:145947101T>C	ENST00000292562.7	-	5	2219	c.1944A>G	c.(1942-1944)aaA>aaG	p.K648K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K605K(1)|p.K648K(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTAAAGCAGGTTTCTCTCCAA	0.403																																						uc003zdv.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1942-1944)AAA>AAG		zinc finger protein 251							78.0	78.0	78.0					8																	145947101		2054	4213	6267	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947101T>C	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1944A>G	8.37:g.145947101T>C							p.K648K	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	2200	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		648					Q2M219	Silent	SNP	ENST00000292562.7	37	c.1944A>G	CCDS47944.1																																																																																				PASS	0.403	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		24	65	24	65	---	---	---	---
IFNE	338376	broad.mit.edu	37	9	21481486	21481486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr9:21481486G>A	ENST00000448696.3	-	1	826	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	70					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.Q70*(1)		large_intestine(2)|lung(1)|skin(1)	4						TGGTACTGCTGAGGACTCAAA	0.433																																						uc003zpg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(208-210)CAG>TAG		interferon, epsilon precursor							90.0	83.0	85.0					9																	21481486		2203	4300	6503	SO:0001587	stop_gained	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481486G>A	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.208C>T	9.37:g.21481486G>A	ENSP00000418018:p.Gln70*					LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	p.Q70*	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN			1	827	-			70						Nonsense_Mutation	SNP	ENST00000448696.3	37	c.208C>T	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011820	0.93346	.	.	ENSG00000184995	ENST00000448696	.	.	.	4.6	1.45	0.22620	.	1.177410	0.06087	U	0.662985	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	4.8792	0.13670	0.1014:0.0:0.5224:0.3762	.	.	.	.	X	70	.	ENSP00000418018:Q70X	Q	-	1	0	IFNE	21471486	0.000000	0.05858	0.023000	0.16930	0.010000	0.07245	0.341000	0.19909	0.630000	0.30394	0.561000	0.74099	CAG		PASS	0.433	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		72	44	72	44	---	---	---	---
PGM5	5239	broad.mit.edu	37	9	71094458	71094458	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr9:71094458C>A	ENST00000396396.1	+	8	1513	c.1284C>A	c.(1282-1284)caC>caA	p.H428Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	428					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.H428Q(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTGGCCGCCACTACTATTGCA	0.502																																						uc004agr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1282-1284)CAC>CAA		phosphoglucomutase 5							65.0	71.0	69.0					9																	71094458		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71094458C>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1284C>A	9.37:g.71094458C>A	ENSP00000379678:p.His428Gln						p.H428Q	NM_021965	NP_068800	Q15124	PGM5_HUMAN			8	1513	+			428					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1284C>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003788	0.54254	.	.	ENSG00000154330	ENST00000396396	T	0.63580	-0.05	5.3	3.42	0.39159	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);	0.099031	0.64402	D	0.000002	T	0.64091	0.2567	M	0.77616	2.38	0.53005	D	0.999964	P	0.41420	0.749	B	0.43225	0.412	T	0.68784	-0.5317	10	0.87932	D	0	.	9.165	0.37046	0.0:0.7575:0.0:0.2425	.	428	Q15124	PGM5_HUMAN	Q	428	ENSP00000379678:H428Q	ENSP00000379678:H428Q	H	+	3	2	PGM5	70284278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.255000	0.32909	1.357000	0.45904	0.563000	0.77884	CAC		PASS	0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		22	57	22	57	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79985424	79985424	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr9:79985424G>A	ENST00000360280.3	+	65	9097	c.8837G>A	c.(8836-8838)aGa>aAa	p.R2946K	VPS13A_ENST00000376636.3_Missense_Mutation_p.R2907K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R2946K|VPS13A_ENST00000357409.5_Missense_Mutation_p.R2946K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2946					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R2946K(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAAGAGAAGAGAAGCCATG	0.468																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(8836-8838)AGA>AAA		vacuolar protein sorting 13A isoform A							105.0	100.0	102.0					9																	79985424		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79985424G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8837G>A	9.37:g.79985424G>A	ENSP00000353422:p.Arg2946Lys					VPS13A_uc004akp.3_Missense_Mutation_p.R2946K|VPS13A_uc004akq.3_Missense_Mutation_p.R2946K|VPS13A_uc004aks.2_Missense_Mutation_p.R2907K	p.R2946K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			65	9097	+			2946					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8837G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455059	0.96223	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.54279	0.76;0.58;0.66;0.73	5.49	5.49	0.81192	Autophagy-related, C-terminal (1);	0.091827	0.85682	D	0.000000	T	0.72946	0.3524	M	0.71206	2.165	0.80722	D	1	P;D;D;D	0.89917	0.923;1.0;0.999;0.999	P;D;D;D	0.91635	0.79;0.999;0.974;0.974	T	0.72017	-0.4417	9	.	.	.	.	19.3791	0.94525	0.0:0.0:1.0:0.0	.	2907;2946;2946;2946	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	2946;2907;2946;2946	ENSP00000365821:R2946K;ENSP00000365823:R2907K;ENSP00000353422:R2946K;ENSP00000349985:R2946K	.	R	+	2	0	VPS13A	79175244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.584000	0.87258	0.467000	0.42956	AGA		PASS	0.468	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		25	57	25	57	---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103066024	103066024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr9:103066024C>A	ENST00000374902.4	-	14	2742	c.2566G>T	c.(2566-2568)Gag>Tag	p.E856*	TEX10_ENST00000535814.1_Nonsense_Mutation_p.E840*|TEX10_ENST00000477648.1_5'UTR	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	856						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.E856*(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ACAGGCAGCTCCTCAGGCCCA	0.577																																						uc004bas.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2566-2568)GAG>TAG		testis expressed 10 isoform 1							102.0	98.0	99.0					9																	103066024		2203	4300	6503	SO:0001587	stop_gained	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103066024C>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2566G>T	9.37:g.103066024C>A	ENSP00000364037:p.Glu856*					TEX10_uc011lvf.1_Nonsense_Mutation_p.E695*|TEX10_uc011lvg.1_Nonsense_Mutation_p.E840*	p.E856*	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	14	2781	-		Acute lymphoblastic leukemia(62;0.0527)	856					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Nonsense_Mutation	SNP	ENST00000374902.4	37	c.2566G>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	41	9.134744	0.99077	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	6.02	6.02	0.97574	.	0.044855	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.2862	18.7213	0.91694	0.0:1.0:0.0:0.0	.	.	.	.	X	840;856;724	.	ENSP00000364037:E856X	E	-	1	0	TEX10	102105845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.994000	0.70623	2.865000	0.98341	0.655000	0.94253	GAG		PASS	0.577	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		58	177	58	177	---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129455586	129455586	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr9:129455586C>G	ENST00000373474.4	+	4	732	c.725C>G	c.(724-726)tCg>tGg	p.S242W	LMX1B_ENST00000561065.1_Missense_Mutation_p.S219W|LMX1B_ENST00000425646.2_Missense_Mutation_p.S219W|LMX1B_ENST00000355497.5_Missense_Mutation_p.S242W|LMX1B_ENST00000526117.1_Missense_Mutation_p.S242W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	242					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S219W(1)|p.S242W(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAGGTCTCGTCGAAGCCTTGC	0.692									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc004bqj.2																			2	Substitution - Missense(2)		lung(2)		0	GRCh37	CM042387	LMX1B	M		c.(655-657)TCG>TGG		LIM homeobox transcription factor 1, beta							25.0	28.0	27.0					9																	129455586		2196	4298	6494	SO:0001583	missense	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455586C>G	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.725C>G	9.37:g.129455586C>G	ENSP00000362573:p.Ser242Trp					LMX1B_uc004bqi.2_Missense_Mutation_p.S219W|LMX1B_uc011maa.1_Missense_Mutation_p.S219W	p.S219W	NM_002316	NP_002307	O60663	LMX1B_HUMAN			4	706	+			219			Homeobox.		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.656C>G	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770261	0.69992	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	4.97	4.97	0.65823	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.99060	1.0830	10	0.87932	D	0	.	17.2153	0.86941	0.0:1.0:0.0:0.0	.	219;219;242	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	242;242;242;219	ENSP00000436930:S242W;ENSP00000362573:S242W;ENSP00000347684:S242W;ENSP00000390923:S219W	ENSP00000347684:S242W	S	+	2	0	LMX1B	128495407	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	7.431000	0.80335	2.299000	0.77371	0.462000	0.41574	TCG		PASS	0.692	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			8	4	8	4	---	---	---	---
PIP5KL1	138429	broad.mit.edu	37	9	130688212	130688212	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr9:130688212G>T	ENST00000388747.4	-	8	741	c.697C>A	c.(697-699)Cct>Act	p.P233T	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.P30T|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	233	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.P233T(1)|p.P30T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CTGCCCTCAGGGGCGGGATCC	0.582																																						uc011mao.1																			2	Substitution - Missense(2)		lung(2)	lung(1)|kidney(1)	2						c.(697-699)CCT>ACT		phosphatidylinositol-4-phosphate 5-kinase-like 1							48.0	49.0	49.0					9																	130688212		2203	4300	6503	SO:0001583	missense	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130688212G>T	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.697C>A	9.37:g.130688212G>T	ENSP00000373399:p.Pro233Thr					PIP5KL1_uc004bsu.2_Missense_Mutation_p.P30T	p.P233T	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN			8	742	-			233			PIPK.		Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	c.697C>A	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661200	0.67700	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.34472	1.36;1.36	5.31	3.46	0.39613	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.172440	0.51477	D	0.000086	T	0.48892	0.1525	L	0.52759	1.655	0.54753	D	0.999985	D	0.89917	1.0	D	0.76575	0.988	T	0.31833	-0.9929	10	0.30854	T	0.27	-10.5443	9.9516	0.41642	0.1686:0.0:0.8314:0.0	.	233	Q5T9C9	PI5L1_HUMAN	T	233;30	ENSP00000373399:P233T;ENSP00000300432:P30T	ENSP00000300432:P30T	P	-	1	0	PIP5KL1	129728033	1.000000	0.71417	0.990000	0.47175	0.861000	0.49209	3.814000	0.55643	0.719000	0.32188	0.491000	0.48974	CCT		PASS	0.582	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		60	29	60	29	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50966569	50966569	+	Missense_Mutation	SNP	C	C	A	rs564672105		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr10:50966569C>A	ENST00000374103.4	-	2	155	c.70G>T	c.(70-72)Gtc>Ttc	p.V24F	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.V24F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	24					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.V24F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AACACCGGGACGTCATGTGCA	0.612																																						uc001jie.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(70-72)GTC>TTC		oxoglutarate dehydrogenase-like isoform a							49.0	48.0	48.0					10																	50966569		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50966569C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.70G>T	10.37:g.50966569C>A	ENSP00000363216:p.Val24Phe					OGDHL_uc009xog.2_Missense_Mutation_p.V51F|OGDHL_uc010qgt.1_Missense_Mutation_p.V24F|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_Intron	p.V24F	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			2	212	-			24					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.70G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.078674	0.36662	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.07327	3.36;3.2	5.91	-0.571	0.11749	.	1.368530	0.04441	N	0.370958	T	0.05456	0.0144	N	0.08118	0	0.09310	N	0.999999	B;B	0.26041	0.14;0.002	B;B	0.28465	0.09;0.006	T	0.45279	-0.9272	10	0.28530	T	0.3	.	9.6578	0.39936	0.0:0.4815:0.0:0.5185	.	24;24	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	F	24	ENSP00000363216:V24F;ENSP00000401356:V24F	ENSP00000363216:V24F	V	-	1	0	OGDHL	50636575	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.432000	0.06956	-0.392000	0.07751	-1.564000	0.00881	GTC		PASS	0.612	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		7	52	7	52	---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99667794	99667794	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr10:99667794A>T	ENST00000370597.3	-	6	1181	c.826T>A	c.(826-828)Ttt>Att	p.F276I	CRTAC1_ENST00000370591.2_Missense_Mutation_p.F276I|CRTAC1_ENST00000298819.4_Missense_Mutation_p.F276I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	276						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.F276I(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCGTCCACAAAGGTGCCATCG	0.627																																						uc001kou.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(826-828)TTT>ATT		cartilage acidic protein 1 precursor							78.0	61.0	67.0					10																	99667794		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99667794A>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.826T>A	10.37:g.99667794A>T	ENSP00000359629:p.Phe276Ile					CRTAC1_uc001kov.2_Missense_Mutation_p.F265I|CRTAC1_uc001kot.1_Missense_Mutation_p.F66I	p.F276I	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	6	1182	-		Colorectal(252;0.24)	276					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.826T>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	A	32	5.105987	0.94292	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.27	5.27	0.74061	.	0.054803	0.64402	D	0.000001	T	0.72771	0.3502	H	0.99273	4.495	0.54753	D	0.999988	D;D;D	0.67145	0.995;0.982;0.996	D;P;D	0.72982	0.951;0.864;0.979	D	0.85342	0.1096	10	0.87932	D	0	-19.7653	15.2009	0.73136	1.0:0.0:0.0:0.0	.	276;276;172	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	I	172;276;276;268;276	ENSP00000408445:F172I;ENSP00000359629:F276I;ENSP00000298819:F276I;ENSP00000310810:F268I;ENSP00000359623:F276I	ENSP00000298819:F276I	F	-	1	0	CRTAC1	99657784	1.000000	0.71417	0.978000	0.43139	0.893000	0.52053	9.162000	0.94745	1.996000	0.58369	0.454000	0.30748	TTT		PASS	0.627	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		8	46	8	46	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103901185	103901185	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr10:103901185A>G	ENST00000278070.2	+	5	2959	c.2920A>G	c.(2920-2922)Agt>Ggt	p.S974G	PPRC1_ENST00000413464.2_Missense_Mutation_p.S974G|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	974	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S974G(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACCTTACAGTTCCACATG	0.607																																						uc001kum.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2920-2922)AGT>GGT		peroxisome proliferator-activated receptor							61.0	56.0	58.0					10																	103901185		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901185A>G	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2920A>G	10.37:g.103901185A>G	ENSP00000278070:p.Ser974Gly					PPRC1_uc001kun.2_Missense_Mutation_p.S854G|PPRC1_uc010qqj.1_Missense_Mutation_p.S974G|PPRC1_uc009xxa.2_RNA	p.S974G	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2959	+		Colorectal(252;0.122)	974			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2920A>G	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689949	0.29962	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.24908	1.83;1.83	5.79	3.47	0.39725	.	0.611325	0.17679	N	0.165687	T	0.14960	0.0361	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.15549	-1.0433	10	0.48119	T	0.1	.	3.1193	0.06386	0.4916:0.222:0.2864:0.0	.	974;854;974	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	G	974	ENSP00000278070:S974G;ENSP00000399743:S974G	ENSP00000278070:S974G	S	+	1	0	PPRC1	103891175	0.270000	0.24152	0.133000	0.22050	0.942000	0.58702	2.641000	0.46587	1.031000	0.39867	0.379000	0.24179	AGT		PASS	0.607	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		24	80	24	80	---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104809514	104809514	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr10:104809514G>A	ENST00000369878.4	+	2	1860	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	CNNM2_ENST00000433628.2_Missense_Mutation_p.D558N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	558	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.D558N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGAGAAGGGGATCCATTTTA	0.368																																						uc001kwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1672-1674)GAT>AAT		cyclin M2 isoform 1							174.0	171.0	171.0					10																	104809514		1880	4151	6031	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104809514G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1672G>A	10.37:g.104809514G>A	ENSP00000358894:p.Asp558Asn					CNNM2_uc001kwn.2_Missense_Mutation_p.D558N	p.D558N	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	2	1796	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	558			CBS 2.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1672G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482637	0.96307	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.46819	0.86;0.86	5.61	5.61	0.85477	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	M	0.88181	2.935	0.80722	D	1	P;P	0.42203	0.705;0.773	P;P	0.55615	0.766;0.78	T	0.76615	-0.2894	10	0.87932	D	0	.	19.6562	0.95842	0.0:0.0:1.0:0.0	.	558;558	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	N	558	ENSP00000392875:D558N;ENSP00000358894:D558N	ENSP00000286899:D558N	D	+	1	0	CNNM2	104799504	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.363000	0.97131	2.639000	0.89480	0.555000	0.69702	GAT		PASS	0.368	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		36	149	36	149	---	---	---	---
Unknown	0	broad.mit.edu	37	10	135491085	135491085	+	IGR	SNP	T	T	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr10:135491085T>A								AL845259.1 (17906 upstream) : None (None downstream)																							CCGGCGGGGGTCACCCTGCTC	0.741																																						uc010qvi.1																			0					0						c.(694-696)GGT>GGA		double homeobox, 4-like																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491085T>A																													10.37:g.135491085T>A							p.G232G	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	807	+			232						Silent	SNP		37	c.696T>A																																																																																				0	PASS	0.741									5	31	5	31	---	---	---	---
OR51F2	119694	broad.mit.edu	37	11	4842815	4842815	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:4842815G>C	ENST00000322110.5	+	1	265	c.200G>C	c.(199-201)cGg>cCg	p.R67P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R67P(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTGAACGGAGCCTCCAT	0.478																																						uc010qyn.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(199-201)CGG>CCG		olfactory receptor, family 51, subfamily F,							238.0	232.0	234.0					11																	4842815		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842815G>C	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.200G>C	11.37:g.4842815G>C	ENSP00000323952:p.Arg67Pro						p.R67P	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	200	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	67			Cytoplasmic (Potential).		Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.200G>C	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.904594	0.00057	.	.	ENSG00000176925	ENST00000322110	T	0.02236	4.38	4.43	0.688	0.18027	GPCR, rhodopsin-like superfamily (1);	1.555310	0.04632	U	0.403880	T	0.01189	0.0039	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41484	-0.9506	10	0.02654	T	1	.	7.833	0.29353	0.6454:0.0:0.3546:0.0	.	67	Q8NH61	O51F2_HUMAN	P	67	ENSP00000323952:R67P	ENSP00000323952:R67P	R	+	2	0	OR51F2	4799391	0.000000	0.05858	0.436000	0.26797	0.134000	0.20937	-0.500000	0.06405	0.022000	0.15160	-0.340000	0.08031	CGG		PASS	0.478	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		55	277	55	277	---	---	---	---
OR2AG2	338755	broad.mit.edu	37	11	6789764	6789764	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:6789764C>A	ENST00000338569.2	-	1	522	c.425G>T	c.(424-426)tGg>tTg	p.W142L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W142L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCATGATCCAGCAGACTCT	0.517																																						uc001meq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(424-426)TGG>TTG		olfactory receptor, family 2, subfamily AG,							100.0	83.0	89.0					11																	6789764		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789764C>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.425G>T	11.37:g.6789764C>A	ENSP00000342697:p.Trp142Leu						p.W142L	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	425	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	142			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.425G>T	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.195588	0.00299	.	.	ENSG00000188124	ENST00000338569	T	0.34472	1.36	4.36	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.153716	0.31177	N	0.008110	T	0.16896	0.0406	N	0.03050	-0.425	0.33104	D	0.539568	P	0.38535	0.635	P	0.46389	0.515	T	0.32348	-0.9910	10	0.02654	T	1	.	7.577	0.27942	0.1895:0.6273:0.1832:0.0	.	142	A6NM03	O2AG2_HUMAN	L	142	ENSP00000342697:W142L	ENSP00000342697:W142L	W	-	2	0	OR2AG2	6746340	0.000000	0.05858	0.744000	0.31058	0.046000	0.14306	0.825000	0.27393	1.403000	0.46800	0.655000	0.94253	TGG		PASS	0.517	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		21	73	21	73	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55321900	55321900	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:55321900C>G	ENST00000314644.2	+	1	118	c.118C>G	c.(118-120)Cta>Gta	p.L40V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L40V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TAATTGCAGACTATACATGAT	0.383										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(118-120)CTA>GTA		olfactory receptor, family 4, subfamily C,							166.0	166.0	166.0					11																	55321900		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321900C>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.118C>G	11.37:g.55321900C>G	ENSP00000324958:p.Leu40Val	HNSCC(20;0.049)					p.L40V	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	118	+			Error:Variant_position_missing_in_Q8NGM1_after_alignment					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.118C>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330889	0.24167	.	.	ENSG00000181939	ENST00000314644	T	0.00003	9.84	4.77	-8.47	0.00939	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18366	-1.0339	6	0.52906	T	0.07	.	0.6661	0.00851	0.4228:0.1595:0.2084:0.2092	.	.	.	.	V	40	ENSP00000324958:L40V	ENSP00000324958:L40V	L	+	1	2	OR4C15	55078476	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.295000	0.02764	-1.820000	0.01215	-0.729000	0.03580	CTA		PASS	0.383	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		64	269	64	269	---	---	---	---
FAM111A	63901	broad.mit.edu	37	11	58920509	58920509	+	Silent	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:58920509A>T	ENST00000528737.1	+	5	4186	c.1368A>T	c.(1366-1368)ctA>ctT	p.L456L	FAM111A_ENST00000361723.3_Silent_p.L456L|FAM111A_ENST00000531147.1_Silent_p.L456L|FAM111A_ENST00000420244.1_Silent_p.L456L|FAM111A_ENST00000533703.1_Silent_p.L456L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	456	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L456L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTATGGAACTATATAATGGAA	0.383																																						uc010rkp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1366-1368)CTA>CTT		hypothetical protein LOC63901							83.0	88.0	86.0					11																	58920509		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920509A>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1368A>T	11.37:g.58920509A>T						FAM111A_uc010rkq.1_Silent_p.L456L|FAM111A_uc010rkr.1_Silent_p.L456L|FAM111A_uc001nno.2_Silent_p.L456L|FAM111A_uc001nnp.2_Silent_p.L456L|FAM111A_uc001nnq.2_Silent_p.L456L	p.L456L	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	1595	+		all_epithelial(135;0.139)	456					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.1368A>T	CCDS7973.1																																																																																				PASS	0.383	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		50	134	50	134	---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64507609	64507609	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:64507609A>T	ENST00000354024.3	-	6	650	c.398T>A	c.(397-399)gTg>gAg	p.V133E	RASGRP2_ENST00000377494.1_Missense_Mutation_p.V133E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.V133E|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V133E	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	133					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.V195E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGCTGAGTCACCTGCCGCTT	0.602																																						uc009ypu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)GTG>GAG		RAS guanyl releasing protein 2							76.0	77.0	77.0					11																	64507609		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64507609A>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.398T>A	11.37:g.64507609A>T	ENSP00000338864:p.Val133Glu					RASGRP2_uc001oat.2_Missense_Mutation_p.V35E|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Missense_Mutation_p.V133E|RASGRP2_uc009ypw.2_Missense_Mutation_p.V133E	p.V133E	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			6	625	-			133					A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.398T>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603177	0.87157	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.02	4.02	0.46733	Ras guanine nucleotide exchange factor, domain (1);	0.155915	0.42172	D	0.000741	T	0.42539	0.1207	M	0.61703	1.905	0.80722	D	1	D;D	0.64830	0.991;0.994	P;P	0.54706	0.69;0.759	T	0.34650	-0.9820	10	0.48119	T	0.1	-7.5108	11.2155	0.48823	1.0:0.0:0.0:0.0	.	133;133	Q7LDG7;A6NDC7	GRP2_HUMAN;.	E	133	ENSP00000366714:V133E;ENSP00000377953:V133E;ENSP00000366717:V133E;ENSP00000338864:V133E;ENSP00000399114:V133E	ENSP00000338864:V133E	V	-	2	0	RASGRP2	64264185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.793000	0.75130	1.597000	0.50072	0.459000	0.35465	GTG		PASS	0.602	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		24	72	24	72	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67174428	67174428	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:67174428T>G	ENST00000542590.1	+	7	793	c.779T>G	c.(778-780)tTc>tGc	p.F260C	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.F260C|TBC1D10C_ENST00000526387.1_Intron			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	260	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.F260C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGTGCCTCTTCGCCCGCTCC	0.682																																						uc001ola.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)TTC>TGC		TBC1 domain family, member 10C							132.0	141.0	138.0					11																	67174428		2200	4295	6495	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67174428T>G	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.779T>G	11.37:g.67174428T>G	ENSP00000443654:p.Phe260Cys					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Intron|TBC1D10C_uc001olb.2_RNA	p.F260C	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		8	808	+			260			Rab-GAP TBC.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.779T>G	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210795	0.79240	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.53423	0.62;0.62	4.16	4.16	0.48862	Rab-GAP/TBC domain (4);	0.000000	0.43416	D	0.000565	T	0.72342	0.3448	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78770	-0.2074	10	0.87932	D	0	.	12.3138	0.54944	0.0:0.0:0.0:1.0	.	260	Q8IV04	TB10C_HUMAN	C	260	ENSP00000310193:F260C;ENSP00000443654:F260C	ENSP00000310193:F260C	F	+	2	0	TBC1D10C	66931004	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.013000	0.57138	1.756000	0.51951	0.379000	0.24179	TTC		PASS	0.682	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		123	150	123	150	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73021927	73021927	+	Silent	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:73021927A>G	ENST00000263674.3	+	1	2594	c.2244A>G	c.(2242-2244)gaA>gaG	p.E748E	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	748					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E748E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACCTCTGAAGAGCCTACTG	0.622																																						uc001otu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2242-2244)GAA>GAG		Rho guanine nucleotide exchange factor (GEF) 17							35.0	39.0	38.0					11																	73021927		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021927A>G	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2244A>G	11.37:g.73021927A>G							p.E748E	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	2265	+			748					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.2244A>G	CCDS8221.1																																																																																				PASS	0.622	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		17	69	17	69	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89431699	89431699	+	RNA	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:89431699A>G	ENST00000532352.1	+	0	1981							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.K421E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGGAGATGTGAAGAGACAGAT	0.458																																						uc001pda.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1261-1263)AAG>GAG		folate hydrolase 1B							141.0	134.0	136.0					11																	89431699		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89431699A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431699A>G							p.K421E	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			14	1787	+			421						Missense_Mutation	SNP	ENST00000532352.1	37	c.1261A>G																																																																																					PASS	0.458	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		102	99	102	99	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92715352	92715352	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:92715352G>T	ENST00000257068.2	+	2	969	c.963G>T	c.(961-963)agG>agT	p.R321S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	321					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.R321S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AATACAAGAGGATCCTCTTGG	0.532																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(961-963)AGG>AGT		melatonin receptor 1B	Ramelteon(DB00980)						152.0	164.0	160.0					11																	92715352		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715352G>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.963G>T	11.37:g.92715352G>T	ENSP00000257068:p.Arg321Ser						p.R321S	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	1066	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	321			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.963G>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033931	0.19590	.	.	ENSG00000134640	ENST00000257068	T	0.39056	1.1	3.84	-0.018	0.13966	.	0.292413	0.30969	N	0.008520	T	0.33731	0.0873	M	0.72479	2.2	0.43555	D	0.99586	B	0.23249	0.082	B	0.29524	0.103	T	0.06427	-1.0827	10	0.23302	T	0.38	-3.4185	1.9438	0.03352	0.281:0.146:0.4267:0.1463	.	321	P49286	MTR1B_HUMAN	S	321	ENSP00000257068:R321S	ENSP00000257068:R321S	R	+	3	2	MTNR1B	92355000	0.999000	0.42202	0.570000	0.28473	0.119000	0.20118	0.609000	0.24238	-0.037000	0.13646	0.313000	0.20887	AGG		PASS	0.532	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			80	319	80	319	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94731718	94731718	+	Silent	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:94731718G>C	ENST00000335080.5	+	3	2014	c.1182G>C	c.(1180-1182)ggG>ggC	p.G394G	KDM4D_ENST00000536741.1_Silent_p.G394G	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	394					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.G394G(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCCGCAGTGGGACACGGTGCC	0.627																																						uc001pfe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1180-1182)GGG>GGC		jumonji domain containing 2D							59.0	50.0	53.0					11																	94731718		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731718G>C	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1182G>C	11.37:g.94731718G>C							p.G394G	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	2014	+			394					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1182G>C	CCDS8302.1																																																																																				PASS	0.627	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		18	46	18	46	---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134253790	134253790	+	Silent	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr11:134253790G>A	ENST00000524765.1	-	3	4949	c.405C>T	c.(403-405)cgC>cgT	p.R135R	B3GAT1_ENST00000312527.4_Silent_p.R135R|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000392580.1_Silent_p.R135R|B3GAT1_ENST00000537389.1_Silent_p.R148R			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	135					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R135R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCCGGTGTCGCGCAGCAGGC	0.716																																						uc001qhq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(403-405)CGC>CGT		beta-1,3-glucuronyltransferase 1							27.0	26.0	26.0					11																	134253790		2173	4215	6388	SO:0001819	synonymous_variant	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253790G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.405C>T	11.37:g.134253790G>A						B3GAT1_uc001qhr.2_Silent_p.R135R|B3GAT1_uc010scv.1_Silent_p.R148R	p.R135R	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	666	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	135			Lumenal (Potential).		Q96FS7	Silent	SNP	ENST00000524765.1	37	c.405C>T	CCDS8500.1																																																																																				PASS	0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		3	6	3	6	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546585	11546585	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr12:11546585G>T	ENST00000389362.4	-	3	462	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	143	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P143T(1)|p.P122T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGTGGGGGTGGTCCTTGT	0.592																																						uc010shk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(427-429)CCC>ACC		proline-rich protein BstNI subfamily 2							198.0	183.0	188.0					12																	11546585		2199	4295	6494	SO:0001583	missense	653247							g.chr12:11546585G>T	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.427C>A	12.37:g.11546585G>T	ENSP00000374013:p.Pro143Thr						p.P143T	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	462	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.427C>A	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	4.905	0.168140	0.09339	.	.	ENSG00000121335	ENST00000389362	T	0.11385	2.78	1.42	-2.83	0.05769	.	0.219768	0.21055	U	0.080921	T	0.10380	0.0254	M	0.84219	2.685	0.09310	N	1	B	0.27166	0.17	B	0.21151	0.033	T	0.36359	-0.9751	10	0.20046	T	0.44	.	4.1628	0.10293	0.0:0.2048:0.3867:0.4085	.	143	P02812	PRB2_HUMAN	T	143	ENSP00000374013:P143T	ENSP00000374013:P143T	P	-	1	0	PRB2	11437852	0.019000	0.18553	0.000000	0.03702	0.130000	0.20726	0.301000	0.19174	-1.378000	0.02120	0.186000	0.17326	CCC		PASS	0.592	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		98	470	98	470	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39763666	39763666	+	Silent	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr12:39763666G>A	ENST00000361418.5	-	3	330	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KIF21A_ENST00000544797.2_Silent_p.N105N|KIF21A_ENST00000361961.3_Silent_p.N105N|KIF21A_ENST00000541463.2_Silent_p.N105N|KIF21A_ENST00000395670.3_Silent_p.N105N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	105	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N105N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTCAACAATGTTAACATCAA	0.338																																						uc001rly.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(313-315)AAC>AAT		kinesin family member 21A							96.0	92.0	94.0					12																	39763666		2202	4300	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763666G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.315C>T	12.37:g.39763666G>A						KIF21A_uc001rlx.2_Silent_p.N105N|KIF21A_uc001rlz.2_Silent_p.N105N|KIF21A_uc010skl.1_Silent_p.N105N|KIF21A_uc001rma.1_Silent_p.N105N	p.N105N	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			3	461	-		Lung NSC(34;0.179)|all_lung(34;0.213)	105			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.315C>T	CCDS53776.1																																																																																				PASS	0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		24	88	24	88	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45173490	45173490	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr12:45173490T>A	ENST00000429094.2	-	5	1066	c.562A>T	c.(562-564)Aca>Tca	p.T188S	NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.T188S|NELL2_ENST00000437801.2_Missense_Mutation_p.T238S|NELL2_ENST00000551601.1_Missense_Mutation_p.T187S|NELL2_ENST00000333837.4_Missense_Mutation_p.T211S|NELL2_ENST00000395487.2_Missense_Mutation_p.T187S|NELL2_ENST00000549027.1_Missense_Mutation_p.T187S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	188	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T188S(1)|p.T238S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGCCAAAATGTTGTGCCTAGA	0.368																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(562-564)ACA>TCA		NEL-like protein 2 isoform b precursor							90.0	86.0	87.0					12																	45173490		2203	4299	6502	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173490T>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.562A>T	12.37:g.45173490T>A	ENSP00000390680:p.Thr188Ser					NELL2_uc001rof.3_Missense_Mutation_p.T187S|NELL2_uc001roh.2_Missense_Mutation_p.T188S|NELL2_uc009zkd.2_Missense_Mutation_p.T187S|NELL2_uc010skz.1_Missense_Mutation_p.T238S|NELL2_uc010sla.1_Missense_Mutation_p.T211S|NELL2_uc001roi.1_Missense_Mutation_p.T188S|NELL2_uc010slb.1_Missense_Mutation_p.T187S|NELL2_uc001roj.2_Missense_Mutation_p.T188S	p.T188S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	5	1157	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	188			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.562A>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	T	4.833	0.154842	0.09236	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993	T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.48	4.31	0.51392	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.220028	0.47093	N	0.000241	T	0.57021	0.2025	N	0.11023	0.085	0.31755	N	0.634139	B;B;B;B;B;B	0.31968	0.349;0.003;0.007;0.014;0.009;0.002	B;B;B;B;B;B	0.37550	0.253;0.019;0.01;0.007;0.017;0.01	T	0.56450	-0.7977	10	0.18276	T	0.48	-1.994	4.5876	0.12289	0.1526:0.1456:0.0:0.7018	.	211;238;187;188;188;187	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	187;188;187;188;187;211;238;187;188	ENSP00000378866:T187S;ENSP00000390680:T188S;ENSP00000449332:T187S;ENSP00000394612:T188S;ENSP00000447927:T187S;ENSP00000327988:T211S;ENSP00000416341:T238S;ENSP00000447085:T188S	ENSP00000327988:T211S	T	-	1	0	NELL2	43459757	1.000000	0.71417	0.920000	0.36463	0.692000	0.40212	1.329000	0.33770	0.864000	0.35578	0.528000	0.53228	ACA		PASS	0.368	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		25	107	25	107	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112478342	112478342	+	Silent	SNP	T	T	C	rs112342385		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr12:112478342T>C	ENST00000261745.4	-	21	2729	c.2481A>G	c.(2479-2481)aaA>aaG	p.K827K	MIR3657_ENST00000584818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	827						cytoplasm (GO:0005737)		p.K827K(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGTTACCATCTTTAACTTCTA	0.289																																						uc001ttm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(2479-2481)AAA>AAG		mitochondrial distribution and morphology 20							78.0	77.0	77.0					12																	112478342		2202	4296	6498	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112478342T>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2481A>G	12.37:g.112478342T>C						NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.K799K|NAA25_uc009zwa.1_Silent_p.K805K	p.K827K	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			21	2501	-			827					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.2481A>G	CCDS9159.1																																																																																				PASS	0.289	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		24	100	24	100	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133215752	133215752	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr12:133215752C>A	ENST00000320574.5	-	40	5554	c.5511G>T	c.(5509-5511)ctG>ctT	p.L1837L	POLE_ENST00000535270.1_Silent_p.L1810L|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1837					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.L1837L(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTGTGCGGTGCAGGGCAGGGT	0.577								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001uks.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5509-5511)CTG>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							257.0	175.0	203.0					12																	133215752		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133215752C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5511G>T	12.37:g.133215752C>A			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1601	POLE_uc001ukq.1_Silent_p.L47L|POLE_uc001ukr.1_Silent_p.L641L|POLE_uc010tbq.1_RNA	p.L1837L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	40	5555	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1837					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.5511G>T	CCDS9278.1																																																																																				PASS	0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		14	88	14	88	---	---	---	---
PROZ	8858	broad.mit.edu	37	13	113819369	113819369	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr13:113819369C>A	ENST00000375547.2	+	6	515	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	RP11-98F14.11_ENST00000600642.1_RNA|PROZ_ENST00000342783.4_Missense_Mutation_p.Q192K|PROZ_ENST00000493630.1_3'UTR	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	170					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.Q170K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AAATGCAGACCAGTGTGCCTG	0.522																																						uc001vta.1																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)CAG>AAG		protein Z, vitamin K-dependent plasma	Menadione(DB00170)						77.0	72.0	74.0					13																	113819369		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113819369C>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.508C>A	13.37:g.113819369C>A	ENSP00000364697:p.Gln170Lys					PROZ_uc010agr.1_Missense_Mutation_p.Q192K	p.Q170K	NM_003891	NP_003882	P22891	PROZ_HUMAN	all cancers(43;0.104)		6	515	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	170					A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.508C>A	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.266396	0.00259	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92752	-3.1;-3.1	2.8	0.108	0.14548	.	0.679654	0.13437	N	0.387971	T	0.80783	0.4689	N	0.08118	0	0.26562	N	0.973711	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.70425	-0.4875	10	0.87932	D	0	.	6.883	0.24183	0.5408:0.4592:0.0:0.0	.	192;170	P22891-2;P22891	.;PROZ_HUMAN	K	170;192	ENSP00000364697:Q170K;ENSP00000344458:Q192K	ENSP00000344458:Q192K	Q	+	1	0	PROZ	112867370	0.958000	0.32768	0.434000	0.26772	0.183000	0.23260	0.731000	0.26058	-0.077000	0.12752	0.313000	0.20887	CAG		PASS	0.522	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		32	26	32	26	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65253722	65253722	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr14:65253722C>T	ENST00000389721.5	-	15	2993	c.2961G>A	c.(2959-2961)ctG>ctA	p.L987L	SPTB_ENST00000389722.3_Silent_p.L987L|SPTB_ENST00000542895.1_Silent_p.L987L|SPTB_ENST00000389720.3_Silent_p.L987L|SPTB_ENST00000556626.1_Silent_p.L987L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	987					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.L987L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGATACCTGCCAGGTCCCGCC	0.602																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2959-2961)CTG>CTA		spectrin beta isoform b							85.0	78.0	81.0					14																	65253722		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253722C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2961G>A	14.37:g.65253722C>T						SPTB_uc001xhr.2_Silent_p.L987L|SPTB_uc001xhs.2_Silent_p.L987L|SPTB_uc001xhu.2_Silent_p.L987L	p.L987L	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3015	-		all_lung(585;4.15e-09)	987			Spectrin 7.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2961G>A	CCDS32100.1																																																																																				PASS	0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			32	41	32	41	---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25615718	25615718	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr15:25615718C>A	ENST00000397954.2	-	4	1611	c.1612G>T	c.(1612-1614)Gtc>Ttc	p.V538F	UBE3A_ENST00000428984.2_Missense_Mutation_p.V515F|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.V515F|UBE3A_ENST00000566215.1_Missense_Mutation_p.V515F|UBE3A_ENST00000232165.3_Missense_Mutation_p.V535F			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	538					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.V538F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTACCCGGACAAGTGCATCA	0.368																																						uc001zaq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(1612-1614)GTC>TTC		ubiquitin protein ligase E3A isoform 2							134.0	126.0	129.0					15																	25615718		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25615718C>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1612G>T	15.37:g.25615718C>A	ENSP00000381045:p.Val538Phe					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.V515F|UBE3A_uc001zas.2_Missense_Mutation_p.V535F|UBE3A_uc001zat.2_Missense_Mutation_p.V515F	p.V538F	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	1612	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	538					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1612G>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181370	0.78677	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.42	5.42	0.78866	HECT (1);	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	L	0.58583	1.82	0.80722	D	1	P;D	0.89917	0.953;1.0	P;D	0.74348	0.468;0.983	D	0.83371	0.0007	10	0.30854	T	0.27	.	19.2105	0.93753	0.0:1.0:0.0:0.0	.	535;538	Q05086-3;Q05086	.;UBE3A_HUMAN	F	535;535;538;515;515	ENSP00000232165:V535F;ENSP00000381045:V538F;ENSP00000411258:V515F;ENSP00000401265:V515F	ENSP00000232165:V535F	V	-	1	0	UBE3A	23166811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.553000	0.86117	0.591000	0.81541	GTC		PASS	0.368	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		47	311	47	311	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28421627	28421627	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr15:28421627C>A	ENST00000261609.7	-	63	9741	c.9633G>T	c.(9631-9633)gaG>gaT	p.E3211D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.E3211D(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGCTCCACACTCAATCTGGC	0.542																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(9631-9633)GAG>GAT		hect domain and RLD 2							83.0	82.0	82.0					15																	28421627		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28421627C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9633G>T	15.37:g.28421627C>A	ENSP00000261609:p.Glu3211Asp						p.E3211D	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	63	9739	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3211			RCC1 10.			Missense_Mutation	SNP	ENST00000261609.7	37	c.9633G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008772	0.75046	.	.	ENSG00000128731	ENST00000261609	D	0.85013	-1.93	5.66	3.78	0.43462	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	N	0.12569	0.235	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.82633	-0.0361	10	0.51188	T	0.08	.	9.4641	0.38802	0.0:0.7844:0.0:0.2156	.	3211	O95714	HERC2_HUMAN	D	3211	ENSP00000261609:E3211D	ENSP00000261609:E3211D	E	-	3	2	HERC2	26095222	0.752000	0.28338	1.000000	0.80357	0.997000	0.91878	-0.047000	0.11963	0.749000	0.32854	0.591000	0.81541	GAG		PASS	0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		20	156	20	156	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31294195	31294195	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr15:31294195G>C	ENST00000256552.6	-	28	4855	c.4708C>G	c.(4708-4710)Ctc>Gtc	p.L1570V	TRPM1_ENST00000542188.1_Missense_Mutation_p.L1587V|TRPM1_ENST00000397795.2_Missense_Mutation_p.L1548V|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.L1548V(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTTGACCTGAGAGATGGGAAT	0.423																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(4642-4644)CTC>GTC		transient receptor potential cation channel,							201.0	183.0	189.0					15																	31294195		1883	4115	5998	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294195G>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4708C>G	15.37:g.31294195G>C	ENSP00000256552:p.Leu1570Val					TRPM1_uc010azy.2_Missense_Mutation_p.L1455V|TRPM1_uc001zfl.2_RNA	p.L1548V	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4770	-		all_lung(180;1.92e-11)	1548			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4642C>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	7.109	0.575547	0.13623	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.52983	0.66;0.64;0.66	4.87	-0.0664	0.13764	.	0.979522	0.08357	N	0.958324	T	0.21103	0.0508	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.22730	-1.0208	10	0.13853	T	0.58	-0.378	2.8359	0.05515	0.1216:0.1709:0.465:0.2424	.	1542;1548	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	1548;1587;1570;1548	ENSP00000380897:L1548V;ENSP00000437849:L1587V;ENSP00000256552:L1570V	ENSP00000256552:L1570V	L	-	1	0	TRPM1	29081487	0.002000	0.14202	0.019000	0.16419	0.977000	0.68977	0.535000	0.23114	0.105000	0.17753	0.563000	0.77884	CTC		PASS	0.423	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		193	254	193	254	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41819250	41819250	+	Missense_Mutation	SNP	C	C	A	rs143236694		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr15:41819250C>A	ENST00000304330.4	-	14	1879	c.1763G>T	c.(1762-1764)cGg>cTg	p.R588L	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.R588L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	588						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R588L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCTATCAGCCGAGGGCACTC	0.562																																						uc001zod.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1762-1764)CGG>CTG		RNA polymerase II associated protein 1							64.0	64.0	64.0					15																	41819250		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819250C>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1763G>T	15.37:g.41819250C>A	ENSP00000306123:p.Arg588Leu						p.R588L	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	14	1887	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	588					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1763G>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152076	0.78001	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	5.1	4.12	0.48240	.	0.061443	0.64402	D	0.000004	D	0.82282	0.5003	M	0.83953	2.67	0.58432	D	0.999998	D	0.58970	0.984	P	0.52554	0.702	D	0.86063	0.1533	10	0.87932	D	0	-13.2133	14.9825	0.71321	0.0:0.8568:0.1432:0.0	.	588	Q9BWH6	RPAP1_HUMAN	L	588	ENSP00000306123:R588L	ENSP00000306123:R588L	R	-	2	0	RPAP1	39606542	1.000000	0.71417	0.979000	0.43373	0.884000	0.51177	5.681000	0.68175	2.530000	0.85305	0.563000	0.77884	CGG		PASS	0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		77	76	77	76	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42150811	42150811	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr15:42150811C>T	ENST00000320955.6	-	49	8442	c.8215G>A	c.(8215-8217)Gag>Aag	p.E2739K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2739					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.E2739K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGCTGCAGCTCCTGCTGTTGG	0.612																																						uc001zos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(8110-8112)GAG>AAG		spectrin, beta, non-erythrocytic 5							22.0	24.0	24.0					15																	42150811		2166	4271	6437	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42150811C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8215G>A	15.37:g.42150811C>T	ENSP00000317790:p.Glu2739Lys						p.E2704K	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	49	8443	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2739			Spectrin 24.			Missense_Mutation	SNP	ENST00000320955.6	37	c.8110G>A		.	.	.	.	.	.	.	.	.	.	.	13.44	2.237335	0.39498	.	.	ENSG00000137877	ENST00000320955	T	0.49432	0.78	4.8	1.27	0.21489	.	1.256600	0.06087	N	0.662980	T	0.29914	0.0748	N	0.15975	0.35	0.09310	N	1	B	0.30146	0.27	B	0.31812	0.136	T	0.16719	-1.0393	10	0.08599	T	0.76	.	9.6955	0.40154	0.0:0.7764:0.0:0.2236	.	2739	Q9NRC6	SPTN5_HUMAN	K	2739	ENSP00000317790:E2739K	ENSP00000317790:E2739K	E	-	1	0	SPTBN5	39938103	0.972000	0.33761	0.446000	0.26920	0.264000	0.26372	0.779000	0.26746	0.313000	0.23062	0.467000	0.42956	GAG		PASS	0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		19	12	19	12	---	---	---	---
BLM	641	broad.mit.edu	37	15	91293049	91293049	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr15:91293049A>T	ENST00000355112.3	+	3	669	c.551A>T	c.(550-552)cAg>cTg	p.Q184L	BLM_ENST00000560509.1_Missense_Mutation_p.Q184L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	184					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.Q184L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGCACTGCTCAGAAATCAAAA	0.378			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2			yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(550-552)CAG>CTG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							61.0	60.0	61.0					15																	91293049		2198	4298	6496	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91293049A>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.551A>T	15.37:g.91293049A>T	ENSP00000347232:p.Gln184Leu					BLM_uc010uqh.1_Missense_Mutation_p.Q184L|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Missense_Mutation_p.Q184L	p.Q184L	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		3	648	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		184					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.551A>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465186	0.84425	.	.	ENSG00000197299	ENST00000355112	T	0.49139	0.79	6.01	4.83	0.62350	.	0.297078	0.32055	N	0.006653	T	0.38401	0.1039	L	0.34521	1.04	0.35193	D	0.773517	P;P	0.37781	0.608;0.608	B;B	0.39660	0.306;0.244	T	0.55724	-0.8096	10	0.72032	D	0.01	-12.2321	9.6329	0.39789	0.8246:0.1754:0.0:0.0	.	184;184	B2RAN0;P54132	.;BLM_HUMAN	L	184	ENSP00000347232:Q184L	ENSP00000347232:Q184L	Q	+	2	0	BLM	89094053	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.250000	0.43178	2.307000	0.77673	0.528000	0.53228	CAG		PASS	0.378	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			54	75	54	75	---	---	---	---
CASKIN1	57524	broad.mit.edu	37	16	2234823	2234823	+	Nonsense_Mutation	SNP	A	A	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr16:2234823A>C	ENST00000343516.6	-	14	1463	c.1371T>G	c.(1369-1371)taT>taG	p.Y457*	CASKIN1_ENST00000564289.1_5'UTR	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	457	CASK-binding. {ECO:0000250}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.Y286*(1)|p.Y457*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCTGCTCCCCATAGACCTGCC	0.682																																						uc010bsg.1																			2	Substitution - Nonsense(2)		lung(2)	skin(2)	2						c.(1369-1371)TAT>TAG		CASK interacting protein 1							19.0	25.0	23.0					16																	2234823		2022	4180	6202	SO:0001587	stop_gained	57524				signal transduction	cytoplasm		g.chr16:2234823A>C	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1371T>G	16.37:g.2234823A>C	ENSP00000345436:p.Tyr457*						p.Y457*	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			14	1403	-			457			CASK-binding (By similarity).		Q9P2P0	Nonsense_Mutation	SNP	ENST00000343516.6	37	c.1371T>G	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389548	0.61956	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	.	.	.	4.92	-5.57	0.02521	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6096	4.6025	0.12361	0.3424:0.1043:0.441:0.1122	.	.	.	.	X	457;286	.	ENSP00000345436:Y457X	Y	-	3	2	CASKIN1	2174824	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-2.292000	0.01146	-1.112000	0.02984	-0.379000	0.06801	TAT		PASS	0.682	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		10	15	10	15	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20944647	20944647	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr16:20944647C>T	ENST00000261383.3	-	62	12179	c.12180G>A	c.(12178-12180)ctG>ctA	p.L4060L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4060					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.L4060L(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTCCTGATGCAGAAACATTG	0.517																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(12178-12180)CTG>CTA		dynein, axonemal, heavy chain 3							169.0	165.0	167.0					16																	20944647		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20944647C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.12180G>A	16.37:g.20944647C>T						DNAH3_uc010vbd.1_Silent_p.L1495L	p.L4060L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	62	12180	-			4060					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.12180G>A	CCDS10594.1																																																																																				PASS	0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		33	206	33	206	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079455	23079455	+	Missense_Mutation	SNP	G	G	A	rs150676134		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr16:23079455G>A	ENST00000219689.7	-	16	3970	c.3971C>T	c.(3970-3972)cCg>cTg	p.P1324L	USP31_ENST00000567975.1_Missense_Mutation_p.P617L	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.P1324L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTGCCACCCGGAGACGAGGG	0.502																																						uc002dll.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(3970-3972)CCG>CTG		ubiquitin specific peptidase 31		G	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	87.0	87.0	87.0		3971	5.8	1.0	16	dbSNP_134	87	0,8600		0,0,4300	no	missense	USP31	NM_020718.3	98	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	1324/1353	23079455	1,12993	2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079455G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3971C>T	16.37:g.23079455G>A	ENSP00000219689:p.Pro1324Leu					USP31_uc002dlk.2_Missense_Mutation_p.P596L|USP31_uc010vca.1_Missense_Mutation_p.P627L|USP31_uc010bxm.2_Missense_Mutation_p.P612L	p.P1324L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3971	-			1324					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3971C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802654	0.50315	2.28E-4	0.0	ENSG00000103404	ENST00000219689	T	0.09445	2.98	5.8	5.8	0.92144	.	0.318924	0.29438	N	0.012158	T	0.14614	0.0353	L	0.60455	1.87	0.58432	D	0.999992	B;D	0.57571	0.225;0.98	B;B	0.38880	0.019;0.284	T	0.01496	-1.1340	10	0.66056	D	0.02	-17.1987	19.0512	0.93046	0.0:0.0:1.0:0.0	.	1324;617	Q70CQ4;B3KS48	UBP31_HUMAN;.	L	1324	ENSP00000219689:P1324L	ENSP00000219689:P1324L	P	-	2	0	USP31	22986956	1.000000	0.71417	0.978000	0.43139	0.365000	0.29674	5.800000	0.69108	2.735000	0.93741	0.655000	0.94253	CCG		PASS	0.502	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		32	156	32	156	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079989	23079989	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr16:23079989T>C	ENST00000219689.7	-	16	3436	c.3437A>G	c.(3436-3438)aAg>aGg	p.K1146R	USP31_ENST00000567975.1_Missense_Mutation_p.K439R	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.K1146R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGTCCTGCTCTTCCCAGGTGG	0.587																																						uc002dll.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(3436-3438)AAG>AGG		ubiquitin specific peptidase 31							63.0	66.0	65.0					16																	23079989		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079989T>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3437A>G	16.37:g.23079989T>C	ENSP00000219689:p.Lys1146Arg					USP31_uc002dlk.2_Missense_Mutation_p.K418R|USP31_uc010vca.1_Missense_Mutation_p.K449R|USP31_uc010bxm.2_Missense_Mutation_p.K434R	p.K1146R	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3437	-			1146			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3437A>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157291	0.38119	.	.	ENSG00000103404	ENST00000219689	T	0.06294	3.32	5.8	4.71	0.59529	.	1.458410	0.03999	N	0.296145	T	0.07818	0.0196	L	0.32530	0.975	0.44201	D	0.997027	B;B	0.17038	0.004;0.02	B;B	0.16722	0.003;0.016	T	0.27331	-1.0077	10	0.18710	T	0.47	-18.8861	10.7456	0.46179	0.0:0.0734:0.0:0.9266	.	1146;439	Q70CQ4;B3KS48	UBP31_HUMAN;.	R	1146	ENSP00000219689:K1146R	ENSP00000219689:K1146R	K	-	2	0	USP31	22987490	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.024000	0.49674	1.037000	0.40024	0.533000	0.62120	AAG		PASS	0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		36	56	36	56	---	---	---	---
ALOX15	246	broad.mit.edu	37	17	4542424	4542424	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:4542424C>T	ENST00000570836.1	-	4	437	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H|ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	114	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R114H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCCCACAGTGCGGCCTAGAAG	0.607																																						uc002fyh.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(340-342)CGC>CAC		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						132.0	127.0	129.0					17																	4542424		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4542424C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.341G>A	17.37:g.4542424C>T	ENSP00000458832:p.Arg114His					ALOX15_uc010vsd.1_Missense_Mutation_p.R75H|ALOX15_uc010vse.1_Missense_Mutation_p.R136H	p.R114H	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	3	355	-			114			PLAT.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.341G>A	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898831	0.52227	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.06849	3.25;3.25	4.22	4.22	0.49857	Lipoxygenase, C-terminal (2);Lipoxygenase, LH2 (1);	0.451250	0.21528	N	0.073084	T	0.23210	0.0561	M	0.69823	2.125	0.09310	N	1	D;D;D	0.76494	0.999;0.993;0.993	P;P;P	0.61397	0.888;0.587;0.587	T	0.01753	-1.1281	10	0.59425	D	0.04	-31.5468	12.2554	0.54621	0.0:1.0:0.0:0.0	.	136;75;114	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	H	114;136	ENSP00000293761:R114H;ENSP00000439855:R136H	ENSP00000293761:R114H	R	-	2	0	ALOX15	4489173	0.004000	0.15560	0.236000	0.24074	0.053000	0.15095	0.842000	0.27627	2.354000	0.79902	0.655000	0.94253	CGC		PASS	0.607	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			5	250	5	250	---	---	---	---
PIK3R6	146850	broad.mit.edu	37	17	8732154	8732154	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:8732154G>A	ENST00000311434.9	-	11	1282	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	348					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.T429M(1)									ATCAGCCCCCGTGGGAAGGTC	0.667																																						uc002glq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)ACG>ATG		phosphoinositide-3-kinase, regulatory subunit 6							20.0	22.0	21.0					17																	8732154		1980	4139	6119	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8732154G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1043C>T	17.37:g.8732154G>A	ENSP00000475670:p.Thr348Met					PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.T348M	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			11	1283	-			348					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1043C>T																																																																																					PASS	0.667	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		10	15	10	15	---	---	---	---
CDRT15	146822	broad.mit.edu	37	17	14139248	14139248	+	Silent	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:14139248G>C	ENST00000420162.2	-	3	507	c.492C>G	c.(490-492)ctC>ctG	p.L164L	CDRT15_ENST00000431716.2_Silent_p.L98L	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	164								p.L164L(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCCATGCCTGGAGGAGGAGGT	0.612																																						uc010vvu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(490-492)CTC>CTG		CMT1A duplicated region transcript 15							14.0	15.0	15.0					17																	14139248		2192	4278	6470	SO:0001819	synonymous_variant	146822							g.chr17:14139248G>C	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.492C>G	17.37:g.14139248G>C						CDRT15_uc010coq.2_RNA	p.L164L	NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	3	492	-			164					B2RUU5	Silent	SNP	ENST00000420162.2	37	c.492C>G	CCDS32569.1																																																																																				PASS	0.612	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530		3	21	3	21	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64738758	64738758	+	Missense_Mutation	SNP	C	C	G	rs200595684	byFrequency	TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:64738758C>G	ENST00000413366.3	+	13	1430	c.1404C>G	c.(1402-1404)aaC>aaG	p.N468K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.N468K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AGTTAGATAACGTCATGTTGG	0.448																																						uc002jfp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(1402-1404)AAC>AAG		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						187.0	170.0	176.0					17																	64738758		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64738758C>G		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1404C>G	17.37:g.64738758C>G	ENSP00000408695:p.Asn468Lys					PRKCA_uc002jfo.1_Missense_Mutation_p.N339K	p.N468K	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		13	1448	+			468			Protein kinase.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.1404C>G	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470476	0.63625	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.91996	-2.95	5.6	-3.69	0.04450	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97043	0.9034	H	0.98594	4.275	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95477	0.8557	10	0.87932	D	0	.	13.4537	0.61187	0.0:0.4668:0.0:0.5332	.	468;379	P17252;Q59FI5	KPCA_HUMAN;.	K	468;375	ENSP00000408695:N468K	ENSP00000284384:N375K	N	+	3	2	PRKCA	62169220	0.220000	0.23631	0.835000	0.33067	0.973000	0.67179	-0.428000	0.06991	-1.173000	0.02758	-1.099000	0.02127	AAC		PASS	0.448	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			44	268	44	268	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65908159	65908159	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:65908159A>G	ENST00000321892.4	+	13	4598	c.4537A>G	c.(4537-4539)Aaa>Gaa	p.K1513E	BPTF_ENST00000306378.6_Missense_Mutation_p.K1387E|BPTF_ENST00000335221.5_Missense_Mutation_p.K1513E|BPTF_ENST00000424123.3_Missense_Mutation_p.K1374E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1513					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K1387E(1)|p.K1513E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACCACTGACAAAAAGAATAA	0.303																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(4159-4161)AAA>GAA		bromodomain PHD finger transcription factor							34.0	36.0	35.0					17																	65908159		2199	4299	6498	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908159A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4537A>G	17.37:g.65908159A>G	ENSP00000315454:p.Lys1513Glu					BPTF_uc002jge.2_Missense_Mutation_p.K1513E	p.K1387E	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	4220	+	all_cancers(12;6e-11)		1513					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4159A>G		.	.	.	.	.	.	.	.	.	.	A	8.216	0.801344	0.16397	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.69175	-0.35;-0.38;-0.36	5.24	5.24	0.73138	.	.	.	.	.	T	0.61800	0.2376	L	0.29908	0.895	0.43149	D	0.994912	P;P	0.49559	0.868;0.925	B;P	0.47162	0.359;0.54	T	0.65080	-0.6255	9	0.46703	T	0.11	-5.6818	15.1483	0.72677	1.0:0.0:0.0:0.0	.	1387;1513	Q12830-2;Q12830-4	.;.	E	1387;1513;1513	ENSP00000307208:K1387E;ENSP00000334351:K1513E;ENSP00000315454:K1513E	ENSP00000307208:K1387E	K	+	1	0	BPTF	63338621	1.000000	0.71417	0.973000	0.42090	0.458000	0.32498	7.379000	0.79691	1.984000	0.57885	0.528000	0.53228	AAA		PASS	0.303	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		43	78	43	78	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67039676	67039676	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:67039676T>C	ENST00000340001.4	-	6	965	c.754A>G	c.(754-756)Att>Gtt	p.I252V	ABCA9_ENST00000370732.2_Missense_Mutation_p.I252V|ABCA9_ENST00000453985.2_Missense_Mutation_p.I252V|ABCA9_ENST00000495634.1_Missense_Mutation_p.I252V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	252					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I252V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AATGACGTAATGTATTGTCTT	0.328																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(754-756)ATT>GTT		ATP-binding cassette, sub-family A, member 9							80.0	78.0	79.0					17																	67039676		2202	4300	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67039676T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.754A>G	17.37:g.67039676T>C	ENSP00000342216:p.Ile252Val					ABCA9_uc010dez.2_Missense_Mutation_p.I252V|ABCA9_uc002jhv.2_Missense_Mutation_p.I252V	p.I252V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			6	897	-	Breast(10;1.47e-12)		252					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.754A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	5.608	0.296919	0.10622	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87650	-2.28;-2.28	4.73	2.48	0.30137	.	0.632602	0.13850	N	0.358409	T	0.78227	0.4250	L	0.38175	1.15	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.15870	0.004;0.014	T	0.64588	-0.6372	10	0.36615	T	0.2	.	4.9786	0.14153	0.0:0.0974:0.3754:0.5272	.	252;252	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	252;235;252;247	ENSP00000342216:I252V;ENSP00000359767:I252V	ENSP00000342216:I252V	I	-	1	0	ABCA9	64551271	0.002000	0.14202	0.012000	0.15200	0.836000	0.47400	0.159000	0.16442	0.908000	0.36671	0.491000	0.48974	ATT		PASS	0.328	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		5	237	5	237	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78363638	78363638	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:78363638G>C	ENST00000582970.1	+	66	15349	c.15206G>C	c.(15205-15207)aGa>aCa	p.R5069T	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5118T|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.R3142T|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5069					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R3142T(1)|p.R5118T(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCTTAAACAGATGCCAGTTA	0.532																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(9424-9426)AGA>ACA		ring finger protein 213							105.0	96.0	99.0					17																	78363638		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78363638G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15206G>C	17.37:g.78363638G>C	ENSP00000464087:p.Arg5069Thr					uc002jyi.1_Intron|RNF213_uc010dhx.1_Missense_Mutation_p.R86T	p.R3142T	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		41	9648	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.9425G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	7.868	0.727457	0.15439	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22945	1.93	5.38	4.41	0.53225	.	0.275897	0.34386	N	0.004010	T	0.26268	0.0641	M	0.81802	2.56	0.09310	N	1	P;P	0.42203	0.773;0.536	B;B	0.34418	0.182;0.115	T	0.23619	-1.0183	10	0.23891	T	0.37	.	10.1518	0.42799	0.1516:0.0:0.8484:0.0	.	5069;3142	D6RI12;Q63HN8	.;RN213_HUMAN	T	5069;5118;3142;419	ENSP00000338218:R3142T	ENSP00000338218:R3142T	R	+	2	0	RNF213	75978233	0.098000	0.21812	0.002000	0.10522	0.220000	0.24768	2.557000	0.45871	1.267000	0.44247	0.655000	0.94253	AGA		PASS	0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		128	42	128	42	---	---	---	---
CSNK1D	1453	broad.mit.edu	37	17	80211076	80211076	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:80211076C>A	ENST00000314028.6	-	4	730	c.381G>T	c.(379-381)cgG>cgT	p.R127R	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000392334.2_Silent_p.R127R|CSNK1D_ENST00000398519.5_Silent_p.R127R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R127R(3)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GCTTCACATCCCGGTGGATGA	0.567																																						uc002kej.2																			3	Substitution - coding silent(3)		lung(3)	breast(2)	2						c.(379-381)CGG>CGT		casein kinase 1, delta isoform 1							269.0	229.0	243.0					17																	80211076		2203	4300	6503	SO:0001819	synonymous_variant	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80211076C>A		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.381G>T	17.37:g.80211076C>A						SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Silent_p.R127R|CSNK1D_uc002kei.2_Silent_p.R127R|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_5'UTR|CSNK1D_uc010dim.1_5'Flank	p.R127R	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		4	697	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		127			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	37	c.381G>T	CCDS11805.1																																																																																				PASS	0.567	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		73	398	73	398	---	---	---	---
CD226	10666	broad.mit.edu	37	18	67563247	67563247	+	Silent	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr18:67563247G>A	ENST00000280200.4	-	4	685	c.417C>T	c.(415-417)caC>caT	p.H139H	CD226_ENST00000577287.1_5'UTR|CD226_ENST00000581982.1_5'UTR|CD226_ENST00000582621.1_Silent_p.H139H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	139	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.H139H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CCGAAACAATGTGGCTATTTG	0.468																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)CAC>CAT		CD226 molecule precursor							84.0	69.0	74.0					18																	67563247		2203	4300	6503	SO:0001819	synonymous_variant	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563247G>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.417C>T	18.37:g.67563247G>A						CD226_uc002lkm.3_Silent_p.H139H	p.H139H	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	864	-		Esophageal squamous(42;0.129)	139			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Silent	SNP	ENST00000280200.4	37	c.417C>T	CCDS11997.1																																																																																				PASS	0.468	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		13	86	13	86	---	---	---	---
ALKBH7	84266	broad.mit.edu	37	19	6374904	6374904	+	Silent	SNP	C	C	A	rs147538989	byFrequency	TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:6374904C>A	ENST00000245812.3	+	4	974	c.586C>A	c.(586-588)Cgg>Agg	p.R196R	ALKBH7_ENST00000599849.1_Silent_p.R135R|ALKBH7_ENST00000596657.1_Silent_p.R54R	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	196					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R196R(1)		breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCCCCGGGGCCGGCGCATCTC	0.637																																						uc002meo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(586-588)CGG>AGG		spermatogenesis associated 11 precursor							49.0	52.0	51.0					19																	6374904		2203	4300	6503	SO:0001819	synonymous_variant	84266					extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:6374904C>A	AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.586C>A	19.37:g.6374904C>A							p.R196R	NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN			4	974	+			196					B2R4U9|Q53FF3	Silent	SNP	ENST00000245812.3	37	c.586C>A	CCDS12163.1																																																																																				PASS	0.637	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306		33	63	33	63	---	---	---	---
C3	718	broad.mit.edu	37	19	6718267	6718267	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:6718267C>G	ENST00000245907.6	-	3	516	c.424G>C	c.(424-426)Ggc>Cgc	p.G142R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	142					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.G142R(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCTGTGGAGCCAGGGGTGTAG	0.647																																						uc002mfm.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(424-426)GGC>CGC		complement component 3 precursor							53.0	45.0	47.0					19																	6718267		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718267C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.424G>C	19.37:g.6718267C>G	ENSP00000245907:p.Gly142Arg						p.G142R	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	486	-			142					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.424G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812648	0.70912	.	.	ENSG00000125730	ENST00000245907	D	0.82433	-1.61	4.91	3.85	0.44370	Alpha-2-macroglobulin, N-terminal (1);	0.312448	0.35349	N	0.003275	D	0.91348	0.7271	M	0.89030	3	0.34869	D	0.743439	D	0.89917	1.0	D	0.83275	0.996	D	0.94253	0.7495	10	0.62326	D	0.03	.	11.4167	0.49956	0.0:0.9048:0.0:0.0952	.	142	P01024	CO3_HUMAN	R	142	ENSP00000245907:G142R	ENSP00000245907:G142R	G	-	1	0	C3	6669267	0.058000	0.20735	0.736000	0.30914	0.861000	0.49209	1.153000	0.31676	1.015000	0.39444	0.454000	0.30748	GGC		PASS	0.647	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		20	14	20	14	---	---	---	---
RLN3	117579	broad.mit.edu	37	19	14139151	14139151	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:14139151C>T	ENST00000431365.2	+	1	192	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RLN3_ENST00000585987.1_Silent_p.F45F|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	45						extracellular region (GO:0005576)		p.F45F(1)		endometrium(1)|lung(4)	5						CAGTCATCTTCACCTGCGGGG	0.647																																						uc002mxw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)TTC>TTT		relaxin 3 preproprotein							52.0	56.0	55.0					19																	14139151		2203	4300	6503	SO:0001819	synonymous_variant	117579					extracellular region	hormone activity	g.chr19:14139151C>T	AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"""Endogenous ligands"""	17135	protein-coding gene	gene with protein product	"""prorelaxin H3"""	606855	"""relaxin 3 (H3)"""				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.135C>T	19.37:g.14139151C>T						RLN3_uc010dzj.1_Silent_p.F45F	p.F45F	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN			1	135	+			45					Q6UXW5	Silent	SNP	ENST00000431365.2	37	c.135C>T	CCDS12302.1																																																																																				PASS	0.647	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			76	39	76	39	---	---	---	---
CCDC105	126402	broad.mit.edu	37	19	15132725	15132725	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:15132725C>A	ENST00000292574.3	+	6	1327	c.1245C>A	c.(1243-1245)ctC>ctA	p.L415L		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	415						extracellular vesicular exosome (GO:0070062)		p.L415L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGCGCGCCTCGCACAGGTAA	0.617																																						uc002nae.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1243-1245)CTC>CTA		coiled-coil domain containing 105							44.0	48.0	47.0					19																	15132725		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132725C>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1245C>A	19.37:g.15132725C>A							p.L415L	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			6	1344	+			415					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1245C>A	CCDS12322.1																																																																																				PASS	0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		3	38	3	38	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21909693	21909693	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:21909693G>A	ENST00000358296.6	-	5	1619	c.1421C>T	c.(1420-1422)gCa>gTa	p.A474V	ZNF100_ENST00000305570.6_Missense_Mutation_p.A410V	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	474					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.A474V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CATCTTATGTGCAGTTAGTTG	0.403																																						uc002nqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)GCA>GTA		zinc finger protein 100							63.0	68.0	66.0					19																	21909693		2197	4297	6494	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909693G>A	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1421C>T	19.37:g.21909693G>A	ENSP00000351042:p.Ala474Val					ZNF100_uc002nqh.2_Missense_Mutation_p.A410V	p.A474V	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1620	-			474			C2H2-type 11.		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.1421C>T	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.617335	0.00828	.	.	ENSG00000197020	ENST00000358296	T	0.07800	3.16	0.867	0.867	0.19085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.02765	-0.5	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.09377	0.004;0.003	T	0.42699	-0.9436	9	0.38643	T	0.18	.	1.8155	0.03099	0.2474:0.0:0.4307:0.3219	.	474;528	Q8IYN0;Q4G131	ZN100_HUMAN;.	V	474	ENSP00000351042:A474V	ENSP00000351042:A474V	A	-	2	0	ZNF100	21701533	0.000000	0.05858	0.390000	0.26220	0.391000	0.30476	-11.202000	0.00004	0.284000	0.22305	0.289000	0.19496	GCA		PASS	0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		33	117	33	117	---	---	---	---
SLC7A9	11136	broad.mit.edu	37	19	33355535	33355535	+	Splice_Site	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:33355535C>T	ENST00000023064.4	-	3	426	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	SLC7A9_ENST00000590341.1_Splice_Site_p.G79S|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Splice_Site_p.G79S	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	79					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.G79S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTCTCTTTACCCAGCGTCGCG	0.632																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(235-237)GGT>AGT		solute carrier family 7, member 9	L-Cystine(DB00138)						50.0	51.0	51.0					19																	33355535		2203	4300	6503	SO:0001630	splice_region_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355535C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.235+1G>A	19.37:g.33355535C>T						SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Missense_Mutation_p.G79S|SLC7A9_uc002ntw.3_Intron	p.G79S	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			3	352	-	Esophageal squamous(110;0.137)		79			Helical; (Potential).		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.235G>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319825	0.81469	.	.	ENSG00000021488	ENST00000023064	D	0.90133	-2.62	5.13	5.13	0.70059	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	M	0.68317	2.08	0.80722	D	1	P	0.43519	0.809	P	0.50162	0.633	D	0.91904	0.5534	9	.	.	.	.	18.9574	0.92664	0.0:1.0:0.0:0.0	.	79	P82251	BAT1_HUMAN	S	79	ENSP00000023064:G79S	.	G	-	1	0	SLC7A9	38047375	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	7.818000	0.86416	2.565000	0.86533	0.462000	0.41574	GGT		PASS	0.632	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		Missense_Mutation	9	51	9	51	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38160634	38160634	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:38160634G>A	ENST00000590008.1	-	5	1268	c.416C>T	c.(415-417)aCa>aTa	p.T139I	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.T139I			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	139					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.T139I(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCTCATCAGTGTGAATTTTCC	0.383																																						uc002ogy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)ACA>ATA		zinc finger protein 781							132.0	132.0	132.0					19																	38160634		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160634G>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.416C>T	19.37:g.38160634G>A	ENSP00000466370:p.Thr139Ile					ZNF781_uc002ogz.2_Missense_Mutation_p.T134I	p.T139I	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	1158	-			139					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.416C>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048170	0.19827	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.04083	3.71	1.85	0.734	0.18294	.	.	.	.	.	T	0.01976	0.0062	N	0.02158	-0.66	0.24320	N	0.995042	P	0.49185	0.92	B	0.40901	0.343	T	0.45542	-0.9254	9	0.87932	D	0	-0.2303	5.5817	0.17252	0.3279:0.0:0.6721:0.0	.	139	Q8N8C0	ZN781_HUMAN	I	139	ENSP00000351391:T139I	ENSP00000351391:T139I	T	-	2	0	ZNF781	42852474	0.818000	0.29161	0.159000	0.22649	0.166000	0.22503	0.322000	0.19576	0.095000	0.17434	0.411000	0.27672	ACA		PASS	0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		14	278	14	278	---	---	---	---
SPINT2	10653	broad.mit.edu	37	19	38778547	38778547	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:38778547G>T	ENST00000301244.7	+	3	744	c.309G>T	c.(307-309)agG>agT	p.R103S	SPINT2_ENST00000454580.3_Missense_Mutation_p.R46S|SPINT2_ENST00000587090.1_Missense_Mutation_p.R53S|CTB-102L5.4_ENST00000591889.1_5'Flank	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	103					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R103S(1)		large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACCAGCAGGAATGCAGCGG	0.527																																						uc002ohr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)AGG>AGT		serine protease inhibitor, Kunitz type, 2							136.0	126.0	129.0					19																	38778547		2203	4300	6503	SO:0001583	missense	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38778547G>T	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.309G>T	19.37:g.38778547G>T	ENSP00000301244:p.Arg103Ser					SPINT2_uc002ohs.1_Missense_Mutation_p.R46S	p.R103S	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	640	+	all_cancers(60;6.83e-07)		103			Extracellular (Potential).		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	c.309G>T	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739366	0.49045	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.61158	0.47;0.13	4.57	-0.345	0.12624	.	0.335731	0.24587	N	0.037241	T	0.29716	0.0742	N	0.19112	0.55	0.09310	N	1	B;B	0.22276	0.067;0.024	B;B	0.13407	0.009;0.005	T	0.12293	-1.0553	10	0.10111	T	0.7	.	3.7528	0.08573	0.1886:0.0:0.4776:0.3338	.	46;103	B4DLU1;O43291	.;SPIT2_HUMAN	S	103;46	ENSP00000301244:R103S;ENSP00000389788:R46S	ENSP00000301244:R103S	R	+	3	2	SPINT2	43470387	0.022000	0.18835	0.006000	0.13384	0.770000	0.43624	0.336000	0.19823	-0.018000	0.14079	0.591000	0.81541	AGG		PASS	0.527	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			50	199	50	199	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41074150	41074150	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:41074150C>T	ENST00000352632.3	+	31	7004	c.6918C>T	c.(6916-6918)agC>agT	p.S2306S	SPTBN4_ENST00000392025.1_Silent_p.S1049S|SPTBN4_ENST00000598249.1_Silent_p.S2306S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2306					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S2306S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGTCCAGCGAACAGGAGA	0.657																																						uc002ony.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(6916-6918)AGC>AGT		spectrin, beta, non-erythrocytic 4 isoform							13.0	14.0	14.0					19																	41074150		2193	4292	6485	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41074150C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6918C>T	19.37:g.41074150C>T						SPTBN4_uc002onz.2_Silent_p.S2306S|SPTBN4_uc010egx.2_Silent_p.S1049S	p.S2306S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		31	7004	+			2306					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.6918C>T	CCDS12559.1																																																																																				PASS	0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	9	4	9	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44515581	44515581	+	Missense_Mutation	SNP	G	G	C	rs369515636		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:44515581G>C	ENST00000429154.2	+	5	1618	c.1390G>C	c.(1390-1392)Gat>Cat	p.D464H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	464					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.D464H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTTGAATCTGGATATAATTTT	0.333																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)GAT>CAT		zinc finger protein 230		G	HIS/ASP	0,4386		0,0,2193	25.0	28.0	27.0		1390	0.6	0.0	19		27	1,8577		0,1,4288	no	missense	ZNF230	NM_006300.3	81	0,1,6481	CC,CG,GG		0.0117,0.0,0.0077	probably-damaging	464/475	44515581	1,12963	2193	4289	6482	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515581G>C	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1390G>C	19.37:g.44515581G>C	ENSP00000409318:p.Asp464His						p.D464H	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1641	+		Prostate(69;0.0352)	464					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1390G>C	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393271	0.42410	0.0	1.17E-4	ENSG00000159882	ENST00000429154	T	0.05717	3.4	0.616	0.616	0.17613	.	.	.	.	.	T	0.08403	0.0209	N	0.11427	0.14	0.09310	N	0.999994	D	0.89917	1.0	D	0.75020	0.985	T	0.42916	-0.9423	8	0.30854	T	0.27	.	.	.	.	.	464	Q9UIE0	ZN230_HUMAN	H	464	ENSP00000409318:D464H	ENSP00000409318:D464H	D	+	1	0	ZNF230	49207421	0.001000	0.12720	0.013000	0.15412	0.905000	0.53344	0.537000	0.23144	0.569000	0.29329	0.205000	0.17691	GAT		PASS	0.333	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			13	50	13	50	---	---	---	---
ZNF224	7767	broad.mit.edu	37	19	44605048	44605048	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:44605048T>C	ENST00000336976.6	+	4	364	c.110T>C	c.(109-111)aTg>aCg	p.M37T	AC084219.3_ENST00000591772.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M37T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CGAGATGTGATGCTGGAGAAC	0.542																																						uc002oyh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(109-111)ATG>ACG		zinc finger protein 224							212.0	191.0	198.0					19																	44605048		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44605048T>C	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.110T>C	19.37:g.44605048T>C	ENSP00000337368:p.Met37Thr						p.M37T	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN			4	412	+		Prostate(69;0.0435)	37			KRAB.		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.110T>C	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	t	12.16	1.854614	0.32791	.	.	ENSG00000186019	ENST00000336976;ENST00000269981	T	0.03152	4.03	3.06	3.06	0.35304	Krueppel-associated box (4);	.	.	.	.	T	0.19967	0.0480	M	0.89658	3.05	0.29038	N	0.885267	D	0.71674	0.998	D	0.79784	0.993	T	0.02385	-1.1167	9	0.54805	T	0.06	.	9.4534	0.38741	0.0:0.0:0.0:1.0	.	37	Q9NZL3	ZN224_HUMAN	T	37	ENSP00000337368:M37T	ENSP00000269981:M37T	M	+	2	0	ZNF224	49296888	1.000000	0.71417	0.998000	0.56505	0.172000	0.22775	3.202000	0.51067	1.378000	0.46305	0.477000	0.44152	ATG		PASS	0.542	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		5	237	5	237	---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46289601	46289602	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:46289601_46289602CC>AA	ENST00000270223.6	-	3	1197_1198	c.1152_1153GG>TT	c.(1150-1155)gaGGag>gaTTag	p.384_385EE>D*	DMWD_ENST00000377735.3_Nonsense_Mutation_p.384_385EE>D*|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	384								p.E384_E385>D*(1)|p.E385*(1)|p.E384D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTCGCCGCCTCCTCTGCCCTTG	0.713																																						uc002pdj.1																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)		0						c.(1153-1155)GAG>TAG|c.(1150-1152)GAG>GAT		dystrophia myotonica-containing WD repeat motif																																				SO:0001587	stop_gained	1762				meiosis			g.chr19:46289601C>A|g.chr19:46289602C>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1152_1153delinsAA	19.37:g.46289601_46289602delinsAA	ENSP00000270223:p.E384_E385delinsD*					DMWD_uc002pdk.1_Nonsense_Mutation_p.E385*|DMWD_uc010eko.1_Nonsense_Mutation_p.E70*|DMWD_uc002pdk.1_Missense_Mutation_p.E384D|DMWD_uc010eko.1_Missense_Mutation_p.E69D	p.E385*|p.E384D	NM_004943	NP_004934	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1199|1198	-		Ovarian(192;0.0308)|all_neural(266;0.112)	385|384						Nonsense_Mutation|Missense_Mutation	SNP	ENST00000270223.6	37	c.1153G>T|c.1152G>T	CCDS33054.1																																																																																				PASS	0.713	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		21	42|44	21	42	---	---	---	---
C19orf73	55150	broad.mit.edu	37	19	49622111	49622111	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr19:49622111C>G	ENST00000408991.2	-	1	286	c.169G>C	c.(169-171)Gtg>Ctg	p.V57L	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	57								p.V57L(2)		large_intestine(1)|lung(2)	3						GCAGGCCGCACTACTGTCTGC	0.716																																						uc002pmq.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(169-171)GTG>CTG		hypothetical protein LOC55150							20.0	24.0	23.0					19																	49622111		1932	4120	6052	SO:0001583	missense	55150							g.chr19:49622111C>G	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.169G>C	19.37:g.49622111C>G	ENSP00000386230:p.Val57Leu					PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	p.V57L	NM_018111	NP_060581	Q9NVV2	CS073_HUMAN			1	287	-			57					Q6NSX4	Missense_Mutation	SNP	ENST00000408991.2	37	c.169G>C	CCDS42589.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364554	0.24684	.	.	ENSG00000221916	ENST00000408991	T	0.53206	0.63	3.23	2.16	0.27623	.	.	.	.	.	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	P	0.44139	0.827	B	0.38327	0.271	T	0.07947	-1.0746	9	0.87932	D	0	.	6.7754	0.23617	0.0:0.8658:0.0:0.1342	.	57	Q9NVV2	CS073_HUMAN	L	57	ENSP00000386230:V57L	ENSP00000386230:V57L	V	-	1	0	C19orf73	54313923	0.002000	0.14202	0.021000	0.16686	0.931000	0.56810	1.374000	0.34283	0.922000	0.37019	0.561000	0.74099	GTG		PASS	0.716	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	NM_018111		5	21	5	21	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23666553	23666553	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr20:23666553T>A	ENST00000217423.3	-	3	474	c.404A>T	c.(403-405)aAt>aTt	p.N135I		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	135				N -> D (in Ref. 10; AA sequence). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.N135I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ACACCTGGAATTCACCAGGGA	0.567																																						uc002wto.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(403-405)AAT>ATT		cystatin S precursor							106.0	97.0	100.0					20																	23666553		2203	4300	6503	SO:0001583	missense	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23666553T>A		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.404A>T	20.37:g.23666553T>A	ENSP00000217423:p.Asn135Ile						p.N135I	NM_001899	NP_001890	P01036	CYTS_HUMAN			3	460	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		135	N -> D (in Ref. 10; AA sequence).				Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	c.404A>T	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	T	9.876	1.200202	0.22121	.	.	ENSG00000101441	ENST00000217423	T	0.14266	2.52	1.94	1.94	0.25998	Proteinase inhibitor I25, cystatin (1);	0.571288	0.18563	U	0.137563	T	0.15349	0.0370	M	0.62723	1.935	0.09310	N	1	P	0.36909	0.573	B	0.40009	0.316	T	0.11108	-1.0601	10	0.66056	D	0.02	.	5.8725	0.18810	0.0:0.0:0.0:1.0	.	135	P01036	CYTS_HUMAN	I	135	ENSP00000217423:N135I	ENSP00000217423:N135I	N	-	2	0	CST4	23614553	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.275000	0.18698	1.141000	0.42275	0.172000	0.16884	AAT		PASS	0.567	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		28	70	28	70	---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	44997542	44997542	+	Silent	SNP	A	A	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr20:44997542A>G	ENST00000290246.6	-	21	2144	c.1950T>C	c.(1948-1950)ccT>ccC	p.P650P	ELMO2_ENST00000352077.2_Silent_p.P648P|ELMO2_ENST00000445496.2_Silent_p.P467P|ELMO2_ENST00000439931.2_Silent_p.P662P|ELMO2_ENST00000372176.1_Silent_p.P562P|ELMO2_ENST00000396391.1_Silent_p.P650P|ELMO2_ENST00000454865.2_Silent_p.P382P	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	650	PH.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.P650P(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CATATTTATTAGGTGCGATGA	0.458																																						uc002xrt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1948-1950)CCT>CCC		engulfment and cell motility 2							163.0	157.0	159.0					20																	44997542		2203	4300	6503	SO:0001819	synonymous_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:44997542A>G	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1950T>C	20.37:g.44997542A>G						ELMO2_uc010zxq.1_Silent_p.P382P|ELMO2_uc002xrs.1_Silent_p.P397P|ELMO2_uc002xru.1_Silent_p.P650P|ELMO2_uc010zxr.1_Silent_p.P662P|ELMO2_uc010zxs.1_Silent_p.P467P	p.P650P	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			21	2160	-		Myeloproliferative disorder(115;0.0122)	650			PH.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	c.1950T>C	CCDS13398.1																																																																																				PASS	0.458	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		4	272	4	272	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45976616	45976616	+	Silent	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr20:45976616G>A	ENST00000311275.7	-	2	262	c.9C>T	c.(7-9)atC>atT	p.I3I	ZMYND8_ENST00000471951.2_Silent_p.I23I|ZMYND8_ENST00000360911.3_Silent_p.I23I|ZMYND8_ENST00000396281.4_Silent_p.I28I|ZMYND8_ENST00000262975.4_Silent_p.I3I|ZMYND8_ENST00000446994.2_Silent_p.I3I|ZMYND8_ENST00000540497.1_Silent_p.I23I|RP4-569M23.4_ENST00000609320.1_RNA|ZMYND8_ENST00000536340.1_Silent_p.I30I|ZMYND8_ENST00000352431.2_Silent_p.I23I|ZMYND8_ENST00000461685.1_Silent_p.I23I|ZMYND8_ENST00000458360.2_Silent_p.I23I|ZMYND8_ENST00000372023.3_Silent_p.I23I|ZMYND8_ENST00000355972.4_Silent_p.I3I	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	3					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.I23I(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCGAGTAGAGATATCCATGC	0.388																																						uc002xta.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(7-9)ATC>ATT		zinc finger, MYND-type containing 8 isoform b							169.0	160.0	163.0					20																	45976616		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45976616G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.9C>T	20.37:g.45976616G>A						ZMYND8_uc010ghr.1_Silent_p.I3I|ZMYND8_uc002xst.1_Silent_p.I3I|ZMYND8_uc002xsu.1_Silent_p.I3I|ZMYND8_uc002xsv.1_Silent_p.I3I|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Silent_p.I3I|ZMYND8_uc002xsz.1_Silent_p.I3I|ZMYND8_uc010zxy.1_Silent_p.I30I|ZMYND8_uc002xtb.1_Silent_p.I23I|ZMYND8_uc002xss.2_Silent_p.I28I|ZMYND8_uc010zxz.1_Silent_p.I23I|ZMYND8_uc002xtc.1_Silent_p.I23I|ZMYND8_uc002xtd.1_Silent_p.I23I|ZMYND8_uc002xte.1_Silent_p.I3I|ZMYND8_uc010zya.1_Silent_p.I3I|ZMYND8_uc002xtf.1_Silent_p.I23I|ZMYND8_uc010ghs.1_Silent_p.I22I|ZMYND8_uc002xth.2_Silent_p.I23I	p.I3I	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		2	263	-			3					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.9C>T																																																																																					PASS	0.388	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		35	198	35	198	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	rs143288140		TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr20:58318189G>A	ENST00000371015.1	+	2	613	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PHACTR3_ENST00000395639.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R46H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R8H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R8H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	49						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R49H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.001		0.0	False		,,,				2504	0.0					uc002yau.2																			3	Substitution - Missense(3)	p.R49H(1)	ovary(1)|lung(1)|large_intestine(1)	ovary(2)|pancreas(1)	3						c.(145-147)CGT>CAT		phosphatase and actin regulator 3 isoform 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	86.0	95.0	91.0		137,23,146,23,23	4.4	0.1	20	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	46/557,8/519,49/560,8/519,8/449	58318189	2,13004	2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318189G>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.146G>A	20.37:g.58318189G>A	ENSP00000360054:p.Arg49His					PHACTR3_uc002yat.2_Missense_Mutation_p.R46H|PHACTR3_uc010zzw.1_Missense_Mutation_p.R8H|PHACTR3_uc002yav.2_Missense_Mutation_p.R8H|PHACTR3_uc002yaw.2_Missense_Mutation_p.R8H|PHACTR3_uc002yax.2_Missense_Mutation_p.R8H	p.R49H	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	613	+	all_lung(29;0.00344)		49					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.146G>A	CCDS13480.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.84	2.357583	0.41801	0.0	2.33E-4	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.45668	1.58;1.68;0.89;1.27;1.27;1.27;0.89	4.4	4.4	0.53042	.	0.105543	0.64402	D	0.000003	T	0.31857	0.0810	L	0.43152	1.355	0.54753	D	0.999982	B;P;P	0.46395	0.026;0.53;0.877	B;B;B	0.32022	0.016;0.085;0.139	T	0.32348	-0.9910	10	0.48119	T	0.1	-14.0518	15.9499	0.79827	0.0:0.0:1.0:0.0	.	8;49;46	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	46;49;8;8;8;8;8	ENSP00000353002:R46H;ENSP00000360054:R49H;ENSP00000379001:R8H;ENSP00000442483:R8H;ENSP00000347866:R8H;ENSP00000378998:R8H;ENSP00000354555:R8H	ENSP00000347866:R8H	R	+	2	0	PHACTR3	57751584	1.000000	0.71417	0.077000	0.20336	0.558000	0.35554	4.878000	0.63093	1.988000	0.58038	0.455000	0.32223	CGT		PASS	0.567	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		70	144	70	144	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45833791	45833791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr21:45833791G>T	ENST00000397928.1	+	20	3425	c.2980G>T	c.(2980-2982)Gag>Tag	p.E994*	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.E974*|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.E994*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.E994*	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	994					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.E994*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTTCAACCCGGAGCACTGCAG	0.637																																						uc002zet.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2980-2982)GAG>TAG		transient receptor potential cation channel,							160.0	168.0	165.0					21																	45833791		2203	4300	6503	SO:0001587	stop_gained	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833791G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2980G>T	21.37:g.45833791G>T	ENSP00000381023:p.Glu994*					TRPM2_uc002zeu.1_Nonsense_Mutation_p.E994*|TRPM2_uc002zew.1_Nonsense_Mutation_p.E994*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.E994*|TRPM2_uc002zex.1_Nonsense_Mutation_p.E780*|TRPM2_uc002zey.1_Nonsense_Mutation_p.E507*	p.E994*	NM_003307	NP_003298	O94759	TRPM2_HUMAN			21	3193	+			994			Extracellular (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	c.2980G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	40	8.477177	0.98829	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.78	3.87	0.44632	.	0.293905	0.30732	N	0.008997	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-17.2022	14.4535	0.67401	0.0:0.0:0.8516:0.1484	.	.	.	.	X	994;994;974;994	.	ENSP00000300481:E974X	E	+	1	0	TRPM2	44658219	0.997000	0.39634	0.029000	0.17559	0.955000	0.61496	3.490000	0.53245	1.094000	0.41399	0.591000	0.81541	GAG		PASS	0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		146	94	146	94	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3235500	3235500	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:3235500C>A	ENST00000217939.6	-	6	6376	c.6222G>T	c.(6220-6222)gcG>gcT	p.A2074A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2074	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)		p.A2074A(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGCAGGGGCGCAGCCTTGG	0.647																																						uc004crg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6220-6222)GCG>GCT		adlican precursor							27.0	23.0	24.0					X																	3235500		2181	4278	6459	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235500C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6222G>T	X.37:g.3235500C>A							p.A2074A	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6379	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2074			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6222G>T	CCDS14124.1																																																																																				PASS	0.647	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	6	5	6	---	---	---	---
FIGF	2277	broad.mit.edu	37	X	15381379	15381379	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:15381379C>T	ENST00000297904.3	-	2	582	c.153G>A	c.(151-153)gaG>gaA	p.E51E		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	51					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.E51E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GAAGTAGTTCCTCCAAACTAG	0.438																																						uc004cwt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(151-153)GAG>GAA		vascular endothelial growth factor D							106.0	88.0	94.0					X																	15381379		2203	4300	6503	SO:0001819	synonymous_variant	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15381379C>T	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.153G>A	X.37:g.15381379C>T							p.E51E	NM_004469	NP_004460	O43915	VEGFD_HUMAN			2	662	-	Hepatocellular(33;0.183)		51					B2R7Z3	Silent	SNP	ENST00000297904.3	37	c.153G>A	CCDS14166.1																																																																																				PASS	0.438	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		28	97	28	97	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18956828	18956828	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:18956828G>A	ENST00000379942.4	-	10	1623	c.958C>T	c.(958-960)Ctc>Ttc	p.L320F		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	320					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.L320F(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTTCGAAGAGCTTGAGTTCA	0.383																																						uc004cyv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(958-960)CTC>TTC		phosphorylase kinase, alpha 2 (liver)							118.0	103.0	108.0					X																	18956828		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18956828G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.958C>T	X.37:g.18956828G>A	ENSP00000369274:p.Leu320Phe						p.L320F	NM_000292	NP_000283	P46019	KPB2_HUMAN			10	1388	-	Hepatocellular(33;0.183)		320					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.958C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.172099	0.78452	.	.	ENSG00000044446	ENST00000379942	D	0.93076	-3.16	4.85	4.85	0.62838	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	M	0.88310	2.945	0.80722	D	1	D	0.62365	0.991	D	0.70487	0.969	D	0.96709	0.9524	10	0.54805	T	0.06	-16.0667	11.8778	0.52558	0.087:0.0:0.913:0.0	.	320	P46019	KPB2_HUMAN	F	320	ENSP00000369274:L320F	ENSP00000369274:L320F	L	-	1	0	PHKA2	18866749	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.610000	0.67668	2.128000	0.65567	0.597000	0.82753	CTC		PASS	0.383	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		8	143	8	143	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19380917	19380917	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:19380917C>T	ENST00000338883.4	-	26	3617	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R	MAP3K15_ENST00000359173.3_Silent_p.R641R|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.R1038R	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1206							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R681R(1)|p.R1253R(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTAGAGTTTGCCGCAGAAGAT	0.333																																						uc004czk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(2041-2043)CGG>CGA		mitogen-activated protein kinase kinase kinase							138.0	138.0	138.0					X																	19380917		2202	4300	6502	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19380917C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3618G>A	X.37:g.19380917C>T						MAP3K15_uc004czj.1_Silent_p.R641R|MAP3K15_uc004czi.1_Silent_p.R140R	p.R681R	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			27	3680	-	Hepatocellular(33;0.183)		1206			Potential.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.2043G>A																																																																																					PASS	0.333	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		5	223	5	223	---	---	---	---
GLOD5	392465	broad.mit.edu	37	X	48624360	48624360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:48624360G>T	ENST00000303227.6	+	2	225	c.184G>T	c.(184-186)Gag>Tag	p.E62*	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	62								p.E114*(1)		endometrium(1)|lung(2)	3						CCTGGGCATGGAGGTCATGAC	0.423																																						uc011mmh.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(184-186)GAG>TAG		glyoxalase domain containing 5							81.0	66.0	71.0					X																	48624360		1914	4104	6018	SO:0001587	stop_gained	392465							g.chrX:48624360G>T		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.184G>T	X.37:g.48624360G>T	ENSP00000302552:p.Glu62*					GLOD5_uc004dko.1_Nonsense_Mutation_p.E62*	p.E62*	NM_001080489	NP_001073958					2	225	+									Nonsense_Mutation	SNP	ENST00000303227.6	37	c.184G>T	CCDS55410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	23.9|23.9	4.475927|4.475927	0.84640|0.84640	.|.	.|.	ENSG00000171433|ENSG00000171433	ENST00000303227|ENST00000445229	.|.	.|.	.|.	4.92|4.92	4.05|4.05	0.47172|0.47172	.|.	0.105214|.	0.64402|.	D|.	0.000008|.	.|T	.|0.53690	.|0.1812	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62987	.|-0.6737	.|3	0.30078|.	T|.	0.28|.	.|.	10.4646|10.4646	0.44600|0.44600	0.0992:0.0:0.9008:0.0|0.0992:0.0:0.9008:0.0	.|.	.|.	.|.	.|.	X|C	62|28	.|.	ENSP00000302552:E62X|.	E|W	+|+	1|3	0|0	GLOD5|GLOD5	48509304|48509304	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.793000|0.793000	0.44817|0.44817	2.735000|2.735000	0.47377|0.47377	1.005000|1.005000	0.39183|0.39183	0.464000|0.464000	0.42555|0.42555	GAG|TGG		PASS	0.423	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		3	29	3	29	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84502615	84502615	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:84502615C>G	ENST00000373165.3	+	3	343	c.37C>G	c.(37-39)Cca>Gca	p.P13A	ZNF711_ENST00000276123.3_Missense_Mutation_p.P13A|ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000360700.4_Missense_Mutation_p.P13A	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	13					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P13A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATTGCACACGCCAGACTCTAG	0.328																																						uc004eeo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(37-39)CCA>GCA		zinc finger protein 711							142.0	130.0	134.0					X																	84502615		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84502615C>G	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.37C>G	X.37:g.84502615C>G	ENSP00000362260:p.Pro13Ala					ZNF711_uc004eep.2_Missense_Mutation_p.P13A|ZNF711_uc004eeq.2_Missense_Mutation_p.P13A	p.P13A	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			3	384	+			13					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.37C>G	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	c	11.10	1.539694	0.27563	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700	T;T;T	0.05580	3.42;3.42;3.44	4.64	0.392	0.16288	.	1.366630	0.06014	U	0.650116	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.0	T	0.26467	-1.0102	10	0.59425	D	0.04	0.1723	4.4501	0.11616	0.0:0.3784:0.4054:0.2162	.	13;13	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	A	13	ENSP00000362260:P13A;ENSP00000276123:P13A;ENSP00000353922:P13A	ENSP00000276123:P13A	P	+	1	0	ZNF711	84389271	0.997000	0.39634	0.997000	0.53966	0.910000	0.53928	1.542000	0.36137	0.110000	0.17919	-0.513000	0.04457	CCA		PASS	0.328	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		51	228	51	228	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551335	99551335	+	Silent	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:99551335C>A	ENST00000373034.4	-	6	5062	c.3387G>T	c.(3385-3387)ctG>ctT	p.L1129L	PCDH19_ENST00000420881.2_Silent_p.L1081L|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000255531.7_Silent_p.L1082L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1129					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1129L(1)|p.L582L(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTTCCTTCAGAATGGGGC	0.502																																						uc010nmz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(3385-3387)CTG>CTT		protocadherin 19 isoform b							125.0	118.0	120.0					X																	99551335		2031	4171	6202	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551335C>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3387G>T	X.37:g.99551335C>A						PCDH19_uc004efw.3_Silent_p.L1081L|PCDH19_uc004efx.3_Silent_p.L1082L	p.L1129L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			6	5063	-			1129			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.3387G>T	CCDS55462.1																																																																																				PASS	0.502	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		72	313	72	313	---	---	---	---
NXF5	55998	broad.mit.edu	37	X	101096499	101096499	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:101096499G>T	ENST00000361708.2	-	6	631	c.272C>A	c.(271-273)cCc>cAc	p.P91H	NXF5_ENST00000473265.2_Missense_Mutation_p.P91H|NXF5_ENST00000537026.1_Missense_Mutation_p.P91H			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	91	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P91H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACAGAGTAGGGCGCAGTAAA	0.473																																						uc011mrk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(271-273)CCC>CAC		nuclear RNA export factor 5							160.0	130.0	140.0					X																	101096499		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096499G>T	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.272C>A	X.37:g.101096499G>T	ENSP00000355286:p.Pro91His					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.P91H	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			6	632	-			91			RRM.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.272C>A		.	.	.	.	.	.	.	.	.	.	.	15.91	2.971682	0.53614	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.59364	0.27;0.27;0.27	2.18	2.18	0.27775	.	0.000000	0.85682	U	0.000000	T	0.75671	0.3881	M	0.90650	3.135	0.45261	D	0.998268	D	0.89917	1.0	D	0.85130	0.997	T	0.77451	-0.2583	10	0.87932	D	0	.	7.3337	0.26596	0.0:0.0:1.0:0.0	.	91	A2RRM0	.	H	91	ENSP00000442401:P91H;ENSP00000426978:P91H;ENSP00000355286:P91H	ENSP00000263032:P91H	P	-	2	0	NXF5	100983155	1.000000	0.71417	0.737000	0.30932	0.120000	0.20174	4.929000	0.63455	1.421000	0.47157	0.401000	0.26515	CCC		PASS	0.473	NXF5-201	KNOWN	basic	protein_coding	protein_coding				34	139	34	139	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977874	107977874	+	Silent	SNP	C	C	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:107977874C>T	ENST00000372129.2	-	1	1777	c.1701G>A	c.(1699-1701)ggG>ggA	p.G567G	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	567					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.G567G(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCATGCCCACCTCCAG	0.637																																						uc004eoc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1699-1701)GGG>GGA		insulin receptor substrate 4							126.0	128.0	127.0					X																	107977874		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977874C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1701G>A	X.37:g.107977874C>T							p.G567G	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1734	-			567						Silent	SNP	ENST00000372129.2	37	c.1701G>A	CCDS14544.1																																																																																				PASS	0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		6	386	6	386	---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299305	125299305	+	Silent	SNP	G	G	C			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:125299305G>C	ENST00000360028.2	-	1	629	c.603C>G	c.(601-603)gcC>gcG	p.A201A	DCAF12L2_ENST00000538699.1_Silent_p.A201A			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	201								p.A201A(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACTCAGCCAGGCGACTGCGA	0.642																																						uc004euk.1																			2	Substitution - coding silent(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(601-603)GCC>GCG		DDB1 and CUL4 associated factor 12-like 2							45.0	48.0	47.0					X																	125299305		2203	4299	6502	SO:0001819	synonymous_variant	340578							g.chrX:125299305G>C	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.603C>G	X.37:g.125299305G>C							p.A201A	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	630	-			201			WD 2.		B2RN42	Silent	SNP	ENST00000360028.2	37	c.603C>G	CCDS43991.1																																																																																				PASS	0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		12	81	12	81	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144337261	144337261	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:144337261C>A	ENST00000370493.3	+	2	905	c.146C>A	c.(145-147)tCa>tAa	p.S49*		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	49								p.S49*(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAATATTCAACAGTATTA	0.428																																						uc004fcb.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(145-147)TCA>TAA		SPANX-N1 protein							166.0	145.0	152.0					X																	144337261		2203	4297	6500	SO:0001587	stop_gained	494118							g.chrX:144337261C>A		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.146C>A	X.37:g.144337261C>A	ENSP00000359524:p.Ser49*						p.S49*	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			2	146	+	Acute lymphoblastic leukemia(192;6.56e-05)		49						Nonsense_Mutation	SNP	ENST00000370493.3	37	c.146C>A	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	35	5.582141	0.96578	.	.	ENSG00000203923	ENST00000370493	.	.	.	1.26	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.45239	D	0.998243	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5473	0.17071	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000359524:S49X	S	+	2	0	SPANXN1	144144953	0.006000	0.16342	0.006000	0.13384	0.016000	0.09150	-0.211000	0.09332	0.933000	0.37291	0.151000	0.16131	TCA		PASS	0.428	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		54	168	54	168	---	---	---	---
SLC6A8	6535	broad.mit.edu	37	X	152959803	152959803	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:152959803G>T	ENST00000253122.5	+	10	1873	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.G351V	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	466					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G466V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCCCAGGGCGGGATGTACGTC	0.632																																						uc004fib.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1396-1398)GGG>GTG		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						70.0	68.0	69.0					X																	152959803		2203	4300	6503	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152959803G>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1397G>T	X.37:g.152959803G>T	ENSP00000253122:p.Gly466Val					SLC6A8_uc004fic.3_Missense_Mutation_p.G456V|SLC6A8_uc011myx.1_Missense_Mutation_p.G351V|SLC6A8_uc010nuj.2_RNA	p.G466V	NM_005629	NP_005620	P48029	SC6A8_HUMAN			10	1675	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		466			Extracellular (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.1397G>T	CCDS14726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.98|19.98	3.926840|3.926840	0.73327|0.73327	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897;ENST00000413787|ENST00000442457	D;D;D|.	0.87729|.	-2.29;-2.29;-2.29|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|0.000000	0.85682|0.85682	U|U	0.000000|0.000000	D|.	0.88713|.	0.6511|.	H|H	0.98388|0.98388	4.22|4.22	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|.	0.93247|.	0.6631|.	10|.	0.87932|0.87932	D|D	0|0	.|.	15.3542|15.3542	0.74415|0.74415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	475;466|.	Q59EV7;P48029|.	.;SC6A8_HUMAN|.	V|X	466;351;534;109|151	ENSP00000253122:G466V;ENSP00000403041:G351V;ENSP00000400463:G109V|.	ENSP00000253122:G466V|ENSP00000403682:G151X	G|G	+|+	2|1	0|0	SLC6A8|SLC6A8	152612997|152612997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.531000|9.531000	0.98054|0.98054	1.860000|1.860000	0.53959|0.53959	0.529000|0.529000	0.55759|0.55759	GGG|GGA		PASS	0.632	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			44	164	44	164	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153589928	153589928	+	Silent	SNP	A	A	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chrX:153589928A>T	ENST00000369850.3	-	21	3191	c.2955T>A	c.(2953-2955)gtT>gtA	p.V985V	FLNA_ENST00000422373.1_Silent_p.V985V|FLNA_ENST00000360319.4_Silent_p.V985V|FLNA_ENST00000344736.4_Silent_p.V985V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	985					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.V985V(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCTTTGCCAACGTCCACCT	0.562																																						uc004fkk.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)	6						c.(2953-2955)GTT>GTA		filamin A, alpha isoform 2							126.0	123.0	124.0					X																	153589928		2093	4177	6270	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153589928A>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2955T>A	X.37:g.153589928A>T						FLNA_uc010nuu.1_Silent_p.V985V	p.V985V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3204	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		985			Filamin 8.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.2955T>A	CCDS48194.1																																																																																				PASS	0.562	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			37	128	37	128	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					uc003lgt.2																			1	Deletion - Frameshift(1)		central_nervous_system(1)		0						c.(349-351)ACGfs		dead end homolog 1							6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052285delT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs						p.T117fs	NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	393	-			117			RRM 1.			Frame_Shift_Del	DEL	ENST00000542735.1	37	c.349delA	CCDS4236.1																																																																																					0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		8	4	8	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577145	7577146	+	Frame_Shift_Ins	INS	-	-	T			TCGA-60-2711-01A-01D-1522-08	TCGA-60-2711-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ed85cc9-31bc-4cea-9e54-13b7c0e645fa	ce7955c2-2a2f-4d9e-b90b-c4cad1feba49	g.chr17:7577145_7577146insT	ENST00000269305.4	-	8	981_982	c.792_793insA	c.(790-795)ctactgfs	p.L265fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.L265fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L265fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L265fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L265fs	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	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L264del(4)|p.?(4)|p.L265M(4)|p.L265fs*80(3)|p.G262_F270delGNLLGRNSF(2)|p.L265del(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.264_265insSSGNL(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L265L(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)	TTCCGTCCCAGTAGATTACCAC	0.515		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		37	Deletion - In frame(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(4)|Substitution - Missense(4)|Insertion - Frameshift(1)|Insertion - In frame(1)|Substitution - coding silent(1)	p.0?(7)|p.L264L(5)|p.L264fs*81(4)|p.?(4)|p.L264del(4)|p.L265M(4)|p.L265fs*80(3)|p.L264I(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265del(2)|p.264_265insSSGNL(1)|p.E258fs*71(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L264V(1)|p.L264P(1)|p.L264R(1)|p.S261_L264>R(1)|p.L265_R267delLGR(1)|p.L265_K305del41(1)|p.L265L(1)	haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|cervix(2)|central_nervous_system(2)|biliary_tract(2)|urinary_tract(2)|lung(2)|stomach(1)|liver(1)|oesophagus(1)|eye(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(790-795)CTACTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577145_7577146insT	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.793dupA	17.37:g.7577146_7577146dupT	ENSP00000269305:p.Leu265fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.L264fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.L132fs|TP53_uc010cng.1_Frame_Shift_Ins_p.L132fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L132fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L264fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L264fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L264fs	p.L264fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	986_987	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	264_265		L -> M (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.792_793insA	CCDS11118.1																																																																																					0.515	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	15	17	15	---	---	---	---
