#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
PUSL1	126789	broad.mit.edu	37	1	1246036	1246036	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:1246036G>C	ENST00000379031.5	+	6	744	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_3'UTR|ACAP3_ENST00000353662.3_5'Flank|CPSF3L_ENST00000462432.1_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	223					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.E223Q(1)		lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAACCTGGAGTTTGAGAG	0.587																																						uc001aed.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(667-669)GAG>CAG		pseudouridylate synthase-like 1							144.0	146.0	145.0					1																	1246036		2203	4300	6503	SO:0001583	missense	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1246036G>C	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.667G>C	1.37:g.1246036G>C	ENSP00000368318:p.Glu223Gln					ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'Flank|PUSL1_uc010nyi.1_Missense_Mutation_p.E62Q|PUSL1_uc009vjx.2_Missense_Mutation_p.E24Q	p.E223Q	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	697	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	223					B4DP76|Q5TA41	Missense_Mutation	SNP	ENST00000379031.5	37	c.667G>C	CCDS20.1	.	.	.	.	.	.	.	.	.	.	G	7.073	0.568664	0.13560	.	.	ENSG00000169972	ENST00000379031	T	0.56611	0.45	4.04	4.04	0.47022	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.857725	0.10109	N	0.714996	T	0.61362	0.2341	M	0.66939	2.045	0.26330	N	0.97753	D	0.58970	0.984	P	0.57244	0.816	T	0.49418	-0.8942	10	0.16896	T	0.51	-25.8686	8.1731	0.31266	0.1144:0.0:0.8856:0.0	.	223	Q8N0Z8	PUSL1_HUMAN	Q	223	ENSP00000368318:E223Q	ENSP00000368318:E223Q	E	+	1	0	PUSL1	1235899	0.987000	0.35691	0.993000	0.49108	0.063000	0.16089	1.458000	0.35223	1.978000	0.57642	0.462000	0.41574	GAG		PASS	0.587	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1	NM_153339		5	155	5	155	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27878009	27878009	+	Silent	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:27878009G>A	ENST00000247087.5	-	5	1214	c.618C>T	c.(616-618)gaC>gaT	p.D206D	AHDC1_ENST00000374011.2_Silent_p.D206D			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	206	Pro-rich.						DNA binding (GO:0003677)	p.D206D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCTGGGGACTGTCCCTAGGCT	0.667																																						uc009vsy.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(616-618)GAC>GAT		AT hook, DNA binding motif, containing 1							43.0	48.0	46.0					1																	27878009		2203	4299	6502	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27878009G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.618C>T	1.37:g.27878009G>A						AHDC1_uc009vsz.1_Silent_p.D206D|AHDC1_uc001boh.1_Silent_p.D79D	p.D206D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1587	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	206			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.618C>T	CCDS30652.1																																																																																				PASS	0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			8	29	8	29	---	---	---	---
KIF2C	11004	broad.mit.edu	37	1	45232580	45232580	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:45232580C>G	ENST00000372224.4	+	20	2167	c.2054C>G	c.(2053-2055)tCt>tGt	p.S685C	KIF2C_ENST00000372222.3_Missense_Mutation_p.S572C|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.S644C|KIF2C_ENST00000372217.1_Missense_Mutation_p.S631C	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	685					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.S685C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAAGCGGAATCTGCTCTGGCC	0.587																																						uc001cmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2053-2055)TCT>TGT		kinesin family member 2C							96.0	92.0	93.0					1																	45232580		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45232580C>G	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2054C>G	1.37:g.45232580C>G	ENSP00000361298:p.Ser685Cys					KIF2C_uc010olb.1_Missense_Mutation_p.S644C|KIF2C_uc010olc.1_Missense_Mutation_p.S572C|KIF2C_uc001cmh.3_Missense_Mutation_p.S631C	p.S685C	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			20	2169	+	Acute lymphoblastic leukemia(166;0.155)		685					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.2054C>G	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	3.148	-0.174812	0.06421	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.75477	-0.94;-0.76;-0.93;-0.93	5.42	-0.0752	0.13728	.	0.876975	0.10161	N	0.708260	T	0.48295	0.1492	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.32534	-0.9903	10	0.45353	T	0.12	.	2.1644	0.03833	0.2214:0.3991:0.2302:0.1493	.	644;631;685	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	C	685;644;572;631	ENSP00000361298:S685C;ENSP00000361292:S644C;ENSP00000361296:S572C;ENSP00000361291:S631C	ENSP00000361291:S631C	S	+	2	0	KIF2C	45005167	0.989000	0.36119	0.694000	0.30210	0.053000	0.15095	0.081000	0.14823	0.072000	0.16694	-1.598000	0.00824	TCT		PASS	0.587	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		18	34	18	34	---	---	---	---
KIF2C	11004	broad.mit.edu	37	1	45232776	45232776	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:45232776C>G	ENST00000372224.4	+	21	2216	c.2103C>G	c.(2101-2103)atC>atG	p.I701M	KIF2C_ENST00000372222.3_Missense_Mutation_p.I588M|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.I660M|KIF2C_ENST00000372217.1_Missense_Mutation_p.I647M	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	701					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.I701M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CAGATGTCATCAAGGCCTTGC	0.542																																						uc001cmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2101-2103)ATC>ATG		kinesin family member 2C							105.0	113.0	110.0					1																	45232776		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45232776C>G	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2103C>G	1.37:g.45232776C>G	ENSP00000361298:p.Ile701Met					KIF2C_uc010olb.1_Missense_Mutation_p.I660M|KIF2C_uc010olc.1_Missense_Mutation_p.I588M|KIF2C_uc001cmh.3_Missense_Mutation_p.I647M	p.I701M	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			21	2218	+	Acute lymphoblastic leukemia(166;0.155)		701					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.2103C>G	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698711	0.30142	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.75938	-0.98;-0.81;-0.98;-0.98	5.76	3.71	0.42584	.	0.285441	0.30809	N	0.008838	T	0.53384	0.1793	N	0.08118	0	0.39116	D	0.961564	B;B;B	0.20550	0.035;0.046;0.035	B;B;B	0.26202	0.028;0.067;0.028	T	0.49986	-0.8880	10	0.22706	T	0.39	.	10.9848	0.47516	0.1066:0.548:0.3454:0.0	.	660;647;701	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	M	701;660;588;647	ENSP00000361298:I701M;ENSP00000361292:I660M;ENSP00000361296:I588M;ENSP00000361291:I647M	ENSP00000361291:I647M	I	+	3	3	KIF2C	45005363	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.526000	0.35964	1.381000	0.46364	0.563000	0.77884	ATC		PASS	0.542	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		23	44	23	44	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145282031	145282031	+	Nonstop_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:145282031G>C	ENST00000369340.3	+	6	1155	c.711G>C	c.(709-711)taG>taC	p.*237Y	NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000362074.6_Nonstop_Mutation_p.*237Y|RP11-458D21.5_ENST00000468030.1_Intron			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	0					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.*237Y(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ATGAGAATTAGACACTGGAAA	0.368																																						uc001emn.3																			2	Nonstop extension(2)		lung(2)	ovary(1)	1						c.(709-711)TAG>TAC		Notch homolog 2 N-terminal like protein							134.0	135.0	135.0					1																	145282031		2203	4300	6503	SO:0001578	stop_lost	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145282031G>C		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.711G>C	1.37:g.145282031G>C	ENSP00000358346:p.*237Tyrext*17					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc001emm.3_Nonstop_Mutation_p.*237Y|NOTCH2NL_uc001emo.2_Intron|NOTCH2NL_uc010oyh.1_Intron	p.*237Y	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			5	1081	+			237					Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Nonstop_Mutation	SNP	ENST00000369340.3	37	c.711G>C	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	3.026	-0.200714	0.06219	.	.	ENSG00000213240	ENST00000362074;ENST00000369340	.	.	.	2.65	-0.823	0.10815	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8418	0.05532	0.322:0.2469:0.4311:0.0	.	.	.	.	Y	237	.	.	X	+	3	2	NOTCH2NL	143993388	0.001000	0.12720	0.004000	0.12327	0.187000	0.23431	0.157000	0.16402	-0.016000	0.14127	0.194000	0.17425	TAG		PASS	0.368	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		6	71	6	71	---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153735786	153735786	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:153735786G>C	ENST00000318967.2	+	16	2282	c.1714G>C	c.(1714-1716)Gac>Cac	p.D572H	INTS3_ENST00000512605.1_Missense_Mutation_p.D366H|INTS3_ENST00000456435.1_Missense_Mutation_p.D366H|INTS3_ENST00000435409.2_Missense_Mutation_p.D572H|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	573					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.D572H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCTTACCTTGACCAGTTGGA	0.517																																						uc009wom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1714-1716)GAC>CAC		integrator complex subunit 3							155.0	149.0	151.0					1																	153735786		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153735786G>C	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1714G>C	1.37:g.153735786G>C	ENSP00000318641:p.Asp572His					INTS3_uc001fct.2_Missense_Mutation_p.D572H|INTS3_uc001fcu.2_Missense_Mutation_p.D264H|INTS3_uc001fcv.2_Missense_Mutation_p.D366H|INTS3_uc010peb.1_Missense_Mutation_p.D366H|INTS3_uc001fcw.2_Missense_Mutation_p.D85H|INTS3_uc010pec.1_Missense_Mutation_p.D85H	p.D572H	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		17	1935	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		573					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.1714G>C	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915897	0.52546	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.13	5.13	0.70059	.	0.054815	0.64402	D	0.000001	T	0.37571	0.1008	N	0.25647	0.755	0.49687	D	0.999813	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.14578	0.011;0.002;0.007	T	0.22626	-1.0211	9	0.42905	T	0.14	.	16.123	0.81375	0.0:0.0:1.0:0.0	.	366;573;572	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	H	572;366;572;366	.	ENSP00000318641:D572H	D	+	1	0	INTS3	152002410	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.312000	0.78968	2.665000	0.90641	0.561000	0.74099	GAC		PASS	0.517	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		58	71	58	71	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160136391	160136391	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:160136391C>T	ENST00000368081.4	+	8	1592	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	374					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.T374M(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGGTGGAGACGCTGGGCTCC	0.582																																						uc001fve.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1120-1122)ACG>ATG		Na+/K+ -ATPase alpha 4 subunit isoform 1							126.0	104.0	112.0					1																	160136391		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160136391C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1121C>T	1.37:g.160136391C>T	ENSP00000357060:p.Thr374Met					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Translation_Start_Site	p.T374M	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1600	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		374			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1121C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671393	0.88348	.	.	ENSG00000132681	ENST00000368081	D	0.92397	-3.03	4.35	4.35	0.52113	ATPase, P-type, cytoplasmic domain N (1);ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98235	1.0485	10	0.87932	D	0	.	14.7749	0.69724	0.0:1.0:0.0:0.0	.	374	Q13733	AT1A4_HUMAN	M	374	ENSP00000357060:T374M	ENSP00000357060:T374M	T	+	2	0	ATP1A4	158403015	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.580000	0.82523	2.427000	0.82271	0.650000	0.86243	ACG		PASS	0.582	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		15	45	15	45	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164781371	164781371	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:164781371A>G	ENST00000420696.2	+	6	1170	c.982A>G	c.(982-984)Act>Gct	p.T328A	PBX1_ENST00000401534.1_Missense_Mutation_p.T328A|PBX1_ENST00000540246.1_Missense_Mutation_p.T223A|PBX1_ENST00000560641.1_Missense_Mutation_p.T223A|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Missense_Mutation_p.T328A|PBX1_ENST00000367897.1_Missense_Mutation_p.T328A	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	328					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T328A(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTCGCCCTCAACTCCCAACTC	0.438			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|lung(1)|skin(1)	5						c.(982-984)ACT>GCT		pre-B-cell leukemia homeobox 1							100.0	79.0	86.0					1																	164781371		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164781371A>G	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.982A>G	1.37:g.164781371A>G	ENSP00000405890:p.Thr328Ala					PBX1_uc010pku.1_Missense_Mutation_p.T328A|PBX1_uc010pkv.1_Missense_Mutation_p.T245A|PBX1_uc001gcs.2_Missense_Mutation_p.T328A|PBX1_uc010pkw.1_Missense_Mutation_p.T218A	p.T328A	NM_002585	NP_002576	P40424	PBX1_HUMAN			6	1240	+			328					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.982A>G	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392698	0.62066	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	D;D;D;D;D	0.89196	-2.36;-2.26;-2.36;-2.26;-2.48	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.78637	2.42	.	.	.	B;B;P;B;B	0.35700	0.107;0.038;0.516;0.215;0.215	B;B;B;B;B	0.38755	0.065;0.013;0.281;0.146;0.146	D	0.84783	0.0774	9	0.21540	T	0.41	-11.9547	15.5991	0.76611	1.0:0.0:0.0:0.0	.	223;328;328;328;328	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	A	328;328;328;328;223	ENSP00000405890:T328A;ENSP00000356872:T328A;ENSP00000439943:T328A;ENSP00000384856:T328A;ENSP00000440869:T223A	ENSP00000356872:T328A	T	+	1	0	PBX1	163047995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.832000	0.92079	2.159000	0.67721	0.528000	0.53228	ACT		PASS	0.438	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		6	49	6	49	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173486811	173486811	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:173486811C>A	ENST00000367714.3	-	23	3194	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	924					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.E924D(1)									TTTGATTACTCTCTATTCCAA	0.393																																						uc001giz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2770-2772)GAG>GAT		solute carrier family 9, member 11							119.0	123.0	122.0					1																	173486811		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173486811C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2772G>T	1.37:g.173486811C>A	ENSP00000356687:p.Glu924Asp					SLC9A11_uc009wwe.2_Missense_Mutation_p.E482D	p.E924D	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			23	3195	-			924			cNMP.		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2772G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139180	0.01742	.	.	ENSG00000162753	ENST00000367714	D	0.92699	-3.09	5.01	-2.92	0.05615	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.367095	0.22670	N	0.057067	T	0.42063	0.1186	N	0.00801	-1.175	0.26932	N	0.966444	B	0.06786	0.001	B	0.04013	0.001	T	0.61686	-0.7012	10	0.02654	T	1	-0.9413	5.2557	0.15546	0.1027:0.5498:0.2118:0.1357	.	924	Q5TAH2	S9A11_HUMAN	D	924	ENSP00000356687:E924D	ENSP00000356687:E924D	E	-	3	2	SLC9A11	171753434	0.036000	0.19791	0.053000	0.19242	0.001000	0.01503	-0.088000	0.11198	-0.305000	0.08831	-1.984000	0.00453	GAG		PASS	0.393	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		4	115	4	115	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244218145	244218145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr1:244218145G>T	ENST00000358704.4	+	2	1218	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	348	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E348*(1)									TGTCCAGGTGGAGGGAGGCAT	0.622																																						uc001iae.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1042-1044)GAG>TAG		zinc finger protein 238 isoform 2							73.0	65.0	67.0					1																	244218145		2203	4300	6503	SO:0001587	stop_gained	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218145G>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1069G>T	1.37:g.244218145G>T	ENSP00000351539:p.Glu357*					ZNF238_uc001iad.3_Nonsense_Mutation_p.E357*|ZNF238_uc001iaf.1_3'UTR	p.E348*	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1564	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		348			Interaction with DNMT3A.		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Nonsense_Mutation	SNP	ENST00000358704.4	37	c.1042G>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	37	6.191890	0.97362	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	.	.	.	5.73	5.73	0.89815	.	0.058719	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	.	.	.	X	357	.	ENSP00000351539:E357X	E	+	1	0	ZNF238	242284768	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.863000	0.87023	2.718000	0.92993	0.650000	0.86243	GAG		PASS	0.622	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		23	23	23	23	---	---	---	---
TRAPPC12	51112	broad.mit.edu	37	2	3392130	3392130	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:3392130G>A	ENST00000324266.5	+	2	931	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A246T	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	246					vesicle-mediated transport (GO:0016192)			p.A246T(1)									cccggcccccgccagcccgcc	0.741																																						uc002qxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(736-738)GCC>ACC		tetratricopeptide repeat domain 15							8.0	12.0	11.0					2																	3392130		2130	4173	6303	SO:0001583	missense	51112						binding	g.chr2:3392130G>A	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.736G>A	2.37:g.3392130G>A	ENSP00000324318:p.Ala246Thr					TTC15_uc002qxn.1_Missense_Mutation_p.A246T|TTC15_uc010ewm.1_Missense_Mutation_p.A246T|TTC15_uc002qxl.1_Missense_Mutation_p.A246T	p.A246T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	2	942	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	246					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.736G>A	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	8.973	0.973529	0.18736	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.56776	0.44;0.44	5.09	4.22	0.49857	.	0.438298	0.27117	N	0.020844	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.004;0.004;0.008	B;B;B	0.04013	0.001;0.001;0.001	T	0.12066	-1.0562	10	0.23302	T	0.38	.	13.3265	0.60463	0.076:0.0:0.924:0.0	.	229;246;246	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	T	246;229;246	ENSP00000371544:A246T;ENSP00000324318:A246T	ENSP00000303612:A229T	A	+	1	0	TTC15	3371137	0.321000	0.24625	0.005000	0.12908	0.001000	0.01503	2.864000	0.48404	1.515000	0.48885	-0.119000	0.15052	GCC		PASS	0.741	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		6	2	6	2	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27303628	27303628	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:27303628C>T	ENST00000380320.4	+	3	818	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	107	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R107C(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCGCTACCGTGTGGCCTA	0.637											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rii.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(319-321)CGT>TGT		elastin microfibril interfacer 1 precursor							52.0	41.0	44.0					2																	27303628		2203	4300	6503	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27303628C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.319C>T	2.37:g.27303628C>T	ENSP00000369677:p.Arg107Cys		OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793	EMILIN1_uc010eyq.1_Missense_Mutation_p.R107C|EMILIN1_uc002rik.3_5'Flank	p.R107C	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			3	747	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		107			EMI.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.319C>T	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810531	0.90707	.	.	ENSG00000138080	ENST00000380320	T	0.55588	0.51	6.07	5.12	0.69794	EMI domain (2);	0.064290	0.56097	D	0.000023	T	0.67608	0.2911	L	0.60455	1.87	0.49389	D	0.999789	D	0.89917	1.0	D	0.76071	0.987	T	0.68808	-0.5311	10	0.87932	D	0	-14.6297	13.3525	0.60609	0.1674:0.8326:0.0:0.0	.	107	Q9Y6C2	EMIL1_HUMAN	C	107	ENSP00000369677:R107C	ENSP00000369677:R107C	R	+	1	0	EMILIN1	27157132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.423000	0.52756	2.884000	0.98904	0.655000	0.94253	CGT		PASS	0.637	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		9	19	9	19	---	---	---	---
ALK	238	broad.mit.edu	37	2	29917801	29917801	+	Silent	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:29917801G>A	ENST00000389048.3	-	3	1773	c.867C>T	c.(865-867)tcC>tcT	p.S289S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	289	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S289S(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGCGGCGCCAGGACCAGCTCT	0.602			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(865-867)TCC>TCT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						99.0	96.0	97.0					2																	29917801		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917801G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.867C>T	2.37:g.29917801G>A							p.S289S	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			3	1774	-	Acute lymphoblastic leukemia(172;0.155)		289			MAM 1.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.867C>T	CCDS33172.1																																																																																				PASS	0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	88	4	88	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49381444	49381444	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:49381444G>C	ENST00000406846.2	-	1	232	c.113C>G	c.(112-114)aCa>aGa	p.T38R	FSHR_ENST00000346173.3_Missense_Mutation_p.T38R|FSHR_ENST00000304421.4_Missense_Mutation_p.T38R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	38	LRRNT.				female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.T38R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGGAATCTCTGTCACCTTGCT	0.502									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(112-114)ACA>AGA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						75.0	75.0	75.0					2																	49381444		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381444G>C		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.113C>G	2.37:g.49381444G>C	ENSP00000384708:p.Thr38Arg					FSHR_uc002rwx.2_Missense_Mutation_p.T38R|FSHR_uc010fbn.2_Missense_Mutation_p.T38R|FSHR_uc010fbo.1_RNA	p.T38R	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	187	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	38			LRRNT.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.113C>G	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639806	0.67244	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (2);	0.319524	0.31082	N	0.008299	D	0.98096	0.9372	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.85130	0.965;0.997;0.915	D	0.97815	1.0253	9	.	.	.	.	14.6913	0.69087	0.0:0.0:1.0:0.0	.	38;38;38	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	R	38	ENSP00000384708:T38R;ENSP00000333908:T38R;ENSP00000306780:T38R;ENSP00000415504:T38R	.	T	-	2	0	FSHR	49234948	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.463000	0.45058	2.840000	0.97914	0.655000	0.94253	ACA		PASS	0.502	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			14	28	14	28	---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54014505	54014505	+	Missense_Mutation	SNP	C	C	G	rs372793033		TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:54014505C>G	ENST00000185150.4	+	1	289	c.158C>G	c.(157-159)tCt>tGt	p.S53C	ERLEC1_ENST00000405123.3_Missense_Mutation_p.S53C|ERLEC1_ENST00000494373.1_3'UTR|GPR75-ASB3_ENST00000406687.1_5'Flank|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_5'Flank|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000263634.3_5'Flank|ERLEC1_ENST00000378239.5_Missense_Mutation_p.S53C	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	53					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.S53C(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACCGAGTTCTCTCTGGTCAGT	0.622																																						uc002rxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(157-159)TCT>TGT		erlectin isoform 1							52.0	60.0	58.0					2																	54014505		2203	4300	6503	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014505C>G	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.158C>G	2.37:g.54014505C>G	ENSP00000185150:p.Ser53Cys					ASB3_uc002rxg.1_5'Flank|ASB3_uc002rxh.1_5'Flank|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_5'Flank|ERLEC1_uc002rxm.2_Missense_Mutation_p.S53C|ERLEC1_uc002rxn.2_Missense_Mutation_p.S53C	p.S53C	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			1	438	+			53					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.158C>G	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936370	0.73442	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.46819	0.86;0.87	4.51	4.51	0.55191	.	0.184853	0.44902	D	0.000417	T	0.53722	0.1814	.	.	.	0.43698	D	0.996156	D;P;D	0.61697	0.99;0.94;0.979	P;P;P	0.52424	0.698;0.502;0.613	T	0.53041	-0.8494	9	0.37606	T	0.19	-11.6858	13.2114	0.59828	0.0:0.7913:0.2087:0.0	.	53;53;53	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	C	53	ENSP00000385629:S53C;ENSP00000185150:S53C	ENSP00000185150:S53C	S	+	2	0	ERLEC1	53868009	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.942000	0.56614	2.317000	0.78254	0.561000	0.74099	TCT		PASS	0.622	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		18	44	18	44	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74757203	74757203	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:74757203C>T	ENST00000258080.3	+	1	700	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Missense_Mutation_p.R24C|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	24					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.R24C(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GGGGGGCATTCGCTGGGGGAG	0.711																																						uc002smi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)CGC>TGC		HtrA serine peptidase 2 isoform 1 preproprotein							14.0	20.0	18.0					2																	74757203		2101	4177	6278	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757203C>T		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.70C>T	2.37:g.74757203C>T	ENSP00000258080:p.Arg24Cys					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.R24C|HTRA2_uc002smk.1_Missense_Mutation_p.R24C|HTRA2_uc002sml.1_Missense_Mutation_p.R24C|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	p.R24C	NM_013247	NP_037379	O43464	HTRA2_HUMAN			1	672	+			24					Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.70C>T	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	c	9.786	1.176580	0.21704	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.19669	2.13;2.13;2.13	4.8	2.93	0.34026	.	0.802333	0.11002	N	0.610376	T	0.13372	0.0324	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.18178	-1.0345	10	0.62326	D	0.03	0.267	6.5147	0.22242	0.0:0.6933:0.0:0.3067	.	24;24;24;24	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	C	24;24;11	ENSP00000258080:R24C;ENSP00000312893:R24C;ENSP00000399166:R11C	ENSP00000258080:R24C	R	+	1	0	HTRA2	74610711	0.000000	0.05858	0.050000	0.19076	0.144000	0.21451	0.245000	0.18142	1.213000	0.43380	0.457000	0.33378	CGC		PASS	0.711	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		13	28	13	28	---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88427470	88427470	+	Splice_Site	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:88427470C>T	ENST00000295834.3	-	1	165	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	FABP1_ENST00000393750.3_Splice_Site_p.G23S|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	23					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)	p.G23S(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CAGCACTCACCGATTGCCTTC	0.517																																						uc002sst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GGT>AGT		fatty acid binding protein 1, liver							198.0	170.0	180.0					2																	88427470		2203	4300	6503	SO:0001630	splice_region_variant	2168				organ morphogenesis			g.chr2:88427470C>T	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.67+1G>A	2.37:g.88427470C>T						FABP1_uc002ssu.2_Missense_Mutation_p.G23S	p.G23S	NM_001443	NP_001434	P07148	FABPL_HUMAN			1	109	-			23						Missense_Mutation	SNP	ENST00000295834.3	37	c.67G>A	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171208	0.78452	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.40225	1.04;1.04	5.66	5.66	0.87406	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.049957	0.85682	D	0.000000	T	0.68320	0.2988	M	0.82517	2.595	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.72625	0.978;0.97	T	0.70171	-0.4945	9	.	.	.	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	23;23	A8MW49;P07148	.;FABPL_HUMAN	S	23	ENSP00000295834:G23S;ENSP00000377351:G23S	.	G	-	1	0	FABP1	88208585	1.000000	0.71417	0.961000	0.40146	0.231000	0.25187	7.032000	0.76498	2.668000	0.90789	0.655000	0.94253	GGT		PASS	0.517	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443	Missense_Mutation	38	90	38	90	---	---	---	---
FHL2	2274	broad.mit.edu	37	2	105990063	105990063	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:105990063T>C	ENST00000409807.1	-	3	618	c.284A>G	c.(283-285)aAc>aGc	p.N95S	FHL2_ENST00000393353.3_Missense_Mutation_p.N95S|AC012360.6_ENST00000415627.1_RNA|FHL2_ENST00000344213.4_Missense_Mutation_p.N205S|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000358129.4_Missense_Mutation_p.N95S|FHL2_ENST00000393352.3_Missense_Mutation_p.N95S|FHL2_ENST00000409177.1_Missense_Mutation_p.N211S|FHL2_ENST00000408995.1_Missense_Mutation_p.N95S|FHL2_ENST00000322142.8_Missense_Mutation_p.N95S			Q14192	FHL2_HUMAN	four and a half LIM domains 2	95					androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N95S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TGAGTACTCGTTGGAATAGCA	0.532																																						uc002tcu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)AAC>AGC		four and a half LIM domains 2							239.0	170.0	193.0					2																	105990063		2203	4300	6503	SO:0001583	missense	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105990063T>C		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.284A>G	2.37:g.105990063T>C	ENSP00000386665:p.Asn95Ser					FHL2_uc002tdc.2_Intron|FHL2_uc002tdd.2_Missense_Mutation_p.N95S|FHL2_uc002tcv.2_Missense_Mutation_p.N95S|FHL2_uc002tcw.2_Missense_Mutation_p.N95S|FHL2_uc002tcx.2_Missense_Mutation_p.N95S|FHL2_uc010fje.2_Intron|FHL2_uc002tcy.2_Missense_Mutation_p.N95S|FHL2_uc002tcz.2_Missense_Mutation_p.N205S|FHL2_uc002tda.2_Intron|FHL2_uc002tdb.2_Missense_Mutation_p.N211S|FHL2_uc002tde.1_Missense_Mutation_p.N188S	p.N95S	NM_201557	NP_963851	Q14192	FHL2_HUMAN			3	621	-			95					Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	c.284A>G	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902297	0.33628	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	4.93	3.79	0.43588	Zinc finger, LIM-type (3);	0.184633	0.56097	D	0.000026	T	0.80518	0.4638	L	0.39397	1.21	0.80722	D	1	B;B;B;B	0.29085	0.002;0.008;0.232;0.004	B;B;B;B	0.34991	0.023;0.023;0.193;0.048	T	0.72616	-0.4239	10	0.11794	T	0.64	.	9.9563	0.41668	0.0:0.0804:0.0:0.9196	.	95;95;205;95	Q2TSB7;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	S	95;205;95;95;95;95;95;95	ENSP00000386892:N95S;ENSP00000344266:N205S;ENSP00000377021:N95S;ENSP00000377020:N95S;ENSP00000322909:N95S;ENSP00000350846:N95S;ENSP00000386665:N95S;ENSP00000386633:N95S	ENSP00000322909:N95S	N	-	2	0	FHL2	105356495	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.525000	0.53502	1.845000	0.53610	0.460000	0.39030	AAC		PASS	0.532	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			6	28	6	28	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520797	131520797	+	Silent	SNP	C	C	T	rs200882863		TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:131520797C>T	ENST00000423981.1	+	2	1262	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	AMER3_ENST00000321420.4_Silent_p.D384D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	384					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.D384D(2)									CCACAAGTGACGAGGGCTACT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17372	0.0		0.0	False		,,,				2504	0.0					uc002trw.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(1150-1152)GAC>GAT		hypothetical protein LOC205147							77.0	60.0	66.0					2																	131520797		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520797C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1152C>T	2.37:g.131520797C>T						FAM123C_uc010fmv.2_Silent_p.D384D|FAM123C_uc010fms.1_Silent_p.D384D|FAM123C_uc010fmt.1_Silent_p.D384D|FAM123C_uc010fmu.1_Silent_p.D384D	p.D384D	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1342	+	Colorectal(110;0.1)		384					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1152C>T	CCDS2164.1																																																																																				PASS	0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		11	28	11	28	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>CAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	p.E79Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		PASS	0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		19	55	19	55	---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178402887	178402887	+	Silent	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:178402887C>T	ENST00000264167.4	+	20	2087	c.1941C>T	c.(1939-1941)gaC>gaT	p.D647D	AGPS_ENST00000409888.1_Silent_p.D178D	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	647					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.D647D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AATATGTGGACCCCAATAACA	0.348																																						uc002ull.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1939-1941)GAC>GAT		alkyldihydroxyacetone phosphate synthase							121.0	120.0	121.0					2																	178402887		2203	4300	6503	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178402887C>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1941C>T	2.37:g.178402887C>T						AGPS_uc010zfb.1_Silent_p.D557D	p.D647D	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		20	1988	+			647					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1941C>T	CCDS2275.1																																																																																				PASS	0.348	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			6	133	6	133	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179579026	179579026	+	Silent	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:179579026G>A	ENST00000591111.1	-	89	25748	c.25524C>T	c.(25522-25524)tcC>tcT	p.S8508S	TTN_ENST00000342992.6_Silent_p.S7581S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.S8825S			Q8WZ42	TITIN_HUMAN	titin	12672	Ig-like 67.				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.S7581S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCGAGAACGGATAGCGTGG	0.398																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(22741-22743)TCC>TCT		titin isoform N2-A							134.0	130.0	132.0					2																	179579026		1918	4133	6051	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579026G>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.25524C>T	2.37:g.179579026G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S4242S	p.S7581S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		88	22967	-			8508					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.22743C>T																																																																																					PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	173	4	173	---	---	---	---
CCNYL1	151195	broad.mit.edu	37	2	208611876	208611876	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:208611876G>A	ENST00000295414.3	+	8	956	c.745G>A	c.(745-747)Gat>Aat	p.D249N	CCNYL1_ENST00000339882.5_Missense_Mutation_p.D198N|CCNYL1_ENST00000392209.3_Missense_Mutation_p.D179N			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	249	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)			p.D179N(1)		endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		GGTTTGGGACGATCAGGCTGT	0.428																																						uc002vci.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GAT>AAT		cyclin Y-like 1 isoform 1							126.0	116.0	119.0					2																	208611876		2203	4300	6503	SO:0001583	missense	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208611876G>A	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.745G>A	2.37:g.208611876G>A	ENSP00000295414:p.Asp249Asn					CCNYL1_uc002vch.2_Missense_Mutation_p.D179N	p.D198N	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	6	949	+			249			Cyclin N-terminal.		Q6NX60	Missense_Mutation	SNP	ENST00000295414.3	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.298479	0.81025	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882;ENST00000420321	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.64	5.64	0.86602	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	U	0.000000	D	0.88265	0.6390	M	0.73319	2.225	0.80722	D	1	P;P	0.47191	0.531;0.891	B;B	0.42771	0.397;0.377	D	0.88137	0.2842	10	0.42905	T	0.14	.	19.7594	0.96308	0.0:0.0:1.0:0.0	.	198;249	Q8N7R7-2;Q8N7R7	.;CCYL1_HUMAN	N	179;249;198;59	ENSP00000376045:D179N;ENSP00000295414:D249N;ENSP00000342344:D198N;ENSP00000396072:D59N	ENSP00000295414:D249N	D	+	1	0	CCNYL1	208320121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.830000	0.99415	2.662000	0.90505	0.549000	0.68633	GAT		PASS	0.428	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		15	45	15	45	---	---	---	---
GLB1L	79411	broad.mit.edu	37	2	220103867	220103867	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr2:220103867C>G	ENST00000295759.7	-	11	1322	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.E247Q|GLB1L_ENST00000356283.3_Missense_Mutation_p.E247Q|GLB1L_ENST00000392089.2_Missense_Mutation_p.E337Q			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	337					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.E337Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCCTGCTTCAGATATAGGT	0.423																																						uc002vkm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1009-1011)GAA>CAA		galactosidase, beta 1-like precursor							113.0	109.0	110.0					2																	220103867		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220103867C>G		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1009G>C	2.37:g.220103867C>G	ENSP00000295759:p.Glu337Gln					GLB1L_uc002vkk.2_Missense_Mutation_p.E94Q|GLB1L_uc010zkx.1_Missense_Mutation_p.E247Q|GLB1L_uc002vkn.2_Missense_Mutation_p.E337Q	p.E337Q	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1248	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	337					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1009G>C	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112780	0.77210	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17	5.64	5.64	0.86602	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97133	0.9819	10	0.87932	D	0	-19.29	19.8946	0.96949	0.0:1.0:0.0:0.0	.	247;337	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	Q	337;247;337;247	ENSP00000295759:E337Q;ENSP00000386354:E247Q;ENSP00000375939:E337Q;ENSP00000348628:E247Q	ENSP00000295759:E337Q	E	-	1	0	GLB1L	219812111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.628000	0.83189	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.423	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		14	42	14	42	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13417073	13417073	+	Silent	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr3:13417073G>A	ENST00000254508.5	-	11	1444	c.1362C>T	c.(1360-1362)atC>atT	p.I454I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.I454I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATACAGGGTGATCGGGATGT	0.542																																						uc003bxv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(1360-1362)ATC>ATT		nucleoporin 210 precursor							204.0	184.0	191.0					3																	13417073		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13417073G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1362C>T	3.37:g.13417073G>A						NUP210_uc003bxx.2_Silent_p.I126I	p.I454I	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			11	1445	-	all_neural(104;0.187)		454			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.1362C>T	CCDS33704.1																																																																																				PASS	0.542	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		20	99	20	99	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33617711	33617711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr3:33617711G>A	ENST00000468888.2	-	24	2453	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*	CLASP2_ENST00000480013.1_Nonsense_Mutation_p.R590*|CLASP2_ENST00000461133.3_Nonsense_Mutation_p.R569*|CLASP2_ENST00000399362.4_Nonsense_Mutation_p.R802*|CLASP2_ENST00000539981.1_Nonsense_Mutation_p.R572*|CLASP2_ENST00000359576.5_Nonsense_Mutation_p.R802*|CLASP2_ENST00000307312.7_Nonsense_Mutation_p.R291*			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	590					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.R802*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAGGACTCGCATGGCACTA	0.423																																						uc003cfu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2404-2406)CGA>TGA		CLIP-associating protein 2							83.0	83.0	83.0					3																	33617711		1974	4156	6130	SO:0001587	stop_gained	23122							g.chr3:33617711G>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2407C>T	3.37:g.33617711G>A	ENSP00000419974:p.Arg803*					CLASP2_uc003cfs.2_Nonsense_Mutation_p.R2*|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Nonsense_Mutation_p.R395*	p.R802*	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			24	2758	-			803					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Nonsense_Mutation	SNP	ENST00000468888.2	37	c.2404C>T		.	.	.	.	.	.	.	.	.	.	G	52	18.947264	0.99912	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	.	.	.	5.75	1.5	0.22942	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7674	15.9797	0.80097	0.0:0.0:0.3508:0.6492	.	.	.	.	X	803;802;802;291;572;590;569;93	.	ENSP00000304743:R291X	R	-	1	2	CLASP2	33592715	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	0.602000	0.24134	0.030000	0.15379	-1.036000	0.02392	CGA		PASS	0.423	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		3	28	3	28	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73013431	73013431	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr4:73013431C>G	ENST00000308744.6	+	4	1569	c.1471C>G	c.(1471-1473)Cat>Gat	p.H491D	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.H389D|NPFFR2_ENST00000395999.1_Missense_Mutation_p.H392D|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	491					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.H491D(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCAAAACCCTCATGGGGAAAC	0.378																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1471-1473)CAT>GAT		neuropeptide FF receptor 2 isoform 1							67.0	74.0	71.0					4																	73013431		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013431C>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1471C>G	4.37:g.73013431C>G	ENSP00000307822:p.His491Asp					NPFFR2_uc010iig.1_Missense_Mutation_p.H273D|NPFFR2_uc003hgi.2_Missense_Mutation_p.H392D|NPFFR2_uc003hgh.2_Missense_Mutation_p.H389D|NPFFR2_uc003hgj.2_RNA	p.H491D	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1569	+			491			Cytoplasmic (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1471C>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255759	0.22965	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.71698	-0.59;-0.45;-0.48	4.86	2.13	0.27403	.	1.562670	0.03988	N	0.294448	T	0.51126	0.1656	N	0.19112	0.55	0.09310	N	1	B;B	0.28082	0.043;0.2	B;B	0.19666	0.023;0.026	T	0.32771	-0.9894	10	0.12430	T	0.62	.	4.2179	0.10544	0.2844:0.5006:0.1378:0.0772	.	392;491	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	D	491;392;389	ENSP00000307822:H491D;ENSP00000379321:H392D;ENSP00000351599:H389D	ENSP00000307822:H491D	H	+	1	0	NPFFR2	73232295	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.091000	0.15046	0.233000	0.21120	0.563000	0.77884	CAT		PASS	0.378	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		17	34	17	34	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73943167	73943167	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr4:73943167G>C	ENST00000358602.4	-	32	7608	c.7492C>G	c.(7492-7494)Caa>Gaa	p.Q2498E	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q2247E|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2385E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2498					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q2498E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCATTGCTTGATGTTGTGAA	0.453																																						uc003hgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(7492-7494)CAA>GAA		ankyrin repeat domain protein 17 isoform a							191.0	171.0	178.0					4																	73943167		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73943167G>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7492C>G	4.37:g.73943167G>C	ENSP00000351416:p.Gln2498Glu					ANKRD17_uc003hgo.2_Missense_Mutation_p.Q2385E|ANKRD17_uc003hgq.2_Missense_Mutation_p.Q2247E|ANKRD17_uc003hgr.2_Missense_Mutation_p.Q2497E	p.Q2498E	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		32	7609	-	Breast(15;0.000295)		2498					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.7492C>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769689	0.69992	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	T;T;T	0.74526	-0.85;-0.8;-0.8	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000008	D	0.84696	0.5529	L	0.58810	1.83	0.46356	D	0.999009	P;P;P;P	0.52577	0.954;0.954;0.924;0.924	D;D;P;P	0.67900	0.954;0.954;0.9;0.9	D	0.85269	0.1055	10	0.87932	D	0	.	19.7278	0.96172	0.0:0.0:1.0:0.0	.	2497;2247;2498;2385	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	E	2498;1905;2247;2385	ENSP00000351416:Q2498E;ENSP00000332265:Q2247E;ENSP00000427151:Q2385E	ENSP00000332265:Q2247E	Q	-	1	0	ANKRD17	74162031	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.766000	0.91728	2.681000	0.91329	0.563000	0.77884	CAA		PASS	0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		30	57	30	57	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94145893	94145893	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr4:94145893G>T	ENST00000282020.4	+	7	1350	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	GRID2_ENST00000510992.1_Missense_Mutation_p.Q269H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	364					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.Q364H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGCCCTGGCAGGGTGGGCGCT	0.408																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1090-1092)CAG>CAT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						65.0	64.0	64.0					4																	94145893		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94145893G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1092G>T	4.37:g.94145893G>T	ENSP00000282020:p.Gln364His					GRID2_uc011cdu.1_Missense_Mutation_p.Q269H|GRID2_uc010ikz.1_Missense_Mutation_p.Q45H	p.Q364H	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	7	1350	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	364			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1092G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945308	0.34377	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.86097	-2.07;-2.07;-2.07	5.53	2.41	0.29592	Extracellular ligand-binding receptor (1);	0.127163	0.53938	D	0.000046	D	0.83658	0.5302	N	0.22421	0.69	0.53005	D	0.999966	P;P;D	0.71674	0.918;0.918;0.998	P;P;D	0.68943	0.601;0.601;0.961	T	0.81967	-0.0690	10	0.62326	D	0.03	.	7.1368	0.25533	0.454:0.0:0.546:0.0	.	269;364;269	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	H	364;269;45	ENSP00000282020:Q364H;ENSP00000421257:Q269H;ENSP00000423331:Q45H	ENSP00000282020:Q364H	Q	+	3	2	GRID2	94364916	0.835000	0.29415	1.000000	0.80357	0.958000	0.62258	-0.035000	0.12205	0.681000	0.31386	0.655000	0.94253	CAG		PASS	0.408	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			9	18	9	18	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123178555	123178555	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr4:123178555T>A	ENST00000264501.4	+	41	6897	c.6524T>A	c.(6523-6525)aTg>aAg	p.M2175K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.M2175K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M2175K			Q2LD37	K1109_HUMAN	KIAA1109	2175					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.M2175K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAATAGCTATGGACCATGAA	0.463																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(6523-6525)ATG>AAG		fragile site-associated protein							212.0	203.0	206.0					4																	123178555		2024	4199	6223	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123178555T>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6524T>A	4.37:g.123178555T>A	ENSP00000264501:p.Met2175Lys					KIAA1109_uc003iel.1_Missense_Mutation_p.M110K|KIAA1109_uc003iek.2_Missense_Mutation_p.M794K	p.M2175K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			39	6569	+			2175					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.6524T>A	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.79|12.79|12.79	2.043712|2.043712|2.043712	0.36085|0.36085|0.36085	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180|ENST00000419325	T;T;T|.|.	0.27256|.|.	2.57;2.57;1.68|.|.	6.07|6.07|6.07	4.89|4.89|4.89	0.63831|0.63831|0.63831	.|.|.	0.594910|.|.	0.13491|.|.	U|.|.	0.383991|.|.	T|T|.	0.18130|0.18130|.	0.0435|0.0435|.	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B|.|.	0.06786|.|.	0.0;0.001;0.0|.|.	B;B;B|.|.	0.04013|.|.	0.001;0.0;0.0|.|.	T|T|.	0.20207|0.20207|.	-1.0282|-1.0282|.	10|5|.	0.54805|.|.	T|.|.	0.06|.|.	.|.|.	6.518|6.518|6.518	0.22258|0.22258|0.22258	0.0:0.1356:0.1315:0.733|0.0:0.1356:0.1315:0.733|0.0:0.1356:0.1315:0.733	.|.|.	2175;2174;2175|.|.	Q2LD37-6;Q2LD37-2;Q2LD37|.|.	.;.;K1109_HUMAN|.|.	K|R|X	2175|748|132	ENSP00000264501:M2175K;ENSP00000373390:M2175K;ENSP00000389925:M2175K|.|.	ENSP00000264501:M2175K|.|.	M|W|Y	+|+|+	2|1|3	0|0|2	KIAA1109|KIAA1109|KIAA1109	123398005|123398005|123398005	0.237000|0.237000|0.237000	0.23815|0.23815|0.23815	0.597000|0.597000|0.597000	0.28824|0.28824|0.28824	0.939000|0.939000|0.939000	0.58152|0.58152|0.58152	2.024000|2.024000|2.024000	0.41049|0.41049|0.41049	1.126000|1.126000|1.126000	0.42016|0.42016|0.42016	0.477000|0.477000|0.477000	0.44152|0.44152|0.44152	ATG|TGG|TAT		PASS	0.463	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		28	92	28	92	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13841159	13841159	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr5:13841159G>C	ENST00000265104.4	-	34	5669	c.5565C>G	c.(5563-5565)atC>atG	p.I1855M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1855	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1855M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTTCTGCATGATTTTTTTAT	0.403									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5563-5565)ATC>ATG		dynein, axonemal, heavy chain 5							141.0	137.0	138.0					5																	13841159		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841159G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5565C>G	5.37:g.13841159G>C	ENSP00000265104:p.Ile1855Met						p.I1855M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			34	5607	-	Lung NSC(4;0.00476)		1855			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5565C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828185	0.32329	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.77	3.96	0.45880	.	0.097944	0.64402	D	0.000002	T	0.31071	0.0785	M	0.80982	2.52	0.48395	D	0.999648	B	0.22983	0.078	B	0.32090	0.14	T	0.16158	-1.0412	10	0.56958	D	0.05	.	4.607	0.12382	0.1651:0.0:0.5254:0.3095	.	1855	Q8TE73	DYH5_HUMAN	M	1855	ENSP00000265104:I1855M	ENSP00000265104:I1855M	I	-	3	3	DNAH5	13894159	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.566000	0.23593	0.747000	0.32809	-0.136000	0.14681	ATC		PASS	0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		18	94	18	94	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13920702	13920702	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr5:13920702G>A	ENST00000265104.4	-	6	789	c.685C>T	c.(685-687)Ctt>Ttt	p.L229F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	229	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L229F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCAGTTCAAGTATGTCACAC	0.378									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(685-687)CTT>TTT		dynein, axonemal, heavy chain 5							131.0	126.0	127.0					5																	13920702		2202	4299	6501	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13920702G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.685C>T	5.37:g.13920702G>A	ENSP00000265104:p.Leu229Phe					DNAH5_uc003jfe.1_RNA	p.L229F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			6	727	-	Lung NSC(4;0.00476)		229			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.685C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	0.027	-1.361586	0.01235	.	.	ENSG00000039139	ENST00000265104	T	0.25749	1.78	6.07	-0.496	0.12027	.	0.381500	0.30519	N	0.009454	T	0.08088	0.0202	N	0.08118	0	0.24021	N	0.996148	B	0.02656	0.0	B	0.04013	0.001	T	0.23368	-1.0190	10	0.13108	T	0.6	.	1.5864	0.02645	0.5266:0.1185:0.1277:0.2272	.	229	Q8TE73	DYH5_HUMAN	F	229	ENSP00000265104:L229F	ENSP00000265104:L229F	L	-	1	0	DNAH5	13973702	1.000000	0.71417	0.173000	0.22940	0.003000	0.03518	3.399000	0.52586	-0.293000	0.08986	-1.087000	0.02190	CTT		PASS	0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	79	13	79	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35740042	35740042	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr5:35740042C>T	ENST00000356031.3	+	22	3239	c.3085C>T	c.(3085-3087)Cct>Tct	p.P1029S	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.P1024S	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1029					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.P1029S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTTTAGTACCTTACTGGGA	0.348																																						uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3085-3087)CCT>TCT		KPL2 protein isoform 1							75.0	70.0	72.0					5																	35740042		1828	4080	5908	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740042C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3085C>T	5.37:g.35740042C>T	ENSP00000348314:p.Pro1029Ser					SPEF2_uc003jjp.1_Missense_Mutation_p.P515S	p.P1029S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		22	3196	+	all_lung(31;7.56e-05)		1029					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3085C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492474	0.64074	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.05786	3.39;3.39	5.74	4.84	0.62591	.	0.196730	0.43416	D	0.000571	T	0.13329	0.0323	L	0.33668	1.02	0.80722	D	1	D;D	0.64830	0.994;0.972	P;P	0.60949	0.881;0.647	T	0.08229	-1.0732	10	0.28530	T	0.3	.	16.1396	0.81513	0.1341:0.8659:0.0:0.0	.	1024;1029	Q9C093-2;Q9C093	.;SPEF2_HUMAN	S	1029;1024	ENSP00000348314:P1029S;ENSP00000412125:P1024S	ENSP00000348314:P1029S	P	+	1	0	SPEF2	35775799	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.588000	0.46137	2.723000	0.93209	0.655000	0.94253	CCT		PASS	0.348	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		12	65	12	65	---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172659789	172659789	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr5:172659789T>G	ENST00000329198.4	-	2	1031	c.758A>C	c.(757-759)tAc>tCc	p.Y253S		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	253	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y253S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATAGGCGGGGTAGGCGTTATA	0.706																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	uc003mcm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(757-759)TAC>TCC		NK2 transcription factor related, locus 5							11.0	14.0	13.0					5																	172659789		2143	4208	6351	SO:0001583	missense	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172659789T>G	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.758A>C	5.37:g.172659789T>G	ENSP00000327758:p.Tyr253Ser						p.Y253S	NM_004387	NP_004378	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	934	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	253			Ala/Pro-rich.		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.758A>C	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654890	0.67472	.	.	ENSG00000183072	ENST00000329198	D	0.91686	-2.89	3.96	3.96	0.45880	.	0.000000	0.43416	D	0.000561	D	0.94971	0.8373	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93715	0.7027	10	0.29301	T	0.29	.	13.0135	0.58743	0.0:0.0:0.0:1.0	.	253	P52952	NKX25_HUMAN	S	253	ENSP00000327758:Y253S	ENSP00000327758:Y253S	Y	-	2	0	NKX2-5	172592395	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.357000	0.79456	1.652000	0.50683	0.448000	0.29417	TAC		PASS	0.706	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			5	8	5	8	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30856735	30856735	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr6:30856735G>A	ENST00000324771.8	+	5	684	c.136G>A	c.(136-138)Gac>Aac	p.D46N	DDR1_ENST00000376569.3_Missense_Mutation_p.D46N|DDR1_ENST00000376570.4_Missense_Mutation_p.D46N|DDR1_ENST00000454612.2_Missense_Mutation_p.D46N|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.D46N|DDR1_ENST00000418800.2_Missense_Mutation_p.D46N|DDR1_ENST00000446312.1_Missense_Mutation_p.D46N|DDR1_ENST00000452441.1_Missense_Mutation_p.D46N|DDR1_ENST00000376567.2_Missense_Mutation_p.D46N|DDR1_ENST00000376568.3_Missense_Mutation_p.D46N|DDR1_ENST00000513240.1_Missense_Mutation_p.D46N|DDR1_ENST00000508312.1_Missense_Mutation_p.D64N|DDR1_ENST00000361741.4_5'Flank			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	46	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D46N(3)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCAGACAGTGACATCTCTGC	0.592																																						uc003nrr.2																			3	Substitution - Missense(3)		lung(3)	lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(136-138)GAC>AAC		discoidin domain receptor family, member 1	Imatinib(DB00619)						88.0	67.0	75.0					6																	30856735		1511	2709	4220	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30856735G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.136G>A	6.37:g.30856735G>A	ENSP00000318217:p.Asp46Asn					DDR1_uc010jse.2_Missense_Mutation_p.D46N|DDR1_uc003nrq.2_Missense_Mutation_p.D46N|DDR1_uc003nrs.2_Missense_Mutation_p.D46N|DDR1_uc003nrt.2_Missense_Mutation_p.D46N|DDR1_uc011dms.1_Missense_Mutation_p.D64N|DDR1_uc011dmt.1_Missense_Mutation_p.D72N|DDR1_uc003nru.2_Missense_Mutation_p.D46N|DDR1_uc011dmu.1_Missense_Mutation_p.D46N|DDR1_uc003nrv.2_Missense_Mutation_p.D46N|DDR1_uc003nrw.1_5'Flank	p.D46N	NM_013993	NP_054699	Q08345	DDR1_HUMAN			4	395	+			46			Extracellular (Potential).|F5/8 type C.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.136G>A	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114229	0.94339	.	.	ENSG00000204580	ENST00000502955;ENST00000505066;ENST00000460944;ENST00000324771;ENST00000505534;ENST00000503180;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000412274;ENST00000507901;ENST00000454612;ENST00000507046;ENST00000437124;ENST00000396342;ENST00000504651;ENST00000512694;ENST00000515233;ENST00000515881;ENST00000513043;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000376567;ENST00000513240	T;D;D;D;D;T;D;D;D;T;D;D;T;D;D;D;D;D;D;T;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98901	0.35;-5.22;-5.22;-5.22;-5.22;0.08;-5.22;-5.22;-5.22;0.38;-5.22;-5.22;0.63;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;0.08;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	5.08	5.08	0.68730	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.988;0.993;0.996;0.998;0.999	D	0.99379	1.0922	10	0.46703	T	0.11	.	15.9509	0.79835	0.0:0.0:1.0:0.0	.	46;72;64;46;46	Q08345-4;B7Z3A2;B7Z2K0;Q08345-5;Q08345	.;.;.;.;DDR1_HUMAN	N	46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;46;64;46;46;46;46;72;46;46	ENSP00000424346:D46N;ENSP00000421189:D46N;ENSP00000426420:D46N;ENSP00000318217:D46N;ENSP00000420833:D46N;ENSP00000424468:D46N;ENSP00000427369:D46N;ENSP00000407699:D46N;ENSP00000422331:D46N;ENSP00000392413:D46N;ENSP00000424703:D46N;ENSP00000406091:D46N;ENSP00000425713:D46N;ENSP00000394273:D46N;ENSP00000379631:D46N;ENSP00000424758:D46N;ENSP00000426229:D46N;ENSP00000422467:D46N;ENSP00000423492:D46N;ENSP00000423928:D46N;ENSP00000365753:D46N;ENSP00000425113:D46N;ENSP00000365759:D46N;ENSP00000365754:D46N;ENSP00000405998:D46N;ENSP00000427597:D46N;ENSP00000390593:D46N;ENSP00000365752:D46N;ENSP00000405039:D46N;ENSP00000422442:D64N;ENSP00000421719:D46N;ENSP00000409682:D46N;ENSP00000422108:D46N;ENSP00000423906:D46N;ENSP00000423749:D72N;ENSP00000365751:D46N;ENSP00000427552:D46N	ENSP00000318217:D46N	D	+	1	0	DDR1	30964714	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.723000	0.74742	2.346000	0.79739	0.305000	0.20034	GAC		PASS	0.592	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		9	18	9	18	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161026228	161026228	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr6:161026228T>C	ENST00000316300.5	-	18	2839	c.2795A>G	c.(2794-2796)gAg>gGg	p.E932G	LPA_ENST00000447678.1_Missense_Mutation_p.E932G			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3440	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.E932G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGGCCTTTGCTCAGTTGGTGC	0.443																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(2794-2796)GAG>GGG		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						207.0	213.0	211.0					6																	161026228		2182	4293	6475	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161026228T>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2795A>G	6.37:g.161026228T>C	ENSP00000321334:p.Glu932Gly						p.E932G	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	19	2915	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3440			Kringle 31.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2795A>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	8.943	0.966260	0.18659	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63096	-0.02;-0.02	2.16	2.16	0.27623	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.66858	0.2832	M	0.89601	3.045	0.09310	N	1	P	0.50528	0.936	P	0.61201	0.885	T	0.55412	-0.8145	9	0.36615	T	0.2	.	6.2159	0.20656	0.0:0.0:0.0:1.0	.	3440	P08519	APOA_HUMAN	G	932	ENSP00000321334:E932G;ENSP00000395608:E932G	ENSP00000321334:E932G	E	-	2	0	LPA	160946218	0.244000	0.23889	0.290000	0.24890	0.101000	0.19017	2.129000	0.42055	0.999000	0.39023	0.155000	0.16302	GAG		PASS	0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		4	229	4	229	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41739883	41739883	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:41739883G>T	ENST00000242208.4	-	2	336	c.90C>A	c.(88-90)agC>agA	p.S30R	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S30R|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	30					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.S30R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGGGGGCCGCGCTGTGCCCCT	0.587										TSP Lung(11;0.080)																												uc003thq.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(88-90)AGC>AGA		inhibin beta A precursor							117.0	135.0	129.0					7																	41739883		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739883G>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.90C>A	7.37:g.41739883G>T	ENSP00000242208:p.Ser30Arg	TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.S30R|LOC285954_uc003ths.2_Intron	p.S30R	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	325	-			30					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.90C>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895704	0.33442	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.79033	-1.23;-1.23	5.36	-4.78	0.03209	.	0.293013	0.32578	N	0.005901	T	0.55465	0.1922	N	0.24115	0.695	0.09310	N	1	B	0.28082	0.2	B	0.19148	0.024	T	0.37596	-0.9699	10	0.37606	T	0.19	-5.0781	9.8711	0.41175	0.4639:0.0898:0.4463:0.0	.	30	P08476	INHBA_HUMAN	R	30	ENSP00000242208:S30R;ENSP00000397197:S30R	ENSP00000242208:S30R	S	-	3	2	INHBA	41706408	0.929000	0.31497	0.004000	0.12327	0.970000	0.65996	0.038000	0.13862	-1.072000	0.03141	0.563000	0.77884	AGC		PASS	0.587	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			50	175	50	175	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44714139	44714139	+	Silent	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:44714139C>A	ENST00000222673.5	+	7	960	c.918C>A	c.(916-918)atC>atA	p.I306I	OGDH_ENST00000439616.2_Silent_p.I156I|OGDH_ENST00000543843.1_Silent_p.I257I|OGDH_ENST00000447398.1_Silent_p.I317I|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000444676.1_Silent_p.I321I|OGDH_ENST00000449767.1_Silent_p.I302I|OGDH_ENST00000443864.2_Silent_p.I306I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	306					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.I306I(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACTACGTGATCATGGGCATGC	0.562																																						uc003tln.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(916-918)ATC>ATA		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						118.0	96.0	103.0					7																	44714139		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44714139C>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.918C>A	7.37:g.44714139C>A						OGDH_uc003tlm.2_Silent_p.I306I|OGDH_uc011kbx.1_Silent_p.I302I|OGDH_uc011kby.1_Silent_p.I156I|OGDH_uc003tlp.2_Silent_p.I317I|OGDH_uc011kbz.1_Silent_p.I101I|OGDH_uc003tlo.1_Silent_p.I139I	p.I306I	NM_002541	NP_002532	Q02218	ODO1_HUMAN			7	1027	+			306					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.918C>A	CCDS34627.1																																																																																				PASS	0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			8	41	8	41	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47319763	47319763	+	Splice_Site	SNP	T	T	C	rs536929378		TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:47319763T>C	ENST00000398879.1	-	30	4558	c.4192A>G	c.(4192-4194)Aaa>Gaa	p.K1398E	TNS3_ENST00000355730.3_Splice_Site_p.K1158E|TNS3_ENST00000311160.9_Splice_Site_p.K1398E			Q68CZ2	TENS3_HUMAN	tensin 3	1398					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.K1398E(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCAACTTACTTTGAGGAAGGG	0.368													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18346	0.0		0.0	False		,,,				2504	0.0					uc003tnv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4192-4194)AAA>GAA		tensin 3							99.0	97.0	97.0					7																	47319763		1817	4073	5890	SO:0001630	splice_region_variant	64759					focal adhesion	protein binding	g.chr7:47319763T>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.4193+1A>G	7.37:g.47319763T>C						TNS3_uc003tnw.2_Missense_Mutation_p.K1398E	p.K1398E	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			30	4559	-			1398					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.4192A>G	CCDS5506.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.415912|4.415912	0.83449|0.83449	.|.	.|.	ENSG00000136205|ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849|ENST00000428457	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);|.	0.179758|0.179758	0.47455|0.47455	D|N	0.000233|0.000233	T|T	0.73345|0.73345	0.3575|0.3575	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.54601|.	0.967|.	P|.	0.50860|.	0.652|.	T|T	0.74506|0.74506	-0.3643|-0.3643	10|6	0.72032|.	D|.	0.01|.	-8.1466|-8.1466	13.1081|13.1081	0.59259|0.59259	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1398|.	Q68CZ2|.	TENS3_HUMAN|.	E|R	1398;1398;1158;854|20	ENSP00000312143:K1398E;ENSP00000381854:K1398E;ENSP00000347968:K1158E|.	ENSP00000312143:K1398E|.	K|K	-|-	1|2	0|0	TNS3|TNS3	47286288|47286288	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.800000|0.800000	0.45204|0.45204	6.326000|6.326000	0.72905|0.72905	1.972000|1.972000	0.57404|0.57404	0.519000|0.519000	0.50382|0.50382	AAA|AAA		PASS	0.368	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	Missense_Mutation	34	60	34	60	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71571274	71571274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:71571274G>A	ENST00000329008.5	-	3	422	c.124C>T	c.(124-126)Cga>Tga	p.R42*	CALN1_ENST00000412588.1_Nonsense_Mutation_p.R84*|CALN1_ENST00000395275.2_Nonsense_Mutation_p.R84*|CALN1_ENST00000431984.1_Nonsense_Mutation_p.R42*|CALN1_ENST00000405452.2_Nonsense_Mutation_p.R42*|CALN1_ENST00000395276.2_Nonsense_Mutation_p.R42*	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.R84*(1)|p.R42*(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AAGGCCTCTCGGATTTCTACA	0.522																																						uc003twa.3																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(124-126)CGA>TGA		calneuron 1 isoform 2							49.0	50.0	50.0					7																	71571274		2203	4300	6503	SO:0001587	stop_gained	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571274G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.124C>T	7.37:g.71571274G>A	ENSP00000332498:p.Arg42*					CALN1_uc003twb.3_Nonsense_Mutation_p.R84*|CALN1_uc003twc.3_Nonsense_Mutation_p.R42*	p.R42*	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			3	651	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	42			EF-hand 1.|Cytoplasmic (Potential).		J3KQA7	Nonsense_Mutation	SNP	ENST00000329008.5	37	c.124C>T	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173260	0.94807	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	.	.	.	5.51	3.64	0.41730	.	0.110408	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-1.0657	11.6295	0.51166	0.0:0.1347:0.7252:0.1401	.	.	.	.	X	42;84;42;42;84;42;42	.	ENSP00000332498:R42X	R	-	1	2	CALN1	71209210	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	7.604000	0.82830	0.654000	0.30846	0.597000	0.82753	CGA		PASS	0.522	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		11	21	11	21	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764926	82764926	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:82764926C>A	ENST00000333891.9	-	3	2277	c.1940G>T	c.(1939-1941)gGc>gTc	p.G647V	PCLO_ENST00000423517.2_Missense_Mutation_p.G647V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G647V(2)|p.G593V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGATCCCCGCCTAGAGCTCT	0.448																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(1939-1941)GGC>GTC		piccolo isoform 1							51.0	50.0	50.0					7																	82764926		1922	4116	6038	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764926C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1940G>T	7.37:g.82764926C>A	ENSP00000334319:p.Gly647Val					PCLO_uc003uhv.2_Missense_Mutation_p.G647V	p.G647V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2229	-			593			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1940G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402113	0.25291	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.36157	1.27;1.28	5.31	5.31	0.75309	.	.	.	.	.	T	0.47948	0.1473	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67231	0.95;0.95	T	0.48581	-0.9023	9	0.87932	D	0	.	14.5762	0.68249	0.0:0.8541:0.1459:0.0	.	647;647	Q9Y6V0-5;Q9Y6V0-6	.;.	V	593;647;647	ENSP00000334319:G647V;ENSP00000388393:G647V	ENSP00000334319:G647V	G	-	2	0	PCLO	82602862	0.998000	0.40836	0.989000	0.46669	0.781000	0.44180	3.812000	0.55628	2.485000	0.83878	0.591000	0.81541	GGC		PASS	0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	9	4	9	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117254679	117254679	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:117254679G>C	ENST00000003084.6	+	21	3512	c.3380G>C	c.(3379-3381)gGa>gCa	p.G1127A	CFTR_ENST00000454343.1_Missense_Mutation_p.G1066A|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1127	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.G1127A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAAGGAGAAGGAAGAGTTGGT	0.398									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CM941982	CFTR	M		c.(3379-3381)GGA>GCA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						181.0	161.0	168.0					7																	117254679		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117254679G>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3380G>C	7.37:g.117254679G>C	ENSP00000003084:p.Gly1127Ala					CFTR_uc011knq.1_Missense_Mutation_p.G533A	p.G1127A	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		21	3512	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1127			Extracellular (Potential).|ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3380G>C	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.040226|4.040226	0.75732|0.75732	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000468795|ENST00000003084;ENST00000454343;ENST00000426809	.|D;D;D	.|0.97186	.|-4.28;-4.28;-4.28	5.9|5.9	5.9|5.9	0.94986|0.94986	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.|0.046402	.|0.85682	.|D	.|0.000000	D|D	0.97573|0.97573	0.9205|0.9205	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|P	.|0.45827	.|0.867	.|P	.|0.55749	.|0.783	D|D	0.97575|0.97575	1.0107|1.0107	5|10	.|0.87932	.|D	.|0	-22.3765|-22.3765	13.4639|13.4639	0.61243|0.61243	0.0711:0.0:0.9288:0.0|0.0711:0.0:0.9288:0.0	.|.	.|1127	.|P13569	.|CFTR_HUMAN	Q|A	69|1127;1066;1097	.|ENSP00000003084:G1127A;ENSP00000403677:G1066A;ENSP00000389119:G1097A	.|ENSP00000003084:G1127A	E|G	+|+	1|2	0|0	CFTR|CFTR	117041915|117041915	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.935000|0.935000	0.57460|0.57460	4.727000|4.727000	0.61993|0.61993	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	GAA|GGA		PASS	0.398	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		14	50	14	50	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117307086	117307086	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:117307086G>T	ENST00000003084.6	+	27	4499	c.4367G>T	c.(4366-4368)aGc>aTc	p.S1456I	CFTR_ENST00000454343.1_Missense_Mutation_p.S1395I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1456					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.S1456I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CGGAACTCAAGCAAGTGCAAG	0.517									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(4366-4368)AGC>ATC		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						59.0	54.0	56.0					7																	117307086		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117307086G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4367G>T	7.37:g.117307086G>T	ENSP00000003084:p.Ser1456Ile					CFTR_uc011knq.1_Missense_Mutation_p.S862I	p.S1456I	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		27	4499	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1456			Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.4367G>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262279	0.39995	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92805	-3.01;-2.84;-3.11	5.47	5.47	0.80525	.	0.078555	0.85682	D	0.000000	D	0.94105	0.8110	M	0.85710	2.77	0.80722	D	1	P	0.40398	0.716	B	0.42798	0.398	D	0.94755	0.7931	10	0.87932	D	0	-18.4974	19.6975	0.96031	0.0:0.0:1.0:0.0	.	1456	P13569	CFTR_HUMAN	I	1456;1395;1426	ENSP00000003084:S1456I;ENSP00000403677:S1395I;ENSP00000389119:S1426I	ENSP00000003084:S1456I	S	+	2	0	CFTR	117094322	1.000000	0.71417	0.997000	0.53966	0.129000	0.20672	3.552000	0.53705	2.729000	0.93468	0.557000	0.71058	AGC		PASS	0.517	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		6	20	6	20	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143091367	143091367	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:143091367C>T	ENST00000275815.3	-	15	2508	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.D808N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCCACACATCGCTGGCTGTG	0.542																																						uc003wcz.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|breast(1)	5						c.(2422-2424)GAT>AAT		ephrin receptor EphA1 precursor							171.0	144.0	154.0					7																	143091367		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143091367C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2422G>A	7.37:g.143091367C>T	ENSP00000275815:p.Asp808Asn						p.D808N	NM_005232	NP_005223	P21709	EPHA1_HUMAN			15	2509	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	808			Protein kinase.|Cytoplasmic (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2422G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077438	0.76528	.	.	ENSG00000146904	ENST00000275815	D	0.88509	-2.39	4.52	4.52	0.55395	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.96386	0.8821	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97762	1.0221	10	0.87932	D	0	.	17.7849	0.88534	0.0:1.0:0.0:0.0	.	808	P21709	EPHA1_HUMAN	N	808	ENSP00000275815:D808N	ENSP00000275815:D808N	D	-	1	0	EPHA1	142801489	1.000000	0.71417	0.887000	0.34795	0.165000	0.22458	7.583000	0.82559	2.494000	0.84150	0.591000	0.81541	GAT		PASS	0.542	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			14	48	14	48	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158449118	158449118	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr7:158449118G>A	ENST00000409423.1	-	20	2394	c.2222C>T	c.(2221-2223)aCa>aTa	p.T741I	NCAPG2_ENST00000275830.10_Missense_Mutation_p.T533I|NCAPG2_ENST00000541468.1_Missense_Mutation_p.T242I|NCAPG2_ENST00000356309.3_Missense_Mutation_p.T741I|NCAPG2_ENST00000409339.3_Missense_Mutation_p.T741I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T741I	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	741					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.T741I(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAGAAGCTGTGTTGCTCTG	0.423																																						uc003wnv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(2221-2223)ACA>ATA		leucine zipper protein 5							129.0	128.0	128.0					7																	158449118		1952	4150	6102	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158449118G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2222C>T	7.37:g.158449118G>A	ENSP00000386569:p.Thr741Ile					NCAPG2_uc010lqu.1_Missense_Mutation_p.T533I|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.T741I|NCAPG2_uc011kwe.1_Missense_Mutation_p.T741I|NCAPG2_uc011kwc.1_Missense_Mutation_p.T242I|NCAPG2_uc011kwd.1_Missense_Mutation_p.T184I	p.T741I	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	19	2367	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	741					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2222C>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.700|4.700	0.130194|0.130194	0.08981|0.08981	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000441982|ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727	.|T;T;T;T;T;T	.|0.41400	.|1.0;1.0;1.0;1.0;1.0;1.0	5.68|5.68	3.58|3.58	0.41010|0.41010	.|.	.|0.985838	.|0.08286	.|N	.|0.969206	.|T	.|0.26304	.|0.0642	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.28584	.|0.127;0.216;0.002;0.067	.|B;B;B;B	.|0.30716	.|0.047;0.119;0.001;0.048	.|T	.|0.29150	.|-1.0021	.|10	.|0.38643	.|T	.|0.18	-0.0962|-0.0962	4.7546|4.7546	0.13077|0.13077	0.2054:0.0:0.5281:0.2665|0.2054:0.0:0.5281:0.2665	.|.	.|741;184;533;741	.|Q86XI2-2;B4DHE5;E7EUH9;Q86XI2	.|.;.;.;CNDG2_HUMAN	X|I	543|242;741;741;533;741;184;741	.|ENSP00000442337:T242I;ENSP00000348657:T741I;ENSP00000386569:T741I;ENSP00000275830:T533I;ENSP00000387007:T741I;ENSP00000388326:T741I	.|ENSP00000275830:T533I	Q|T	-|-	1|2	0|0	NCAPG2|NCAPG2	158141879|158141879	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.825000|0.825000	0.27393|0.27393	0.545000|0.545000	0.28902|0.28902	0.655000|0.655000	0.94253|0.94253	CAG|ACA		PASS	0.423	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		3	63	3	63	---	---	---	---
IKBKB	3551	broad.mit.edu	37	8	42176881	42176881	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr8:42176881C>G	ENST00000520810.1	+	14	1644	c.1458C>G	c.(1456-1458)ttC>ttG	p.F486L	IKBKB_ENST00000379708.3_Missense_Mutation_p.F263L|IKBKB_ENST00000416505.2_Missense_Mutation_p.F427L|IKBKB_ENST00000520835.1_Missense_Mutation_p.F484L|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	486					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.F486L(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGGATTTCTTCAAAACCAGCA	0.458											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xow.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1456-1458)TTC>TTG		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						120.0	110.0	113.0					8																	42176881		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42176881C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1458C>G	8.37:g.42176881C>G	ENSP00000430684:p.Phe486Leu		OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	IKBKB_uc010lxh.1_Missense_Mutation_p.F381L|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.F263L|IKBKB_uc003xox.1_Missense_Mutation_p.F207L|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.F484L|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.F427L	p.F486L	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		14	1635	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	486					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1458C>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239178	0.79800	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;D;T;T	0.82081	-1.44;-1.57;-1.39;2.11	5.95	-0.341	0.12639	.	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.79926	2.475	0.49582	D	0.999801	D;D;D;D;D	0.69078	0.997;0.985;0.997;0.995;0.974	D;P;D;P;P	0.75020	0.985;0.907;0.97;0.831;0.81	D	0.86319	0.1691	10	0.39692	T	0.17	.	12.3711	0.55256	0.0:0.5768:0.0:0.4232	.	427;484;263;437;486	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	L	486;427;484;263	ENSP00000430684:F486L;ENSP00000404920:F427L;ENSP00000430868:F484L;ENSP00000369030:F263L	ENSP00000369030:F263L	F	+	3	2	IKBKB	42296038	0.969000	0.33509	0.992000	0.48379	0.986000	0.74619	0.129000	0.15830	-0.274000	0.09232	-0.251000	0.11542	TTC		PASS	0.458	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			23	54	23	54	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71075035	71075035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr8:71075035C>T	ENST00000452400.2	-	9	1068	c.887G>A	c.(886-888)tGg>tAg	p.W296*		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	296					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.W296*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGGTCCTCCCAGCCTGGTTT	0.458			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Nonsense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(886-888)TGG>TAG		nuclear receptor coactivator 2							162.0	158.0	159.0					8																	71075035		1967	4154	6121	SO:0001587	stop_gained	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71075035C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.887G>A	8.37:g.71075035C>T	ENSP00000399968:p.Trp296*						p.W296*	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		9	1049	-	Breast(64;0.201)		296					Q14CD2	Nonsense_Mutation	SNP	ENST00000452400.2	37	c.887G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	41	8.667720	0.98908	.	.	ENSG00000140396	ENST00000452400	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	296	.	ENSP00000399968:W296X	W	-	2	0	NCOA2	71237589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	TGG		PASS	0.458	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			43	101	43	101	---	---	---	---
MRPS28	28957	broad.mit.edu	37	8	80942390	80942390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr8:80942390C>A	ENST00000276585.4	-	1	116	c.94G>T	c.(94-96)Gag>Tag	p.E32*	TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000521605.1_Nonsense_Mutation_p.E32*|RP11-92K15.3_ENST00000607017.1_lincRNA|MRPS28_ENST00000522987.1_5'UTR|MRPS28_ENST00000521434.1_5'Flank	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	32						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.E32*(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			GATCCACTCTCAGTGCCTACA	0.592																																						uc003ybp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(94-96)GAG>TAG		mitochondrial ribosomal protein S28							39.0	40.0	40.0					8																	80942390		2203	4300	6503	SO:0001587	stop_gained	28957					mitochondrial small ribosomal subunit		g.chr8:80942390C>A	AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.94G>T	8.37:g.80942390C>A	ENSP00000276585:p.Glu32*					MRPS28_uc003ybo.2_5'UTR|TPD52_uc010lzr.2_Intron	p.E32*	NM_014018	NP_054737	Q9Y2Q9	RT28_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)		1	117	-	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		32					B2RDZ7|Q96Q21	Nonsense_Mutation	SNP	ENST00000276585.4	37	c.94G>T	CCDS6226.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101724	0.76983	.	.	ENSG00000147586	ENST00000276585;ENST00000521605	.	.	.	5.38	3.57	0.40892	.	1.330850	0.04674	N	0.411159	.	.	.	.	.	.	0.26127	N	0.98047	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.0245	0.24932	0.0:0.7039:0.2036:0.0925	.	.	.	.	X	32	.	ENSP00000276585:E32X	E	-	1	0	MRPS28	81104945	0.909000	0.30893	0.026000	0.17262	0.105000	0.19272	1.272000	0.33109	0.811000	0.34303	0.655000	0.94253	GAG		PASS	0.592	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018		14	27	14	27	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131916111	131916111	+	Silent	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr8:131916111C>T	ENST00000286355.5	-	7	3910	c.1818G>A	c.(1816-1818)gtG>gtA	p.V606V	ADCY8_ENST00000377928.3_Silent_p.V606V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	606					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.V606V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGAGGAGCTCACTGACTCCT	0.473										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1816-1818)GTG>GTA		adenylate cyclase 8							112.0	99.0	103.0					8																	131916111		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916111C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1818G>A	8.37:g.131916111C>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.V606V	p.V606V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	2074	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		606			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.1818G>A	CCDS6363.1																																																																																				PASS	0.473	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			21	61	21	61	---	---	---	---
IFNA17	3451	broad.mit.edu	37	9	21227905	21227905	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr9:21227905G>C	ENST00000413767.2	-	1	316	c.268C>G	c.(268-270)Ctc>Gtc	p.L90V		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	90					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L90V(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTGCTGAAGAGATTGAAGGTC	0.473																																						uc003zos.1																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)CTC>GTC		interferon, alpha 17 precursor							58.0	60.0	59.0					9																	21227905		2203	4289	6492	SO:0001583	missense	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227905G>C		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.268C>G	9.37:g.21227905G>C	ENSP00000411940:p.Leu90Val					IFNA14_uc003zoo.1_Intron	p.L90V	NM_021268	NP_067091	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	317	-			90					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	ENST00000413767.2	37	c.268C>G	CCDS6500.1	.	.	.	.	.	.	.	.	.	.	g	15.28	2.786806	0.49997	.	.	ENSG00000234829	ENST00000413767	T	0.04119	3.7	2.87	2.87	0.33458	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.261790	0.31589	N	0.007385	T	0.15003	0.0362	M	0.82323	2.585	0.20638	N	0.999878	P	0.50617	0.937	P	0.56865	0.808	T	0.01767	-1.1278	10	0.56958	D	0.05	.	7.2798	0.26304	0.0:0.0:0.737:0.263	.	90	P01571	IFN17_HUMAN	V	90	ENSP00000411940:L90V	ENSP00000411940:L90V	L	-	1	0	IFNA17	21217905	0.303000	0.24463	0.037000	0.18230	0.562000	0.35680	0.351000	0.20096	1.599000	0.50093	0.423000	0.28283	CTC		PASS	0.473	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		31	74	31	74	---	---	---	---
EQTN	54586	broad.mit.edu	37	9	27296647	27296647	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr9:27296647C>G	ENST00000380032.3	-	2	249	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000537675.1_Missense_Mutation_p.E56Q|EQTN_ENST00000380031.1_Missense_Mutation_p.E56Q	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	56					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.E56Q(1)									CCATTTTTCTCATTAGCAGGA	0.294																																						uc003zql.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(166-168)GAG>CAG		Acr formation associated factor isoform 1							86.0	82.0	84.0					9																	27296647		2201	4295	6496	SO:0001583	missense	54586					acrosomal membrane|integral to membrane		g.chr9:27296647C>G	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.166G>C	9.37:g.27296647C>G	ENSP00000369371:p.Glu56Gln					C9orf11_uc011lnq.1_Missense_Mutation_p.E56Q|C9orf11_uc003zqm.2_Missense_Mutation_p.E56Q	p.E56Q	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN		OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)	2	250	-			56			Vesicular (Potential).		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	c.166G>C	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739992	0.49045	.	.	ENSG00000120160	ENST00000537675;ENST00000380032;ENST00000380031	T;T;T	0.38722	1.12;1.12;1.12	4.25	2.36	0.29203	.	0.300219	0.24291	N	0.039818	T	0.49029	0.1533	L	0.46157	1.445	0.27214	N	0.959847	D;D;D	0.67145	0.996;0.996;0.996	P;D;P	0.65573	0.907;0.936;0.907	T	0.31503	-0.9941	10	0.66056	D	0.02	.	5.9159	0.19055	0.0:0.7023:0.1938:0.104	.	56;56;56	B7ZMK1;Q9NQ60-2;Q9NQ60	.;.;AFAF_HUMAN	Q	56	ENSP00000441630:E56Q;ENSP00000369371:E56Q;ENSP00000369370:E56Q	ENSP00000369370:E56Q	E	-	1	0	C9orf11	27286647	1.000000	0.71417	0.990000	0.47175	0.614000	0.37383	1.633000	0.37113	0.715000	0.32103	0.555000	0.69702	GAG		PASS	0.294	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		8	66	8	66	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34290194	34290194	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr9:34290194C>A	ENST00000402558.2	-	4	1129	c.1105G>T	c.(1105-1107)Gac>Tac	p.D369Y	KIF24_ENST00000379174.3_Intron|KIF24_ENST00000379166.2_Missense_Mutation_p.D369Y|KIF24_ENST00000345050.2_Intron			Q5T7B8	KIF24_HUMAN	kinesin family member 24	369	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D369Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTAGGAGGTCATAAAGCTGT	0.413																																						uc003zua.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1105-1107)GAC>TAC		kinesin family member 24							101.0	95.0	97.0					9																	34290194		1848	4094	5942	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34290194C>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1105G>T	9.37:g.34290194C>A	ENSP00000384433:p.Asp369Tyr					KIF24_uc010mkb.2_Missense_Mutation_p.D400Y	p.D369Y	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		5	1225	-			369			Kinesin-motor.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.1105G>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622143	0.87460	.	.	ENSG00000186638	ENST00000402558;ENST00000379166;ENST00000420188	T;T	0.56275	0.47;0.47	5.58	5.58	0.84498	Kinesin, motor domain (4);	.	.	.	.	D	0.87091	0.6091	H	0.99916	4.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93254	0.6637	9	0.87932	D	0	.	19.5687	0.95404	0.0:1.0:0.0:0.0	.	369;369	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	Y	369	ENSP00000384433:D369Y;ENSP00000368464:D369Y	ENSP00000368464:D369Y	D	-	1	0	KIF24	34280194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.805000	0.75191	2.640000	0.89533	0.491000	0.48974	GAC		PASS	0.413	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			16	73	16	73	---	---	---	---
CA9	768	broad.mit.edu	37	9	35675547	35675547	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr9:35675547G>A	ENST00000378357.4	+	2	520	c.416G>A	c.(415-417)aGt>aAt	p.S139N		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	139	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S139N(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GATGACCAGAGTCATTGGCGC	0.547																																						uc003zxo.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(415-417)AGT>AAT		carbonic anhydrase IX precursor							117.0	105.0	109.0					9																	35675547		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35675547G>A	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.416G>A	9.37:g.35675547G>A	ENSP00000367608:p.Ser139Asn					C9orf100_uc003zxl.2_RNA|CA9_uc003zxp.3_Missense_Mutation_p.S139N	p.S139N	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	458	+	all_epithelial(49;0.217)		139			Extracellular.|Catalytic.		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.416G>A	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271682	0.23221	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.65549	-0.16	4.95	-0.292	0.12839	Carbonic anhydrase, alpha-class, catalytic domain (3);	1.125740	0.06426	N	0.723168	T	0.52885	0.1762	L	0.58669	1.825	0.21445	N	0.999685	B;B	0.25772	0.134;0.036	B;B	0.27796	0.083;0.031	T	0.47911	-0.9080	10	0.46703	T	0.11	.	0.7547	0.00996	0.2834:0.1652:0.3812:0.1702	.	139;139	F5H404;Q16790	.;CAH9_HUMAN	N	139	ENSP00000367608:S139N	ENSP00000367608:S139N	S	+	2	0	CA9	35665547	0.493000	0.26035	0.944000	0.38274	0.184000	0.23303	0.644000	0.24766	0.274000	0.22072	0.462000	0.41574	AGT		PASS	0.547	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		30	16	30	16	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475644	120475644	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr9:120475644C>G	ENST00000355622.6	+	3	1339	c.1238C>G	c.(1237-1239)aCc>aGc	p.T413S	TLR4_ENST00000394487.4_Missense_Mutation_p.T373S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	413					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T413S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GGTGTTATTACCATGAGTTCA	0.378																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1237-1239)ACC>AGC		toll-like receptor 4 precursor							61.0	62.0	62.0					9																	120475644		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475644C>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1238C>G	9.37:g.120475644C>G	ENSP00000363089:p.Thr413Ser					TLR4_uc004bka.2_Missense_Mutation_p.T373S|TLR4_uc004bkb.2_Missense_Mutation_p.T213S	p.T413S	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1529	+			413			LRR 12.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1238C>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.733265	0.00687	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00864	5.6;5.6	5.7	-5.11	0.02901	.	2.029120	0.01701	N	0.027214	T	0.00496	0.0016	N	0.10629	0.01	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.45220	-0.9276	10	0.06757	T	0.87	.	1.0941	0.01669	0.1659:0.2305:0.2468:0.3567	.	413	O00206	TLR4_HUMAN	S	373;413	ENSP00000377997:T373S;ENSP00000363089:T413S	ENSP00000363089:T413S	T	+	2	0	TLR4	119515465	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-1.257000	0.02866	-1.002000	0.03429	-0.157000	0.13467	ACC		PASS	0.378	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		7	77	7	77	---	---	---	---
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr9:127790688C>A	ENST00000336505.6	-	5	454	c.396G>T	c.(394-396)caG>caT	p.Q132H	SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	132	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.Q155H(9)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338																																						uc004bpe.2																			9	Substitution - Missense(9)		prostate(4)|kidney(3)|lung(2)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(394-396)CAG>CAT		suppressor of cancer cell invasion isoform 2							102.0	98.0	99.0					9																	127790688		1845	4080	5925	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127790688C>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.396G>T	9.37:g.127790688C>A	ENSP00000336756:p.Gln132His					SCAI_uc004bpd.2_Missense_Mutation_p.Q155H|SCAI_uc010mwu.2_RNA	p.Q132H	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			5	477	-			132			Required for interaction with MKL1 (By similarity).|Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.396G>T	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068788	0.76301	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.57595	0.39;0.4	5.75	5.75	0.90469	.	0.103001	0.64402	D	0.000002	T	0.73426	0.3585	M	0.70275	2.135	0.53688	D	0.999974	D;D	0.65815	0.991;0.995	D;D	0.78314	0.991;0.989	T	0.74429	-0.3668	10	0.87932	D	0	-10.9266	19.2998	0.94140	0.0:1.0:0.0:0.0	.	132;155	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	H	132;155	ENSP00000336756:Q132H;ENSP00000362650:Q155H	ENSP00000336756:Q132H	Q	-	3	2	SCAI	126830509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.623000	0.46435	2.866000	0.98385	0.650000	0.86243	CAG		PASS	0.338	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		6	48	6	48	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135211885	135211885	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr9:135211885G>C	ENST00000224140.5	-	6	698	c.516C>G	c.(514-516)atC>atG	p.I172M	SETX_ENST00000372169.2_Missense_Mutation_p.I172M|SETX_ENST00000393220.1_Missense_Mutation_p.I172M	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	172					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.I172M(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTGCAGTCAAGATAGCCCAAC	0.348																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(514-516)ATC>ATG		senataxin							78.0	80.0	79.0					9																	135211885		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135211885G>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.516C>G	9.37:g.135211885G>C	ENSP00000224140:p.Ile172Met						p.I172M	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	6	699	-		Myeloproliferative disorder(178;0.204)	172					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.516C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078598	0.55753	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.85484	-1.99;-1.99;-1.99	5.9	2.28	0.28536	.	0.133750	0.48286	D	0.000197	D	0.85902	0.5805	L	0.29908	0.895	0.28991	N	0.888042	D	0.89917	1.0	D	0.87578	0.998	T	0.79790	-0.1655	10	0.87932	D	0	.	9.7453	0.40442	0.3427:0.0:0.6573:0.0	.	172	Q7Z333	SETX_HUMAN	M	172	ENSP00000224140:I172M;ENSP00000361242:I172M;ENSP00000376913:I172M	ENSP00000224140:I172M	I	-	3	3	SETX	134201706	0.992000	0.36948	1.000000	0.80357	0.981000	0.71138	0.157000	0.16402	0.684000	0.31448	0.650000	0.86243	ATC		PASS	0.348	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	47	7	47	---	---	---	---
SLC16A9	220963	broad.mit.edu	37	10	61432635	61432635	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr10:61432635G>T	ENST00000395348.3	-	3	869	c.233C>A	c.(232-234)gCa>gAa	p.A78E	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A78E	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	78					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.A78E(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GACAGGTCTTGCTCCAAAAGA	0.398																																						uc010qig.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(232-234)GCA>GAA		solute carrier family 16 (monocarboxylic acid							87.0	84.0	85.0					10																	61432635		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61432635G>T	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.233C>A	10.37:g.61432635G>T	ENSP00000378757:p.Ala78Glu						p.A78E	NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN			3	682	-			78			Extracellular (Potential).		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.233C>A	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792363	0.90453	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.81247	-1.47;-1.47	6.08	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.100207	0.64402	D	0.000002	D	0.85084	0.5616	L	0.52126	1.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	D	0.83705	0.0184	10	0.45353	T	0.12	.	11.776	0.51985	0.1345:0.0:0.8655:0.0	.	78	Q7RTY1	MOT9_HUMAN	E	78	ENSP00000378757:A78E;ENSP00000378756:A78E	ENSP00000378756:A78E	A	-	2	0	SLC16A9	61102641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.407000	0.73280	2.890000	0.99128	0.655000	0.94253	GCA		PASS	0.398	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		11	19	11	19	---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703038	88703038	+	Silent	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr10:88703038C>A	ENST00000372027.5	-	6	1824	c.1503G>T	c.(1501-1503)ctG>ctT	p.L501L	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	501					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L501L(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGATGACGTCCAGGTCTAAAT	0.642																																						uc001kea.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1501-1503)CTG>CTT		multimerin 2 precursor							62.0	57.0	59.0					10																	88703038		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88703038C>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1503G>T	10.37:g.88703038C>A						MMRN2_uc010qmn.1_Silent_p.L144L|MMRN2_uc009xtb.2_Silent_p.L458L	p.L501L	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			6	1630	-			501					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.1503G>T	CCDS7379.1																																																																																				PASS	0.642	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		9	33	9	33	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969026	5969026	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:5969026G>A	ENST00000329564.6	+	1	457	c.450G>A	c.(448-450)atG>atA	p.M150I	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M150I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCTGCCATGTTTATTTTGA	0.443																																						uc010qzt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)ATG>ATA		olfactory receptor, family 56, subfamily A,							145.0	144.0	144.0					11																	5969026		2197	4296	6493	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969026G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.450G>A	11.37:g.5969026G>A	ENSP00000331572:p.Met150Ile						p.M150I	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	450	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	150			Helical; Name=4; (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.450G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.491667	0.00161	.	.	ENSG00000184478	ENST00000329564	T	0.00051	8.81	5.13	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	1.441090	0.06332	N	0.706409	T	0.00039	0.0001	N	0.02120	-0.675	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35400	-0.9790	10	0.30854	T	0.27	0.7281	2.6978	0.05140	0.1636:0.3413:0.3191:0.176	.	150	Q8NH54	O56A3_HUMAN	I	150	ENSP00000331572:M150I	ENSP00000331572:M150I	M	+	3	0	OR56A3	5925602	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.746000	0.00009	-2.799000	0.00353	-1.877000	0.00547	ATG		PASS	0.443	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		9	101	9	101	---	---	---	---
CTR9	9646	broad.mit.edu	37	11	10794075	10794075	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:10794075C>T	ENST00000361367.2	+	20	2879	c.2453C>T	c.(2452-2454)tCt>tTt	p.S818F		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	818					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.S818F(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGCAGTGTTCTGACTTACTG	0.433																																						uc001mja.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2452-2454)TCT>TTT		SH2 domain binding protein 1							57.0	57.0	57.0					11																	10794075		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10794075C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2453C>T	11.37:g.10794075C>T	ENSP00000355013:p.Ser818Phe						p.S818F	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2602	+			818					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.2453C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901078	0.92035	.	.	ENSG00000198730	ENST00000361367	T	0.44881	0.91	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	L	0.59436	1.845	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.29119	-1.0022	10	0.52906	T	0.07	-16.2736	18.3196	0.90232	0.0:1.0:0.0:0.0	.	818	Q6PD62	CTR9_HUMAN	F	818	ENSP00000355013:S818F	ENSP00000355013:S818F	S	+	2	0	CTR9	10750651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.764000	0.94973	0.655000	0.94253	TCT		PASS	0.433	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		9	19	9	19	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371600	55371600	+	Missense_Mutation	SNP	G	G	A	rs570575344		TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:55371600G>A	ENST00000302231.4	-	1	274	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L84F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTTCAGAGAGAGCATCCACA	0.403													g|||	1	0.000199681	0.0	0.0	5008	,	,		14399	0.001		0.0	False		,,,				2504	0.0					uc010rii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)CTC>TTC		olfactory receptor, family 4, subfamily C,							85.0	78.0	81.0					11																	55371600		2176	4013	6189	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371600G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.250C>T	11.37:g.55371600G>A	ENSP00000306651:p.Leu84Phe						p.L84F	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	250	-			84			Extracellular (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.250C>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312368	0.05422	.	.	ENSG00000172188	ENST00000302231	T	0.01406	4.93	4.34	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	U	0.000542	T	0.01421	0.0046	L	0.46947	1.48	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.46105	-0.9215	10	0.44086	T	0.13	.	2.7595	0.05302	0.0915:0.1625:0.4113:0.3347	.	84	Q6IEV9	OR4CB_HUMAN	F	84	ENSP00000306651:L84F	ENSP00000306651:L84F	L	-	1	0	OR4C11	55128176	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.257000	0.08745	0.171000	0.19730	-0.349000	0.07799	CTC		PASS	0.403	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		32	29	32	29	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761723	55761723	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:55761723A>G	ENST00000278409.1	-	1	378	c.379T>C	c.(379-381)Tgt>Cgt	p.C127R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	127					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C127R(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCGGGCGACATATGGCCGCA	0.507																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(379-381)TGT>CGT		olfactory receptor, family 5, subfamily F,							62.0	62.0	62.0					11																	55761723		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761723A>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.379T>C	11.37:g.55761723A>G	ENSP00000278409:p.Cys127Arg						p.C127R	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	379	-	Esophageal squamous(21;0.00448)		127			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.379T>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.355781	0.24598	.	.	ENSG00000149133	ENST00000278409	T	0.06218	3.33	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28034	0.0691	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08554	-1.0716	9	0.87932	D	0	.	10.279	0.43528	1.0:0.0:0.0:0.0	.	127	O95221	OR5F1_HUMAN	R	127	ENSP00000278409:C127R	ENSP00000278409:C127R	C	-	1	0	OR5F1	55518299	0.988000	0.35896	0.714000	0.30535	0.029000	0.11900	3.517000	0.53443	1.167000	0.42706	0.247000	0.18012	TGT		PASS	0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		11	54	11	54	---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57576856	57576856	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:57576856G>C	ENST00000399050.4	+	15	2889	c.2353G>C	c.(2353-2355)Gtt>Ctt	p.V785L	CTNND1_ENST00000532245.1_Missense_Mutation_p.V678L|CTNND1_ENST00000532649.1_Missense_Mutation_p.V725L|CTNND1_ENST00000526357.1_Missense_Mutation_p.V725L|CTNND1_ENST00000534579.1_Missense_Mutation_p.V725L|CTNND1_ENST00000415361.2_Missense_Mutation_p.V684L|CTNND1_ENST00000532844.1_Missense_Mutation_p.V731L|CTNND1_ENST00000525902.1_Missense_Mutation_p.V462L|CTNND1_ENST00000524630.1_Missense_Mutation_p.V779L|CTNND1_ENST00000526772.1_Missense_Mutation_p.V456L|CTNND1_ENST00000399039.4_Missense_Mutation_p.V785L|CTNND1_ENST00000530748.1_Missense_Mutation_p.V731L|CTNND1_ENST00000527467.1_Missense_Mutation_p.V462L|CTNND1_ENST00000361391.6_Missense_Mutation_p.V779L|CTNND1_ENST00000528232.1_Missense_Mutation_p.V684L|CTNND1_ENST00000361796.4_Missense_Mutation_p.V779L|CTNND1_ENST00000360682.6_Missense_Mutation_p.V785L|CTNND1_ENST00000526938.1_Missense_Mutation_p.V785L|CTNND1_ENST00000528621.1_Missense_Mutation_p.V725L|CTNND1_ENST00000358694.6_Missense_Mutation_p.V779L|CTNND1_ENST00000529526.1_Missense_Mutation_p.V725L|CTNND1_ENST00000529919.1_Missense_Mutation_p.V785L|CTNND1_ENST00000428599.2_Missense_Mutation_p.V779L|CTNND1_ENST00000532463.1_Missense_Mutation_p.V678L|CTNND1_ENST00000426142.2_Missense_Mutation_p.V678L|CTNND1_ENST00000532787.1_Missense_Mutation_p.V678L|CTNND1_ENST00000529873.1_Missense_Mutation_p.V725L|CTNND1_ENST00000361332.4_Missense_Mutation_p.V779L|CTNND1_ENST00000529986.1_Missense_Mutation_p.V678L|CTNND1_ENST00000533667.1_Missense_Mutation_p.V456L|CTNND1_ENST00000530094.1_Missense_Mutation_p.V678L|CTNND1_ENST00000531014.1_Missense_Mutation_p.V456L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	785					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.V785L(1)|p.V779L(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TATCAACGAGGTTATCGCTGA	0.443																																						uc001nmc.3																			2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(1)|kidney(1)	6						c.(2353-2355)GTT>CTT		catenin, delta 1 isoform 1ABC							88.0	89.0	89.0					11																	57576856		1886	4100	5986	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57576856G>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2353G>C	11.37:g.57576856G>C	ENSP00000382004:p.Val785Leu					CTNND1_uc001nlh.1_Missense_Mutation_p.V785L|CTNND1_uc001nlu.3_Missense_Mutation_p.V678L|CTNND1_uc001nlt.3_Missense_Mutation_p.V678L|CTNND1_uc001nls.3_Missense_Mutation_p.V678L|CTNND1_uc001nlw.3_Missense_Mutation_p.V678L|CTNND1_uc001nmf.3_Missense_Mutation_p.V785L|CTNND1_uc001nmd.3_Missense_Mutation_p.V731L|CTNND1_uc001nlk.3_Missense_Mutation_p.V731L|CTNND1_uc001nme.3_Missense_Mutation_p.V779L|CTNND1_uc001nll.3_Missense_Mutation_p.V725L|CTNND1_uc001nmg.3_Missense_Mutation_p.V725L|CTNND1_uc001nlj.3_Missense_Mutation_p.V725L|CTNND1_uc001nlr.3_Missense_Mutation_p.V725L|CTNND1_uc001nlp.3_Missense_Mutation_p.V725L|CTNND1_uc001nlx.3_Missense_Mutation_p.V462L|CTNND1_uc001nlz.3_Missense_Mutation_p.V462L|CTNND1_uc009ymn.2_Missense_Mutation_p.V456L|CTNND1_uc001nlm.3_Missense_Mutation_p.V779L|CTNND1_uc001nly.3_Missense_Mutation_p.V456L|CTNND1_uc001nmb.3_Missense_Mutation_p.V456L|CTNND1_uc001nma.3_Missense_Mutation_p.V456L|CTNND1_uc001nmi.3_Missense_Mutation_p.V684L|CTNND1_uc001nmh.3_Missense_Mutation_p.V779L|CTNND1_uc001nlq.3_Missense_Mutation_p.V684L|CTNND1_uc001nln.3_Missense_Mutation_p.V779L|CTNND1_uc001nli.3_Missense_Mutation_p.V779L|CTNND1_uc001nlo.3_Missense_Mutation_p.V678L|CTNND1_uc001nlv.3_Missense_Mutation_p.V678L	p.V785L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			15	2924	+		all_epithelial(135;0.155)	785			ARM 10.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.2353G>C	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944644	0.73672	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D;D;D;P;D;D	0.67145	0.996;0.996;0.994;0.996;0.996;0.996;0.46;0.996;0.994	D;D;D;D;D;D;B;D;D	0.77557	0.99;0.99;0.978;0.99;0.99;0.99;0.209;0.99;0.978	T	0.53114	-0.8484	10	0.72032	D	0.01	-3.0218	19.4356	0.94792	0.0:0.0:1.0:0.0	.	785;779;785;678;725;725;779;785;785	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	L	779;785;785;785;779;725;678;785;779;779;678;678;779;678;456;725;725;731;779;462;684;456;456;725;462;731;725;678;684;678;725;785	ENSP00000436543:V779L;ENSP00000434808:V785L;ENSP00000381996:V785L;ENSP00000353902:V785L;ENSP00000354907:V779L;ENSP00000436323:V725L;ENSP00000409930:V678L;ENSP00000382004:V785L;ENSP00000354785:V779L;ENSP00000354823:V779L;ENSP00000432075:V678L;ENSP00000437156:V678L;ENSP00000351527:V779L;ENSP00000434949:V678L;ENSP00000437051:V456L;ENSP00000435379:V725L;ENSP00000432243:V725L;ENSP00000436744:V731L;ENSP00000413586:V779L;ENSP00000434900:V462L;ENSP00000435266:V684L;ENSP00000432623:V456L;ENSP00000433158:V456L;ENSP00000435494:V725L;ENSP00000434672:V462L;ENSP00000433276:V731L;ENSP00000433334:V725L;ENSP00000437327:V678L;ENSP00000403518:V684L;ENSP00000434017:V678L;ENSP00000435789:V725L;ENSP00000432041:V785L	ENSP00000351527:V779L	V	+	1	0	CTNND1	57333432	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.251000	0.65438	2.692000	0.91855	0.655000	0.94253	GTT		PASS	0.443	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		15	31	15	31	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75727967	75727967	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:75727967G>T	ENST00000356136.3	+	12	1410	c.1169G>T	c.(1168-1170)gGg>gTg	p.G390V	UVRAG_ENST00000532130.1_Missense_Mutation_p.G18V|UVRAG_ENST00000528420.1_Missense_Mutation_p.G289V|UVRAG_ENST00000531818.1_Missense_Mutation_p.G18V|UVRAG_ENST00000533454.1_Missense_Mutation_p.G18V|UVRAG_ENST00000539288.1_Missense_Mutation_p.G18V	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	390					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.G390V(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATTCATAAGGGGTCTAGATCA	0.373																																						uc001oxc.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|lung(2)	6						c.(1168-1170)GGG>GTG		UV radiation resistance associated							113.0	106.0	108.0					11																	75727967		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75727967G>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1169G>T	11.37:g.75727967G>T	ENSP00000348455:p.Gly390Val					UVRAG_uc010rrw.1_Missense_Mutation_p.G289V|UVRAG_uc001oxd.2_Missense_Mutation_p.G18V|UVRAG_uc010rrx.1_Missense_Mutation_p.G18V|UVRAG_uc009yuh.1_RNA	p.G390V	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			12	1410	+			390					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1169G>T	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401944	0.83120	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.32753	1.44;1.44	4.6	4.6	0.57074	.	0.151754	0.64402	D	0.000016	T	0.58637	0.2136	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65158	-0.6236	10	0.72032	D	0.01	-13.8722	16.59	0.84762	0.0:0.0:1.0:0.0	.	390	Q9P2Y5	UVRAG_HUMAN	V	390;289;18;18;18;18	ENSP00000348455:G390V;ENSP00000436039:G289V	ENSP00000348455:G390V	G	+	2	0	UVRAG	75405615	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.392000	0.81423	0.585000	0.79938	GGG		PASS	0.373	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		15	60	15	60	---	---	---	---
MSANTD4	84437	broad.mit.edu	37	11	105880459	105880459	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:105880459C>T	ENST00000301919.4	-	3	2256	c.841G>A	c.(841-843)Ggt>Agt	p.G281S	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	281						nucleus (GO:0005634)		p.G281S(1)									TCTCCTTGACCAAGTTCATTT	0.438																																						uc001piy.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(841-843)GGT>AGT		hypothetical protein LOC84437							157.0	146.0	150.0					11																	105880459		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880459C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.841G>A	11.37:g.105880459C>T	ENSP00000304713:p.Gly281Ser					KIAA1826_uc001piz.2_Missense_Mutation_p.G281S	p.G281S	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	1014	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	281			Potential.		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.841G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	5.949	0.359018	0.11239	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.45	4.53	0.55603	.	0.257437	0.36972	N	0.002309	T	0.23965	0.0580	N	0.14661	0.345	0.20489	N	0.999895	B	0.10296	0.003	B	0.06405	0.002	T	0.08617	-1.0713	9	0.23891	T	0.37	-15.1896	10.2634	0.43441	0.0:0.8308:0.0:0.1692	.	281	Q8NCY6	K1826_HUMAN	S	281	.	ENSP00000304713:G281S	G	-	1	0	KIAA1826	105385669	0.132000	0.22450	0.186000	0.23195	0.279000	0.26890	1.278000	0.33179	2.552000	0.86080	0.491000	0.48974	GGT		PASS	0.438	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		39	128	39	128	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108382977	108382977	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:108382977G>A	ENST00000265843.4	-	6	3367	c.3257C>T	c.(3256-3258)tCa>tTa	p.S1086L	EXPH5_ENST00000443411.1_Missense_Mutation_p.S898L|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1010L|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1079L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1086					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.S1086L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGCTGAGTCTGAAAGGACTTT	0.413																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(3256-3258)TCA>TTA		exophilin 5 isoform a							115.0	118.0	117.0					11																	108382977		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382977G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3257C>T	11.37:g.108382977G>A	ENSP00000265843:p.Ser1086Leu					EXPH5_uc010rvy.1_Missense_Mutation_p.S898L|EXPH5_uc010rvz.1_Missense_Mutation_p.S930L|EXPH5_uc010rwa.1_Missense_Mutation_p.S1010L	p.S1086L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3368	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1086					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3257C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436071	0.25813	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05319	4.07;4.0;3.85;4.07;3.9;3.46	5.4	0.864	0.19068	.	1.214810	0.05809	N	0.613682	T	0.08846	0.0219	M	0.63428	1.95	0.09310	N	1	B	0.29988	0.264	B	0.24006	0.05	T	0.37641	-0.9697	10	0.46703	T	0.11	-0.9459	8.1002	0.30852	0.3897:0.0:0.6103:0.0	.	1086	Q8NEV8	EXPH5_HUMAN	L	1086;1010;898;1079;1010;898	ENSP00000265843:S1086L;ENSP00000391966:S1010L;ENSP00000411390:S898L;ENSP00000432546:S1079L;ENSP00000432683:S1010L;ENSP00000446434:S898L	ENSP00000265843:S1086L	S	-	2	0	EXPH5	107888187	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	0.826000	0.27407	0.268000	0.21939	-0.768000	0.03414	TCA		PASS	0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		20	61	20	61	---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113283341	113283341	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:113283341T>C	ENST00000362072.3	-	7	1419	c.1075A>G	c.(1075-1077)Agc>Ggc	p.S359G	DRD2_ENST00000346454.3_Missense_Mutation_p.S330G|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.S359G|DRD2_ENST00000355319.2_Missense_Mutation_p.S361G|DRD2_ENST00000544518.1_Missense_Mutation_p.S358G|DRD2_ENST00000538967.1_Missense_Mutation_p.S361G|RP11-159N11.3_ENST00000546284.1_RNA	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	359	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.S359G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCCTACGGCTCATGGTCTTG	0.567																																						uc001pnz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1075-1077)AGC>GGC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						151.0	129.0	137.0					11																	113283341		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283341T>C	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1075A>G	11.37:g.113283341T>C	ENSP00000354859:p.Ser359Gly					DRD2_uc010rwv.1_Missense_Mutation_p.S358G|DRD2_uc001poa.3_Missense_Mutation_p.S359G|DRD2_uc001pob.3_Missense_Mutation_p.S330G	p.S359G	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1396	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	359			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.1075A>G	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198698	0.58126	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.73363	-0.74;1.12;-0.74;-0.74;-0.74;-0.74	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.101272	0.85682	D	0.000000	T	0.74183	0.3683	M	0.69248	2.105	0.46298	D	0.998974	B;B;B	0.33807	0.426;0.203;0.132	B;B;B	0.35727	0.209;0.098;0.158	T	0.71889	-0.4456	10	0.29301	T	0.29	.	16.4504	0.83984	0.0:0.0:0.0:1.0	.	358;330;359	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	G	361;330;359;358;359;361	ENSP00000347474:S361G;ENSP00000278597:S330G;ENSP00000354859:S359G;ENSP00000441068:S358G;ENSP00000442172:S359G;ENSP00000438215:S361G	ENSP00000278597:S330G	S	-	1	0	DRD2	112788551	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.289000	0.72696	2.288000	0.76882	0.533000	0.62120	AGC		PASS	0.567	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		3	60	3	60	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122930469	122930469	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:122930469T>G	ENST00000532636.1	-	5	951	c.832A>C	c.(832-834)Acc>Ccc	p.T278P	HSPA8_ENST00000533540.1_Missense_Mutation_p.T132P|HSPA8_ENST00000526110.1_Missense_Mutation_p.T259P|HSPA8_ENST00000453788.2_Missense_Mutation_p.T278P|HSPA8_ENST00000227378.3_Missense_Mutation_p.T278P|HSPA8_ENST00000534319.1_Missense_Mutation_p.T42P|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.T278P|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'UTR|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	278	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.T278P(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTGGCCTGGGTGCTGGAAGAG	0.488																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(1)	8						c.(832-834)ACC>CCC		heat shock 70kDa protein 8 isoform 1							67.0	60.0	63.0					11																	122930469		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930469T>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.832A>C	11.37:g.122930469T>G	ENSP00000437125:p.Thr278Pro					HSPA8_uc009zbc.2_Missense_Mutation_p.T42P|HSPA8_uc001pyp.2_Missense_Mutation_p.T278P|HSPA8_uc010rzu.1_Missense_Mutation_p.T201P|HSPA8_uc009zbd.1_Missense_Mutation_p.T278P	p.T278P	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	910	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	278			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.832A>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839626	0.91117	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01209	5.17;5.17;5.17;5.17;5.17;5.17;5.17;5.17	4.74	4.74	0.60224	.	0.054720	0.64402	D	0.000002	T	0.05318	0.0141	M	0.82923	2.615	0.80722	D	1	P;P;P;P	0.46327	0.876;0.789;0.749;0.876	P;B;B;P	0.52909	0.713;0.248;0.16;0.713	T	0.04930	-1.0917	10	0.87932	D	0	-20.3858	14.5188	0.67838	0.0:0.0:0.0:1.0	.	278;278;278;278	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	P	278;132;278;278;278;42;259;218	ENSP00000437125:T278P;ENSP00000437189:T132P;ENSP00000432083:T278P;ENSP00000404372:T278P;ENSP00000227378:T278P;ENSP00000433316:T42P;ENSP00000433584:T259P;ENSP00000432884:T218P	ENSP00000227378:T278P	T	-	1	0	HSPA8	122435679	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.095000	0.71439	1.884000	0.54569	0.459000	0.35465	ACC		PASS	0.488	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			3	36	3	36	---	---	---	---
CDON	50937	broad.mit.edu	37	11	125864259	125864259	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr11:125864259G>A	ENST00000392693.3	-	14	2697	c.2570C>T	c.(2569-2571)aCt>aTt	p.T857I	CDON_ENST00000531738.1_Missense_Mutation_p.T234I|CDON_ENST00000263577.7_Missense_Mutation_p.T857I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	857	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T857I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTGAATGGGAGTGTTATTGTT	0.353																																						uc009zbw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(2569-2571)ACT>ATT		surface glycoprotein, Ig superfamily member							104.0	97.0	99.0					11																	125864259		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125864259G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2570C>T	11.37:g.125864259G>A	ENSP00000376458:p.Thr857Ile					CDON_uc001qdb.3_Missense_Mutation_p.T234I|CDON_uc001qdc.3_Missense_Mutation_p.T857I	p.T857I	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	14	2698	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	857			Extracellular (Potential).|Fibronectin type-III 3.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2570C>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776814	0.90195	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.56941	0.43;0.43;0.43	5.56	5.56	0.83823	Fibronectin, type III (4);	0.000000	0.56097	D	0.000036	T	0.70307	0.3209	L	0.55481	1.735	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	T	0.70353	-0.4895	10	0.62326	D	0.03	-27.4134	19.4995	0.95089	0.0:0.0:1.0:0.0	.	857;857;234	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	I	857;234;857	ENSP00000376458:T857I;ENSP00000432901:T234I;ENSP00000263577:T857I	ENSP00000263577:T857I	T	-	2	0	CDON	125369469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.334000	0.96470	2.777000	0.95525	0.591000	0.81541	ACT		PASS	0.353	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		6	27	6	27	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5722118	5722118	+	Silent	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:5722118C>A	ENST00000356134.5	-	20	2009	c.1938G>T	c.(1936-1938)gtG>gtT	p.V646V	ANO2_ENST00000327087.8_Silent_p.V645V|ANO2_ENST00000546188.1_Silent_p.V646V	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	650					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V645V(1)|p.V646V(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGGCCTGCCCACAAACCTGA	0.532																																						uc001qnm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1933-1935)GTG>GTT		anoctamin 2							101.0	104.0	103.0					12																	5722118		2037	4189	6226	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5722118C>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1938G>T	12.37:g.5722118C>A							p.V645V	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			19	2007	-			650			Extracellular (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.1935G>T																																																																																					PASS	0.532	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		10	38	10	38	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14578137	14578137	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:14578137A>G	ENST00000540793.1	+	1	1443	c.1288A>G	c.(1288-1290)Atg>Gtg	p.M430V	ATF7IP_ENST00000544627.1_Missense_Mutation_p.M438V|ATF7IP_ENST00000536444.1_Missense_Mutation_p.M430V|ATF7IP_ENST00000543189.1_Missense_Mutation_p.M430V|ATF7IP_ENST00000261168.4_Missense_Mutation_p.M430V|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	430	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.M430V(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACAGACTCTATGGAGACAGA	0.333																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(1288-1290)ATG>GTG		activating transcription factor 7 interacting							61.0	63.0	62.0					12																	14578137		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14578137A>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1288A>G	12.37:g.14578137A>G	ENSP00000444589:p.Met430Val					ATF7IP_uc010shs.1_Missense_Mutation_p.M430V|ATF7IP_uc001rbu.2_Missense_Mutation_p.M430V|ATF7IP_uc001rbv.1_Missense_Mutation_p.M430V|ATF7IP_uc001rbx.2_Missense_Mutation_p.M430V|ATF7IP_uc010sht.1_Missense_Mutation_p.M430V|ATF7IP_uc001rby.3_Missense_Mutation_p.M430V|ATF7IP_uc001rbz.1_Missense_Mutation_p.M430V|ATF7IP_uc001rca.2_Missense_Mutation_p.M430V|ATF7IP_uc001rcb.2_Missense_Mutation_p.M41V	p.M430V	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			2	1446	+			430			Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1288A>G	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946480	0.73672	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.41065	1.49;1.47;1.49;1.49;1.01;1.49	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.61337	0.2339	L	0.59436	1.845	0.42961	D	0.994404	D;D;D;D;D;D;D	0.71674	0.982;0.998;0.996;0.974;0.974;0.998;0.998	D;D;D;D;D;D;D	0.78314	0.961;0.991;0.98;0.969;0.969;0.987;0.987	T	0.65340	-0.6192	10	0.87932	D	0	-18.115	15.639	0.76981	1.0:0.0:0.0:0.0	.	438;430;438;430;430;430;41	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	V	430;430;430;438;430;430	ENSP00000261168:M430V;ENSP00000443179:M430V;ENSP00000445955:M430V;ENSP00000440440:M438V;ENSP00000379575:M430V;ENSP00000444589:M430V	ENSP00000261168:M430V	M	+	1	0	ATF7IP	14469404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.698000	0.61789	2.140000	0.66376	0.482000	0.46254	ATG		PASS	0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		16	44	16	44	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23696276	23696276	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:23696276C>T	ENST00000451604.2	-	13	1741	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q	SOX5_ENST00000396007.2_Missense_Mutation_p.R161Q|SOX5_ENST00000541536.1_Missense_Mutation_p.R426Q|SOX5_ENST00000546136.1_Missense_Mutation_p.R534Q|SOX5_ENST00000309359.1_Missense_Mutation_p.R534Q|SOX5_ENST00000545921.1_Missense_Mutation_p.R537Q|SOX5_ENST00000537393.1_Missense_Mutation_p.R512Q|SOX5_ENST00000381381.2_Missense_Mutation_p.R426Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	547					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R547L(1)|p.R547Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCACGCCCTCGGGATTCCCT	0.453																																						uc001rfw.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)	6						c.(1639-1641)CGA>CAA		SRY (sex determining region Y)-box 5 isoform a							146.0	134.0	138.0					12																	23696276		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696276C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1640G>A	12.37:g.23696276C>T	ENSP00000398273:p.Arg547Gln					SOX5_uc001rfx.2_Missense_Mutation_p.R534Q|SOX5_uc001rfy.2_Missense_Mutation_p.R426Q|SOX5_uc001rfv.2_Missense_Mutation_p.R161Q|SOX5_uc010siv.1_Missense_Mutation_p.R534Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.R499Q	p.R547Q	NM_006940	NP_008871	P35711	SOX5_HUMAN			13	1742	-			547					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1640G>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	37	6.125915	0.97305	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.97642	-4.45;-4.45;-4.37;-4.45;-4.47;-4.37;-4.41;-4.46	6.17	6.17	0.99709	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.58428	1.81	0.47308	D	0.999385	D;D;D;D	0.89917	1.0;0.997;1.0;0.999	D;D;D;D	0.81914	0.995;0.947;0.994;0.99	D	0.98393	1.0564	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	512;426;547;161	F5H0I3;P35711-4;P35711;P35711-3	.;.;SOX5_HUMAN;.	Q	534;534;426;547;499;512;426;161;537	ENSP00000437487:R534Q;ENSP00000308927:R534Q;ENSP00000370788:R426Q;ENSP00000398273:R547Q;ENSP00000439832:R512Q;ENSP00000441973:R426Q;ENSP00000379328:R161Q;ENSP00000443520:R537Q	ENSP00000308927:R534Q	R	-	2	0	SOX5	23587543	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	7.805000	0.86005	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.453	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		34	82	34	82	---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50571710	50571710	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:50571710C>G	ENST00000341247.4	-	11	1566	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	LIMA1_ENST00000552491.1_Missense_Mutation_p.E170Q|LIMA1_ENST00000552783.1_Missense_Mutation_p.E314Q|LIMA1_ENST00000547825.1_Missense_Mutation_p.E171Q|LIMA1_ENST00000552909.1_Missense_Mutation_p.E312Q|LIMA1_ENST00000394943.3_Missense_Mutation_p.E474Q|LIMA1_ENST00000552823.1_Missense_Mutation_p.E313Q	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	473					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.E473Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCCAAAATCTCTTCGTTTTCA	0.498																																						uc001rwj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1417-1419)GAG>CAG		LIM domain and actin binding 1 isoform b							171.0	168.0	169.0					12																	50571710		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571710C>G	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1417G>C	12.37:g.50571710C>G	ENSP00000340184:p.Glu473Gln					LIMA1_uc001rwg.3_Missense_Mutation_p.E171Q|LIMA1_uc001rwh.3_Missense_Mutation_p.E312Q|LIMA1_uc001rwi.3_Missense_Mutation_p.E314Q|LIMA1_uc001rwk.3_Missense_Mutation_p.E474Q|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.E473Q	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	1591	-			473					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.1417G>C	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074048	0.55646	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.86164	-1.31;-1.3;-1.66;-2.08;-1.35;-1.66;-1.67	5.52	5.52	0.82312	.	0.189361	0.53938	D	0.000042	D	0.87811	0.6271	M	0.63843	1.955	0.44254	D	0.997104	P;P;P	0.41366	0.493;0.58;0.747	B;B;B	0.41466	0.314;0.188;0.358	D	0.88204	0.2886	10	0.54805	T	0.06	.	19.8097	0.96542	0.0:1.0:0.0:0.0	.	483;473;312	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	Q	170;171;313;474;473;314;312;392	ENSP00000448463:E170Q;ENSP00000448706:E171Q;ENSP00000450266:E313Q;ENSP00000378400:E474Q;ENSP00000340184:E473Q;ENSP00000448779:E314Q;ENSP00000450087:E312Q	ENSP00000340184:E473Q	E	-	1	0	LIMA1	48857977	1.000000	0.71417	0.948000	0.38648	0.731000	0.41821	4.055000	0.57441	2.745000	0.94114	0.650000	0.86243	GAG		PASS	0.498	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		7	119	7	119	---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52885385	52885385	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:52885385C>T	ENST00000330722.6	-	2	744	c.676G>A	c.(676-678)Gac>Aac	p.D226N		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	226	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.D226N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACAATGCTGTCCAGCTGCCTC	0.562																																						uc001sam.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(676-678)GAC>AAC		keratin 6A							118.0	114.0	115.0					12																	52885385		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52885385C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.676G>A	12.37:g.52885385C>T	ENSP00000369317:p.Asp226Asn						p.D226N	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	885	-			226			Coil 1B.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.676G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	33	5.273473	0.95459	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.79352	-1.26	5.26	4.35	0.52113	Filament (1);	0.194061	0.35646	N	0.003068	D	0.82995	0.5158	M	0.87827	2.91	0.41513	D	0.988354	P	0.40211	0.707	B	0.43867	0.434	D	0.85591	0.1246	10	0.56958	D	0.05	.	14.5557	0.68100	0.0:0.9282:0.0:0.0718	.	226	P02538	K2C6A_HUMAN	N	226;182	ENSP00000369317:D226N	ENSP00000369317:D226N	D	-	1	0	KRT6A	51171652	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	4.790000	0.62453	1.319000	0.45190	0.561000	0.74099	GAC		PASS	0.562	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		23	75	23	75	---	---	---	---
KRT4	3851	broad.mit.edu	37	12	53201458	53201458	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:53201458T>C	ENST00000551956.1	-	7	1808	c.1316A>G	c.(1315-1317)tAc>tGc	p.Y439C	KRT4_ENST00000458244.2_Missense_Mutation_p.Y419C|KRT4_ENST00000293774.4_Missense_Mutation_p.Y513C			P19013	K2C4_HUMAN	keratin 4	453	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.Y513C(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAGTTTGCGGTAGGTGGCGAT	0.592																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1537-1539)TAC>TGC		keratin 4							127.0	121.0	123.0					12																	53201458		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53201458T>C		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1316A>G	12.37:g.53201458T>C	ENSP00000448220:p.Tyr439Cys						p.Y513C	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			7	1809	-			439					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1538A>G	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201732	0.58234	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.97186	-4.28;-4.28;-4.28	5.47	5.47	0.80525	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.43260	D	0.000587	D	0.99174	0.9714	H	0.98802	4.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98850	1.0758	10	0.87932	D	0	.	15.8595	0.79012	0.0:0.0:0.0:1.0	.	453	P19013	K2C4_HUMAN	C	439;513;419	ENSP00000448220:Y439C;ENSP00000293774:Y513C;ENSP00000387904:Y419C	ENSP00000293774:Y513C	Y	-	2	0	KRT4	51487725	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	8.040000	0.89188	2.216000	0.71823	0.459000	0.35465	TAC		PASS	0.592	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		14	72	14	72	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57588840	57588840	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:57588840G>A	ENST00000243077.3	+	51	8730	c.8264G>A	c.(8263-8265)gGc>gAc	p.G2755D	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2755	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.G2755D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGTGACGGCAGCGATGAC	0.607																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(8263-8265)GGC>GAC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						98.0	106.0	103.0					12																	57588840		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588840G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8264G>A	12.37:g.57588840G>A	ENSP00000243077:p.Gly2755Asp						p.G2755D	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	51	8730	+			2755			Extracellular (Potential).|LDL-receptor class A 16.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8264G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253108	0.80135	.	.	ENSG00000123384	ENST00000243077	D	0.96830	-4.14	4.93	4.93	0.64822	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.97673	0.9237	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98083	1.0405	10	0.59425	D	0.04	.	17.0771	0.86589	0.0:0.0:1.0:0.0	.	2755	Q07954	LRP1_HUMAN	D	2755	ENSP00000243077:G2755D	ENSP00000243077:G2755D	G	+	2	0	LRP1	55875107	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.620000	0.98373	2.551000	0.86045	0.455000	0.32223	GGC		PASS	0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		28	56	28	56	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77239571	77239571	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:77239571G>C	ENST00000426126.2	+	13	2061	c.1412G>C	c.(1411-1413)gGt>gCt	p.G471A	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.G471A|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	471					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.G471A(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CCATGGGTGGGTAACTGTGTA	0.343																																						uc001syk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1411-1413)GGT>GCT		huntingtin interacting protein 14							176.0	174.0	175.0					12																	77239571		1863	4100	5963	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77239571G>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1412G>C	12.37:g.77239571G>C	ENSP00000403397:p.Gly471Ala						p.G471A	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			13	1575	+			471			Cytoplasmic (Potential).|DHHC-type.		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1412G>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165310	0.57476	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.26957	1.7;1.7	5.48	4.59	0.56863	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.138938	0.64402	D	0.000004	T	0.22936	0.0554	L	0.41573	1.285	0.80722	D	1	B	0.25105	0.118	B	0.29353	0.101	T	0.03651	-1.1016	10	0.18276	T	0.48	-11.7786	14.5638	0.68159	0.0707:0.0:0.9293:0.0	.	471	Q8IUH5	ZDH17_HUMAN	A	471	ENSP00000403397:G471A;ENSP00000334868:G471A	ENSP00000334868:G471A	G	+	2	0	ZDHHC17	75763702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.638000	0.98445	1.445000	0.47624	0.650000	0.86243	GGT		PASS	0.343	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	83	3	83	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117768176	117768176	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:117768176C>T	ENST00000338101.4	-	1	703	c.699G>A	c.(697-699)atG>atA	p.M233I	NOS1_ENST00000344089.3_Missense_Mutation_p.M233I|NOS1_ENST00000317775.6_Missense_Mutation_p.M233I|NOS1_ENST00000549189.1_5'Flank			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.M233I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCATATCTTTCATCTCTGCCT	0.547																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(697-699)ATG>ATA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						106.0	111.0	109.0					12																	117768176		2053	4216	6269	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768176C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.699G>A	12.37:g.117768176C>T	ENSP00000337459:p.Met233Ile						p.M233I	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1385	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		233			PIN (nNOS-inhibiting protein) binding.			Missense_Mutation	SNP	ENST00000338101.4	37	c.699G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803690	0.31869	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05139	5.06;3.49;5.06	4.65	-3.11	0.05299	.	0.346678	0.35585	N	0.003103	T	0.02533	0.0077	N	0.08118	0	0.24714	N	0.993182	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	10	0.36615	T	0.2	-3.3256	6.5874	0.22628	0.0:0.2454:0.1323:0.6223	.	233	P29475	NOS1_HUMAN	I	233	ENSP00000320758:M233I;ENSP00000339862:M233I;ENSP00000337459:M233I	ENSP00000320758:M233I	M	-	3	0	NOS1	116252559	0.954000	0.32549	0.070000	0.20053	0.832000	0.47134	0.057000	0.14279	-0.486000	0.06744	0.484000	0.47621	ATG		PASS	0.547	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			13	71	13	71	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119916931	119916931	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr12:119916931G>A	ENST00000327554.2	+	4	839	c.374G>A	c.(373-375)gGa>gAa	p.G125E	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	125								p.G125E(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAGACACTGGGAGCTAGAGTC	0.483																																						uc001txe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(373-375)GGA>GAA		coiled-coil domain containing 60							213.0	163.0	180.0					12																	119916931		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119916931G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.374G>A	12.37:g.119916931G>A	ENSP00000333374:p.Gly125Glu					uc001txf.2_Intron	p.G125E	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	4	839	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		125						Missense_Mutation	SNP	ENST00000327554.2	37	c.374G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	0.542	-0.853327	0.02630	.	.	ENSG00000183273	ENST00000327554	T	0.20069	2.1	4.44	-3.03	0.05429	.	0.802256	0.10843	N	0.628021	T	0.08802	0.0218	N	0.17674	0.51	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.34428	-0.9829	9	.	.	.	-2.851	1.4176	0.02305	0.163:0.1373:0.2341:0.4656	.	125	Q8IWA6	CCD60_HUMAN	E	125	ENSP00000333374:G125E	.	G	+	2	0	CCDC60	118401314	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.276000	0.08514	-0.314000	0.08716	0.650000	0.86243	GGA		PASS	0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		11	31	11	31	---	---	---	---
ZDHHC20	253832	broad.mit.edu	37	13	21965981	21965981	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr13:21965981C>T	ENST00000400590.3	-	8	805	c.607G>A	c.(607-609)Gat>Aat	p.D203N	ZDHHC20_ENST00000320220.9_Missense_Mutation_p.D203N|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.D203N|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.D140N|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.D203N|ZDHHC20_ENST00000494731.1_5'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	203					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.D203N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GCACGTGTATCTGTCAGTTCA	0.358																																						uc001uob.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(607-609)GAT>AAT		zinc finger, DHHC-type containing 20							45.0	42.0	43.0					13																	21965981		1844	4094	5938	SO:0001583	missense	253832					integral to membrane	acyltransferase activity|zinc ion binding	g.chr13:21965981C>T	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.607G>A	13.37:g.21965981C>T	ENSP00000383433:p.Asp203Asn					ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Missense_Mutation_p.D140N	p.D203N	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	8	720	-		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	203					A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	ENST00000400590.3	37	c.607G>A		.	.	.	.	.	.	.	.	.	.	C	14.88	2.667711	0.47677	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.25	4.39	0.52855	.	0.632495	0.16975	N	0.191939	T	0.17152	0.0412	N	0.16166	0.38	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.19666	0.026;0.005	T	0.05971	-1.0853	10	0.28530	T	0.3	-5.8401	14.7564	0.69567	0.0:0.9266:0.0:0.0734	.	140;203	B4DRN8;Q5W0Z9-3	.;.	N	203;203;203;140;203	ENSP00000383433:D203N;ENSP00000313583:D203N;ENSP00000371905:D203N;ENSP00000443236:D140N;ENSP00000401232:D203N	ENSP00000313583:D203N	D	-	1	0	ZDHHC20	20863981	0.926000	0.31397	0.479000	0.27329	0.948000	0.59901	2.976000	0.49289	2.613000	0.88420	0.467000	0.42956	GAT		PASS	0.358	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		4	17	4	17	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369131	22369131	+	Silent	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:22369131C>A	ENST00000332663.2	+	1	654	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R186R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACAGGTTGTCCGGATTGCCTG	0.458																																						uc010tzu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(556-558)CGG>AGG		olfactory receptor, family 4, subfamily M,							280.0	208.0	232.0					15																	22369131		2202	4280	6482	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369131C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.556C>A	15.37:g.22369131C>A						LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.R186R	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	556	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	186			Extracellular (Potential).		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.556C>A	CCDS32172.1																																																																																				PASS	0.458	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			32	116	32	116	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40265206	40265206	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:40265206A>T	ENST00000263791.5	+	10	1694	c.1651A>T	c.(1651-1653)Agt>Tgt	p.S551C	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.S551C|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S551C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	551					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.S551C(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGTGGAACAAAGTCCTGAAGG	0.398																																						uc001zkm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(1651-1653)AGT>TGT		eukaryotic translation initiation factor 2 alpha							102.0	99.0	100.0					15																	40265206		1838	4082	5920	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40265206A>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1651A>T	15.37:g.40265206A>T	ENSP00000263791:p.Ser551Cys					EIF2AK4_uc001zkl.2_Missense_Mutation_p.S551C|EIF2AK4_uc010bbj.1_Missense_Mutation_p.S280C	p.S551C	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	10	1701	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	551					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.1651A>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360148	0.41801	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.74002	-0.56;-0.8	5.67	5.67	0.87782	.	0.285984	0.41938	D	0.000786	T	0.67040	0.2851	L	0.43152	1.355	0.34718	D	0.728431	B;B	0.22746	0.001;0.074	B;B	0.21708	0.003;0.036	T	0.72928	-0.4143	10	0.62326	D	0.03	-9.2907	11.0612	0.47948	0.8616:0.0:0.0:0.1384	.	551;551	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	C	551	ENSP00000263791:S551C;ENSP00000372174:S551C	ENSP00000263791:S551C	S	+	1	0	EIF2AK4	38052498	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.178000	0.50879	2.166000	0.68216	0.383000	0.25322	AGT		PASS	0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			3	64	3	64	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41862508	41862508	+	Silent	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:41862508C>A	ENST00000263798.3	+	11	1677	c.1453C>A	c.(1453-1455)Cga>Aga	p.R485R	TYRO3_ENST00000559066.1_Silent_p.R440R	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	485					apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R485R(1)|p.R477R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTCCTTCAATCGAGAAAGGCC	0.567																																						uc001zof.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(1453-1455)CGA>AGA		TYRO3 protein tyrosine kinase precursor							67.0	81.0	76.0					15																	41862508		2203	4300	6503	SO:0001819	synonymous_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41862508C>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1453C>A	15.37:g.41862508C>A							p.R485R	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	11	1677	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	485			Cytoplasmic (Potential).		O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	c.1453C>A	CCDS10080.1																																																																																				PASS	0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			20	93	20	93	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42032210	42032210	+	Intron	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:42032210C>T	ENST00000570161.1	+	13	4434				MGA_ENST00000389936.4_Intron|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1514L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGCGACCCTCAGTCCTGGAC	0.532																																						uc010uda.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(241-243)TCA>TTA		MAX-interacting protein isoform 1							126.0	132.0	130.0					15																	42032210		2052	4197	6249	SO:0001627	intron_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42032210C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4435-41C>T	15.37:g.42032210C>T						MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron	p.S81L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	3	368	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1470					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.242C>T	CCDS55959.1																																																																																				PASS	0.532	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		22	98	22	98	---	---	---	---
SLC30A4	7782	broad.mit.edu	37	15	45814460	45814460	+	Silent	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:45814460G>A	ENST00000261867.4	-	2	407	c.93C>T	c.(91-93)ttC>ttT	p.F31F	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'Flank	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	31	Asp-rich (acidic).				regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)	p.F31F(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CCTCATCCGAGAAGTCAAAGG	0.582																																						uc001zvj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)TTC>TTT		solute carrier family 30 (zinc transporter),							39.0	46.0	44.0					15																	45814460		2198	4298	6496	SO:0001819	synonymous_variant	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45814460G>A		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.93C>T	15.37:g.45814460G>A						C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	p.F31F	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	2	405	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	31			Cytoplasmic (Potential).|Asp-rich (acidic).		Q8TC39	Silent	SNP	ENST00000261867.4	37	c.93C>T	CCDS10125.1																																																																																				PASS	0.582	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			3	45	3	45	---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49429425	49429425	+	Splice_Site	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:49429425C>T	ENST00000388901.5	-	6	536		c.e6-1		COPS2_ENST00000542928.1_Splice_Site|Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Splice_Site	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2						cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATTTTCCAAGCTGCAAGAAAG	0.333																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2																			1	Unknown(1)		lung(1)	lung(1)	1						c.e6-1		COP9 constitutive photomorphogenic homolog							40.0	42.0	41.0					15																	49429425		2195	4292	6487	SO:0001630	splice_region_variant	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49429425C>T	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.463-1G>A	15.37:g.49429425C>T						COPS2_uc001zxh.2_Splice_Site_p.L162_splice|COPS2_uc010ufa.1_Splice_Site_p.L91_splice	p.L155_splice	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	6	542	-		all_lung(180;0.0428)						O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Splice_Site	SNP	ENST00000388901.5	37	c.463_splice	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254340	0.80135	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8195	0.96586	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COPS2	47216717	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.776000	0.85560	2.756000	0.94617	0.655000	0.94253	.		PASS	0.333	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236	Intron	9	33	9	33	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68661578	68661578	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:68661578G>A	ENST00000315757.7	-	3	295	c.209C>T	c.(208-210)aCg>aTg	p.T70M	ITGA11_ENST00000423218.2_Missense_Mutation_p.T70M	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	70					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.T70M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACGTCTCCCGTCTTCTGGTA	0.562																																						uc002ari.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(208-210)ACG>ATG		integrin, alpha 11 precursor	Tirofiban(DB00775)						126.0	128.0	127.0					15																	68661578		2039	4202	6241	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68661578G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.209C>T	15.37:g.68661578G>A	ENSP00000327290:p.Thr70Met					ITGA11_uc010bib.2_Missense_Mutation_p.T70M	p.T70M	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			3	296	-			70			FG-GAP 1.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.209C>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340905	0.81911	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.73258	-0.73;-0.73	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	L	0.56340	1.77	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.91635	0.972;0.999	T	0.81046	-0.1110	10	0.48119	T	0.1	.	15.7093	0.77612	0.0:0.0:1.0:0.0	.	70;70	A8K8T0;Q9UKX5	.;ITA11_HUMAN	M	70	ENSP00000327290:T70M;ENSP00000403392:T70M	ENSP00000327290:T70M	T	-	2	0	ITGA11	66448632	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	8.044000	0.89434	2.296000	0.77279	0.561000	0.74099	ACG		PASS	0.562	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		18	37	18	37	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84652054	84652054	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr15:84652054A>G	ENST00000286744.5	+	21	3898	c.3674A>G	c.(3673-3675)tAt>tGt	p.Y1225C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Y1225C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1225	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y1225C(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGCCACATATACATGGACC	0.363																																						uc002bjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3673-3675)TAT>TGT		ADAMTS-like 3 precursor							113.0	121.0	118.0					15																	84652054		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84652054A>G	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3674A>G	15.37:g.84652054A>G	ENSP00000286744:p.Tyr1225Cys					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Y1225C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Y1225C	p.Y1225C	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3898	+			1225			Ig-like C2-type 2.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3674A>G	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277288	0.40294	.	.	ENSG00000156218	ENST00000286744	T	0.14022	2.54	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.509209	0.14797	N	0.297873	T	0.37919	0.1021	M	0.80616	2.505	0.18873	N	0.999989	D;D	0.89917	0.998;1.0	D;D	0.72982	0.951;0.979	T	0.23476	-1.0187	10	0.72032	D	0.01	.	10.4789	0.44680	0.855:0.0:0.0:0.145	.	1225;1225	P82987-2;P82987	.;ATL3_HUMAN	C	1225	ENSP00000286744:Y1225C	ENSP00000286744:Y1225C	Y	+	2	0	ADAMTSL3	82443058	0.959000	0.32827	0.048000	0.18961	0.557000	0.35523	4.614000	0.61183	2.045000	0.60652	0.455000	0.32223	TAT		PASS	0.363	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		40	111	40	111	---	---	---	---
RPL3L	6123	broad.mit.edu	37	16	2000847	2000847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr16:2000847G>A	ENST00000268661.7	-	4	593	c.499C>T	c.(499-501)Cag>Tag	p.Q167*		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	167					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.Q167*(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGGCTGACCTGAGTGTGGACA	0.587																																						uc002cnh.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(499-501)CAG>TAG		ribosomal protein L3-like							216.0	185.0	196.0					16																	2000847		2199	4300	6499	SO:0001587	stop_gained	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:2000847G>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.499C>T	16.37:g.2000847G>A	ENSP00000268661:p.Gln167*						p.Q167*	NM_005061	NP_005052	Q92901	RL3L_HUMAN			4	546	-			167						Nonsense_Mutation	SNP	ENST00000268661.7	37	c.499C>T	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963258	0.74016	.	.	ENSG00000140986	ENST00000268661	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.7855	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	X	167	.	ENSP00000268661:Q167X	Q	-	1	0	RPL3L	1940848	1.000000	0.71417	0.995000	0.50966	0.004000	0.04260	9.752000	0.98900	2.059000	0.61396	0.406000	0.27484	CAG		PASS	0.587	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		31	34	31	34	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89351186	89351186	+	Silent	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr16:89351186C>T	ENST00000301030.4	-	9	2224	c.1764G>A	c.(1762-1764)tcG>tcA	p.S588S	ANKRD11_ENST00000378330.2_Silent_p.S588S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	588	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S588S(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGGCTTCAGCGATTCCACAC	0.592																																						uc002fmx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1762-1764)TCG>TCA		ankyrin repeat domain 11							25.0	26.0	25.0					16																	89351186		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89351186C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1764G>A	16.37:g.89351186C>T						ANKRD11_uc002fmy.1_Silent_p.S588S|ANKRD11_uc002fnc.1_Silent_p.S588S|ANKRD11_uc002fnb.1_Silent_p.S545S	p.S588S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2225	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	588			Ser-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.1764G>A	CCDS32513.1																																																																																				PASS	0.592	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		5	24	5	24	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	G	rs587780073		TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:7577580T>G	ENST00000269305.4	-	7	890	c.701A>C	c.(700-702)tAc>tCc	p.Y234S	TP53_ENST00000420246.2_Missense_Mutation_p.Y234S|TP53_ENST00000445888.2_Missense_Mutation_p.Y234S|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y234S|TP53_ENST00000455263.2_Missense_Mutation_p.Y234S|TP53_ENST00000413465.2_Missense_Mutation_p.Y234S	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		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		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM035576	TP53	M		c.(700-702)TAC>TCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							119.0	95.0	103.0					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>C	17.37:g.7577580T>G	ENSP00000269305:p.Tyr234Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y234S|TP53_uc002gih.2_Missense_Mutation_p.Y234S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102S|TP53_uc010cng.1_Missense_Mutation_p.Y102S|TP53_uc002gii.1_Missense_Mutation_p.Y102S|TP53_uc010cnh.1_Missense_Mutation_p.Y234S|TP53_uc010cni.1_Missense_Mutation_p.Y234S|TP53_uc002gij.2_Missense_Mutation_p.Y234S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141S|TP53_uc002gio.2_Missense_Mutation_p.Y102S	p.Y234S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355247	0.61293	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.50467	D	0.99987	D;D;D;D;D;D	0.89917	0.979;1.0;0.999;0.968;0.99;1.0	P;D;D;P;D;D	0.97110	0.872;0.99;0.987;0.889;0.957;1.0	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234S;ENSP00000352610:Y234S;ENSP00000269305:Y234S;ENSP00000398846:Y234S;ENSP00000391127:Y234S;ENSP00000391478:Y234S;ENSP00000425104:Y102S;ENSP00000423862:Y141S	ENSP00000269305:Y234S	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	15	24	15	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37564166	37564166	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:37564166G>C	ENST00000300651.6	-	17	4531	c.4308C>G	c.(4306-4308)atC>atG	p.I1436M	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.I1436M(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGAACCACTGATGAGTGGAG	0.493										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4306-4308)ATC>ATG		mediator complex subunit 1							69.0	70.0	70.0					17																	37564166		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564166G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4308C>G	17.37:g.37564166G>C	ENSP00000300651:p.Ile1436Met	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.I1264M|MED1_uc002hru.2_Intron	p.I1436M	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4520	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1436			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4308C>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529887	0.27387	.	.	ENSG00000125686	ENST00000300651	T	0.35236	1.32	4.66	1.49	0.22878	.	.	.	.	.	T	0.23289	0.0563	N	0.14661	0.345	0.41433	D	0.987873	D	0.56968	0.978	P	0.49276	0.605	T	0.06409	-1.0828	9	0.44086	T	0.13	-7.9642	3.8967	0.09143	0.2314:0.0:0.481:0.2876	.	1436	Q15648	MED1_HUMAN	M	1436	ENSP00000300651:I1436M	ENSP00000300651:I1436M	I	-	3	3	MED1	34817692	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.412000	0.34714	0.266000	0.21894	-0.291000	0.09656	ATC		PASS	0.493	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		14	49	14	49	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37564269	37564269	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:37564269G>C	ENST00000300651.6	-	17	4428	c.4205C>G	c.(4204-4206)cCt>cGt	p.P1402R	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.P1402R(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTAATGCTAGGGGAGCCTCC	0.458										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4204-4206)CCT>CGT		mediator complex subunit 1							60.0	63.0	62.0					17																	37564269		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564269G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4205C>G	17.37:g.37564269G>C	ENSP00000300651:p.Pro1402Arg	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.P1230R|MED1_uc002hru.2_Intron	p.P1402R	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4417	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1402			Ser-rich.|Interaction with TP53.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4205C>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115375	0.56505	.	.	ENSG00000125686	ENST00000300651	T	0.56444	0.46	4.34	4.34	0.51931	.	.	.	.	.	T	0.50446	0.1616	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.50490	0.642	T	0.58618	-0.7605	9	0.72032	D	0.01	-0.8978	17.4199	0.87512	0.0:0.0:1.0:0.0	.	1402	Q15648	MED1_HUMAN	R	1402	ENSP00000300651:P1402R	ENSP00000300651:P1402R	P	-	2	0	MED1	34817795	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.559000	0.98135	2.400000	0.81607	0.561000	0.74099	CCT		PASS	0.458	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		29	59	29	59	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37564891	37564891	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:37564891G>A	ENST00000300651.6	-	17	3806	c.3583C>T	c.(3583-3585)Cat>Tat	p.H1195Y	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.H1195Y(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCCTTGAATGAGAAGGGGAT	0.483										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3583-3585)CAT>TAT		mediator complex subunit 1							115.0	122.0	120.0					17																	37564891		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564891G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3583C>T	17.37:g.37564891G>A	ENSP00000300651:p.His1195Tyr	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.H1023Y|MED1_uc002hru.2_Intron	p.H1195Y	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3795	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1195			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3583C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585580	0.66105	.	.	ENSG00000125686	ENST00000300651	T	0.59224	0.28	5.35	5.35	0.76521	.	.	.	.	.	T	0.65417	0.2689	L	0.27053	0.805	0.58432	D	0.999999	D	0.59357	0.985	D	0.63877	0.919	T	0.66666	-0.5866	9	0.59425	D	0.04	-9.9778	19.6142	0.95626	0.0:0.0:1.0:0.0	.	1195	Q15648	MED1_HUMAN	Y	1195	ENSP00000300651:H1195Y	ENSP00000300651:H1195Y	H	-	1	0	MED1	34818417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.559000	0.98135	2.941000	0.99782	0.655000	0.94253	CAT		PASS	0.483	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		10	47	10	47	---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54969227	54969227	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:54969227C>G	ENST00000316881.4	-	9	1776	c.1727G>C	c.(1726-1728)cGg>cCg	p.R576P	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000573108.1_5'Flank|TRIM25_ENST00000537230.1_Missense_Mutation_p.R576P|MIR3614_ENST00000581261.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	576	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R576P(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CACGCCCACCCGCGTGGCCTT	0.567																																						uc002iut.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|skin(1)	3						c.(1726-1728)CGG>CCG		tripartite motif-containing 25							73.0	62.0	66.0					17																	54969227		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969227C>G	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1727G>C	17.37:g.54969227C>G	ENSP00000323889:p.Arg576Pro					TRIM25_uc010dcj.2_Missense_Mutation_p.R368P	p.R576P	NM_005082	NP_005073	Q14258	TRI25_HUMAN			9	1787	-	Breast(9;6.15e-08)		576			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1727G>C	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288518	0.59976	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.71103	-0.54;-0.54	4.83	2.85	0.33270	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.422214	0.19463	N	0.113642	T	0.82144	0.4973	M	0.84156	2.68	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.71364	-0.4615	10	0.87932	D	0	.	7.6436	0.28309	0.0:0.666:0.0:0.334	.	576	Q14258	TRI25_HUMAN	P	576	ENSP00000323889:R576P;ENSP00000445961:R576P	ENSP00000323889:R576P	R	-	2	0	TRIM25	52324226	0.917000	0.31117	0.087000	0.20705	0.950000	0.60333	1.980000	0.40618	0.460000	0.27045	0.511000	0.50034	CGG		PASS	0.567	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		20	21	20	21	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247784	56247784	+	Silent	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:56247784C>T	ENST00000545221.1	+	1	768	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y256Y(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CAAGCATTTACCTCTATGCCC	0.537																																						uc010wnp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(766-768)TAC>TAT		olfactory receptor, family 4, subfamily D,							180.0	135.0	150.0					17																	56247784		2203	4300	6503	SO:0001819	synonymous_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247784C>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.768C>T	17.37:g.56247784C>T							p.Y256Y	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	768	+			256			Helical; Name=6; (Potential).		Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	c.768C>T	CCDS32688.1																																																																																				PASS	0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			48	50	48	50	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67039850	67039850	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:67039850T>C	ENST00000340001.4	-	6	791	c.580A>G	c.(580-582)Aca>Gca	p.T194A	ABCA9_ENST00000453985.2_Missense_Mutation_p.T194A|ABCA9_ENST00000370732.2_Missense_Mutation_p.T194A|ABCA9_ENST00000495634.1_Missense_Mutation_p.T194A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	194					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T194A(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)					GAATGATTTGTTGCGATCTGA	0.343																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(580-582)ACA>GCA		ATP-binding cassette, sub-family A, member 9							74.0	73.0	73.0					17																	67039850		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67039850T>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.580A>G	17.37:g.67039850T>C	ENSP00000342216:p.Thr194Ala					ABCA9_uc010dez.2_Missense_Mutation_p.T194A|ABCA9_uc002jhv.2_Missense_Mutation_p.T194A	p.T194A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			6	723	-	Breast(10;1.47e-12)		194					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.580A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143746	0.37825	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86956	-2.19;-2.19	4.83	2.62	0.31277	.	0.290109	0.23955	N	0.042912	D	0.87625	0.6224	M	0.72576	2.205	0.23113	N	0.998274	B;B	0.30511	0.282;0.225	B;B	0.43950	0.437;0.424	T	0.78301	-0.2257	10	0.37606	T	0.19	.	6.5544	0.22452	0.0:0.2724:0.0:0.7276	.	194;194	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	A	194;177;194;189	ENSP00000342216:T194A;ENSP00000359767:T194A	ENSP00000342216:T194A	T	-	1	0	ABCA9	64551445	0.992000	0.36948	0.273000	0.24645	0.607000	0.37147	1.330000	0.33781	0.438000	0.26450	0.491000	0.48974	ACA		PASS	0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		28	24	28	24	---	---	---	---
CYGB	114757	broad.mit.edu	37	17	74527629	74527629	+	Silent	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:74527629C>A	ENST00000293230.5	-	2	650	c.288G>T	c.(286-288)ctG>ctT	p.L96L	CYGB_ENST00000589145.1_Silent_p.L31L|CYGB_ENST00000590175.1_Silent_p.L31L|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589342.1_Silent_p.L96L|CYGB_ENST00000586160.1_5'Flank	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	96	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)	p.L96L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						CGGGGTCATGCAGGTTCTCCA	0.627																																						uc002jru.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)CTG>CTT		cytoglobin							101.0	91.0	94.0					17																	74527629		2203	4300	6503	SO:0001819	synonymous_variant	114757				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity	g.chr17:74527629C>A	AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.288G>T	17.37:g.74527629C>A						CYGB_uc002jrv.1_Silent_p.L31L|PRCD_uc002jrw.1_Intron	p.L96L	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN			2	446	-			96			Globin.		Q541Y7|Q8N2X5	Silent	SNP	ENST00000293230.5	37	c.288G>T	CCDS11746.1																																																																																				PASS	0.627	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1	NM_134268		13	36	13	36	---	---	---	---
ZBTB7A	51341	broad.mit.edu	37	19	4054254	4054254	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:4054254G>A	ENST00000322357.4	-	2	1255	c.977C>T	c.(976-978)tCg>tTg	p.S326L	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.S326L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	326					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)	p.S326L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		ccggcccACCGATGACATCAT	0.726																																						uc002lzh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(976-978)TCG>TTG		zinc finger and BTB domain containing 7A							5.0	7.0	7.0					19																	4054254		2042	3885	5927	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054254G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.977C>T	19.37:g.4054254G>A	ENSP00000323670:p.Ser326Leu					ZBTB7A_uc002lzi.2_Missense_Mutation_p.S326L	p.S326L	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1052	-		Hepatocellular(1079;0.137)	326					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.977C>T	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006035	0.54361	.	.	ENSG00000178951	ENST00000322357	T	0.12361	2.69	4.8	4.8	0.61643	.	1.092330	0.07052	U	0.832209	T	0.13670	0.0331	L	0.27053	0.805	0.41855	D	0.990191	B	0.32731	0.382	B	0.28139	0.086	T	0.16928	-1.0386	10	0.51188	T	0.08	.	16.4204	0.83757	0.0:0.0:1.0:0.0	.	326	O95365	ZBT7A_HUMAN	L	326	ENSP00000323670:S326L	ENSP00000323670:S326L	S	-	2	0	ZBTB7A	4005254	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	6.517000	0.73759	2.212000	0.71576	0.455000	0.32223	TCG		PASS	0.726	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		3	4	3	4	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:18960909G>A	ENST00000599848.1	+	4	696	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.A163T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517																																						uc002nkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(487-489)GCA>ACA		regulator of nonsense transcripts 1							89.0	88.0	88.0					19																	18960909		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18960909G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.487G>A	19.37:g.18960909G>A	ENSP00000470142:p.Ala163Thr					UPF1_uc002nkf.2_Missense_Mutation_p.A163T	p.A163T	NM_002911	NP_002902	Q92900	RENT1_HUMAN			4	762	+			163			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.014153	0.93404	.	.	ENSG00000005007	ENST00000262803	D	0.91237	-2.81	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.86805	2.84	0.80722	D	1	P;P	0.41159	0.74;0.695	P;B	0.49301	0.606;0.415	D	0.95400	0.8489	10	0.87932	D	0	-16.0301	16.5553	0.84483	0.0:0.0:1.0:0.0	.	163;163	Q92900;Q92900-2	RENT1_HUMAN;.	T	163	ENSP00000262803:A163T	ENSP00000262803:A163T	A	+	1	0	UPF1	18821909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.221000	0.72209	0.591000	0.81541	GCA		PASS	0.517	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		4	109	4	109	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20027425	20027425	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:20027425T>G	ENST00000343769.5	+	3	215	c.187T>G	c.(187-189)Ttg>Gtg	p.L63V	ZNF93_ENST00000591366.1_Missense_Mutation_p.L63V|AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Missense_Mutation_p.L63V	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L63V(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AAAAAAACCTTTGACTATGAA	0.418																																						uc002non.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(187-189)TTG>GTG		zinc finger protein 93							98.0	101.0	100.0					19																	20027425		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20027425T>G	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.187T>G	19.37:g.20027425T>G	ENSP00000342002:p.Leu63Val					ZNF93_uc002nom.2_Missense_Mutation_p.L63V	p.L63V	NM_031218	NP_112495	P35789	ZNF93_HUMAN			3	298	+			63			KRAB.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.187T>G	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	9.074	0.997599	0.19043	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.04862	3.54	0.85	0.85	0.18980	Krueppel-associated box (2);	.	.	.	.	T	0.06872	0.0175	L	0.39147	1.195	0.09310	N	1	P;P	0.49559	0.645;0.925	B;P	0.46339	0.101;0.513	T	0.31110	-0.9955	9	0.59425	D	0.04	.	3.739	0.08523	0.0:0.0:0.0:1.0	.	63;63	P35789;P35789-2	ZNF93_HUMAN;.	V	63	ENSP00000342002:L63V	ENSP00000342002:L63V	L	+	1	2	ZNF93	19888425	0.006000	0.16342	0.184000	0.23157	0.183000	0.23260	1.116000	0.31221	0.166000	0.19597	0.164000	0.16699	TTG		PASS	0.418	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		4	81	4	81	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940429	22940429	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:22940429C>G	ENST00000596209.1	-	4	2372	c.2282G>C	c.(2281-2283)tGc>tCc	p.C761S	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.C670S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	761					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.C670S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGCAGGGTTTCTC	0.358																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2008-2010)TGC>TCC		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22940429C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2282G>C	19.37:g.22940429C>G	ENSP00000472969:p.Cys761Ser						p.C670S	NM_001080409	NP_001073878					5	2009	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2009G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	3.041	-0.197479	0.06259	.	.	ENSG00000213973	ENST00000397104	T	0.14640	2.49	0.718	-1.22	0.09494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.16656	0.425	0.09310	N	1	B	0.30824	0.296	B	0.39660	0.306	T	0.40701	-0.9549	9	0.72032	D	0.01	.	1.9738	0.03412	0.2626:0.2044:0.0:0.533	.	670	A8MXY4	ZNF99_HUMAN	S	670	ENSP00000380293:C670S	ENSP00000380293:C670S	C	-	2	0	ZNF99	22732269	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-0.888000	0.04148	-0.230000	0.09840	-0.741000	0.03529	TGC		PASS	0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		8	76	8	76	---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37904954	37904954	+	Silent	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:37904954G>A	ENST00000316950.6	-	6	1163	c.606C>T	c.(604-606)atC>atT	p.I202I	ZNF569_ENST00000392149.2_Silent_p.I202I|ZNF569_ENST00000392150.2_Silent_p.I43I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	202					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.I202I(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGATGTCTGATGAGGTCCA	0.358																																						uc002ogi.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(1)	3						c.(604-606)ATC>ATT		zinc finger protein 569							67.0	68.0	68.0					19																	37904954		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904954G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.606C>T	19.37:g.37904954G>A						ZNF569_uc002ogh.2_Silent_p.I43I|ZNF569_uc002ogj.2_Silent_p.I226I	p.I202I	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1164	-			202			C2H2-type 1.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.606C>T	CCDS12503.1																																																																																				PASS	0.358	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		31	71	31	71	---	---	---	---
ZFP30	22835	broad.mit.edu	37	19	38126846	38126846	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:38126846G>A	ENST00000351218.2	-	6	1153	c.596C>T	c.(595-597)gCc>gTc	p.A199V	ZFP30_ENST00000514101.2_Missense_Mutation_p.A199V|ZFP30_ENST00000392144.1_Missense_Mutation_p.A199V|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	199					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.A199V(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGAGGTGGGCACACTGTCT	0.388																																						uc002ogv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GCC>GTC		zinc finger protein 30 homolog							114.0	120.0	118.0					19																	38126846		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126846G>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.596C>T	19.37:g.38126846G>A	ENSP00000343581:p.Ala199Val					ZFP30_uc002ogw.1_Missense_Mutation_p.A199V|ZFP30_uc002ogx.1_Missense_Mutation_p.A199V|ZFP30_uc010xtt.1_Missense_Mutation_p.A198V	p.A199V	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1112	-			199			C2H2-type 2.		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.596C>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154591	0.38021	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.08008	3.14;3.14;3.14	3.79	3.79	0.43588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34802	N	0.003674	T	0.10937	0.0267	L	0.33189	0.99	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.48304	0.573;0.573	T	0.07271	-1.0781	10	0.72032	D	0.01	.	14.9143	0.70781	0.0:0.0:1.0:0.0	.	199;199	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	V	199;199;199;198	ENSP00000343581:A199V;ENSP00000422930:A199V;ENSP00000375988:A199V	ENSP00000343581:A199V	A	-	2	0	ZFP30	42818686	0.002000	0.14202	0.999000	0.59377	0.987000	0.75469	1.156000	0.31712	2.115000	0.64714	0.655000	0.94253	GCC		PASS	0.388	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		4	171	4	171	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948934	38948934	+	Splice_Site	SNP	T	T	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:38948934T>C	ENST00000359596.3	+	18	2167		c.e18+2		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000355481.4_Splice_Site			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCTGGACAGGTACCTGACCCC	0.612																																						uc002oit.2																			1	Unknown(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.e18+2		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						101.0	94.0	97.0					19																	38948934		2179	4249	6428	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948934T>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2167+2T>C	19.37:g.38948934T>C						RYR1_uc002oiu.2_Splice_Site_p.G723_splice	p.G723_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2297	+	all_cancers(60;7.91e-06)							Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37	c.2167_splice	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380160	0.82682	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3523	0.66711	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR1	43640774	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	7.825000	0.86693	2.119000	0.64992	0.449000	0.29647	.		PASS	0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Intron	55	79	55	79	---	---	---	---
ZNF222	7673	broad.mit.edu	37	19	44536873	44536873	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:44536873G>T	ENST00000187879.8	+	4	1208	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G389V	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	349					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.G349V(1)|p.G389V(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTGGGAAGGGCTACATTAGT	0.448																																						uc002oyc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1045-1047)GGC>GTC		zinc finger protein 222 isoform 2							106.0	102.0	103.0					19																	44536873		2203	4300	6503	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536873G>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1046G>T	19.37:g.44536873G>T	ENSP00000187879:p.Gly349Val					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.G389V|ZNF222_uc002oyd.2_Missense_Mutation_p.G295V	p.G349V	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1229	+		Prostate(69;0.0435)	349			C2H2-type 8.		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.1046G>T	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516153	0.64634	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.35973	1.28;1.28	2.79	0.262	0.15597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33760	0.0874	N	0.11892	0.195	0.40806	D	0.983382	D;D	0.67145	0.99;0.996	D;D	0.68192	0.945;0.956	T	0.25641	-1.0126	9	0.56958	D	0.05	.	6.8706	0.24119	0.1189:0.1783:0.7028:0.0	.	389;349	G5E9B9;Q9UK12	.;ZN222_HUMAN	V	389;349;295	ENSP00000375822:G389V;ENSP00000187879:G349V	ENSP00000187879:G349V	G	+	2	0	ZNF222	49228713	0.009000	0.17119	0.028000	0.17463	0.834000	0.47266	0.951000	0.29135	0.477000	0.27464	0.205000	0.17691	GGC		PASS	0.448	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			15	78	15	78	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52705205	52705205	+	Silent	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr19:52705205C>T	ENST00000322088.6	+	2	145	c.87C>T	c.(85-87)ctC>ctT	p.L29L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S8L|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	29	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.L29L(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGCTTCGCCTCAACAGCATCA	0.532			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - coding silent(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(85-87)CTC>CTT		alpha isoform of regulatory subunit A, protein							92.0	78.0	83.0					19																	52705205		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52705205C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.87C>T	19.37:g.52705205C>T						PPP2R1A_uc010ydk.1_Missense_Mutation_p.S8L|PPP2R1A_uc010epm.1_Silent_p.L69L|PPP2R1A_uc002pyq.2_5'UTR	p.L29L	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	2	246	+			29			PP2A subunit B binding.|HEAT 1.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.87C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329358	0.41197	.	.	ENSG00000105568	ENST00000391791;ENST00000444322	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.27000	N	0.964932	B	0.09022	0.002	B	0.09377	0.004	T	0.15037	-1.0451	6	.	.	.	-18.5266	10.5862	0.45284	0.0:0.9047:0.0:0.0953	.	8	F5H3X9	.	L	8	.	.	S	+	2	0	PPP2R1A	57397017	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	0.326000	0.19646	1.250000	0.43966	-0.152000	0.13540	TCA		PASS	0.532	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		6	26	6	26	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9317805	9317805	+	Silent	SNP	C	C	T			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr20:9317805C>T	ENST00000378493.1	+	2	132	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLCB4_ENST00000378501.2_Silent_p.F39F|PLCB4_ENST00000278655.4_Silent_p.F39F|PLCB4_ENST00000334005.3_Silent_p.F39F|PLCB4_ENST00000414679.2_Silent_p.F39F|PLCB4_ENST00000378473.3_Silent_p.F39F|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	39					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.F39F(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACTGCCTCTTCAAAGTGGATG	0.378																																						uc002wnf.2																			1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(115-117)TTC>TTT		phospholipase C beta 4 isoform b							132.0	121.0	125.0					20																	9317805		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9317805C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.117C>T	20.37:g.9317805C>T						PLCB4_uc010gbw.1_Silent_p.F39F|PLCB4_uc010gbx.2_Silent_p.F39F|PLCB4_uc002wne.2_Silent_p.F39F	p.F39F	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			4	253	+			39					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.117C>T	CCDS13105.1																																																																																				PASS	0.378	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			15	49	15	49	---	---	---	---
PRR14L	253143	broad.mit.edu	37	22	32097716	32097716	+	Silent	SNP	T	T	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr22:32097716T>C	ENST00000327423.6	-	7	6222	c.6033A>G	c.(6031-6033)tcA>tcG	p.S2011S	PRR14L_ENST00000434485.1_Intron|PRR14L_ENST00000397493.2_Silent_p.S2011S	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	2011								p.S2011S(2)|p.S164S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TGCGAATCTGTGAGACTTTCT	0.423																																						uc003alp.3																			3	Substitution - coding silent(3)		lung(3)		0						c.(6031-6033)TCA>TCG		hypothetical protein LOC253143							129.0	115.0	120.0					22																	32097716		2203	4300	6503	SO:0001819	synonymous_variant	253143							g.chr22:32097716T>C	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.6033A>G	22.37:g.32097716T>C						C22orf30_uc003alo.1_Silent_p.S1810S|C22orf30_uc010gwj.1_Intron	p.S2011S	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN			7	6226	-			2011					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Silent	SNP	ENST00000327423.6	37	c.6033A>G	CCDS13900.2	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246452	0.22796	.	.	ENSG00000183530	ENST00000330495	.	.	.	5.63	0.691	0.18045	.	.	.	.	.	T	0.42268	0.1195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22417	-1.0217	4	.	.	.	-12.3855	1.5802	0.02633	0.1383:0.1575:0.1434:0.5608	.	.	.	.	A	314	.	.	T	-	1	0	PRR14L	30427716	0.981000	0.34729	1.000000	0.80357	0.996000	0.88848	-0.135000	0.10420	0.061000	0.16311	-0.256000	0.11100	ACA		PASS	0.423	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		17	54	17	54	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50037927	50037927	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chrX:50037927C>A	ENST00000376042.1	+	5	567	c.269C>A	c.(268-270)tCc>tAc	p.S90Y	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S90Y|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	90					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S90Y(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAGTTGTTTCCAAGAAGATA	0.428																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(268-270)TCC>TAC		cyclin B3 isoform 3							103.0	90.0	94.0					X																	50037927		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50037927C>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.269C>A	X.37:g.50037927C>A	ENSP00000365210:p.Ser90Tyr					CCNB3_uc004doy.2_Missense_Mutation_p.S90Y|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_5'UTR	p.S90Y	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			5	567	+	Ovarian(276;0.236)		90					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.269C>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872975	0.33069	.	.	ENSG00000147082	ENST00000376042;ENST00000396540;ENST00000276014	T;T	0.12672	2.66;2.66	4.39	2.42	0.29668	.	49.245100	0.00166	U	0.000000	T	0.16385	0.0394	L	0.38175	1.15	0.09310	N	1	P	0.46912	0.886	P	0.45946	0.498	T	0.11494	-1.0585	9	.	.	.	.	5.475	0.16690	0.0:0.6971:0.0:0.3029	.	90	Q8WWL7	CCNB3_HUMAN	Y	90	ENSP00000365210:S90Y;ENSP00000276014:S90Y	.	S	+	2	0	CCNB3	50054667	0.266000	0.24112	0.014000	0.15608	0.006000	0.05464	0.276000	0.18716	0.330000	0.23485	-0.397000	0.06425	TCC		PASS	0.428	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			21	11	21	11	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136649888	136649888	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chrX:136649888G>C	ENST00000287538.5	+	1	1588	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	ZIC3_ENST00000370606.3_Missense_Mutation_p.K346N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	346	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K346N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGAACCTCAAGATCCACAAGA	0.602																																						uc004fak.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1036-1038)AAG>AAC		zinc finger protein of the cerebellum 3							53.0	57.0	56.0					X																	136649888		2200	4285	6485	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649888G>C	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1038G>C	X.37:g.136649888G>C	ENSP00000287538:p.Lys346Asn						p.K346N	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1543	+	Acute lymphoblastic leukemia(192;0.000127)		346	K->A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A- 349 and A-350.		C2H2-type 3.|Nuclear localization signal.		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1038G>C	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341921	0.61073	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;D	0.96232	0.87;-3.95	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099842	0.64402	D	0.000002	D	0.97151	0.9069	L	0.47190	1.495	0.53688	D	0.999972	D	0.76494	0.999	D	0.91635	0.999	D	0.98050	1.0387	10	0.87932	D	0	.	16.2665	0.82581	0.0:0.0:1.0:0.0	.	346	O60481	ZIC3_HUMAN	N	346	ENSP00000287538:K346N;ENSP00000359638:K346N	ENSP00000287538:K346N	K	+	3	2	ZIC3	136477554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.638000	0.54332	2.299000	0.77371	0.596000	0.82720	AAG		PASS	0.602	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			3	64	3	64	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38888776	38888776	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr3:38888776delA	ENST00000302328.3	-	26	4983	c.4785delT	c.(4783-4785)gttfs	p.V1596fs	SCN11A_ENST00000450244.1_Frame_Shift_Del_p.V1596fs|SCN11A_ENST00000456224.3_Frame_Shift_Del_p.V1558fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1596					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGTTGACAACAATGAGAA	0.393																																						uc011ays.1																			0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4783-4785)GTTfs		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						128.0	126.0	127.0					3																	38888776		2203	4300	6503	SO:0001589	frameshift_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888776delA	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4785delT	3.37:g.38888776delA	ENSP00000307599:p.Val1596fs						p.V1595fs	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4984	-			1595			IV.|Helical; Name=S6 of repeat IV; (By similarity).		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Del	DEL	ENST00000302328.3	37	c.4785delT	CCDS33737.1																																																																																					0.393	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		68	36	68	36	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10359842	10359842	+	Frame_Shift_Del	DEL	T	T	-			TCGA-22-5474-01A-01D-1632-08	TCGA-22-5474-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1eda33fc-80e5-4c5f-8c61-43976ca0106f	510ca59c-cb32-4cbd-9c02-fb0cbc243a29	g.chr17:10359842delT	ENST00000255381.2	-	17	2038	c.1928delA	c.(1927-1929)aagfs	p.K644fs	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	644	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGAACCCTTCTTTTTGCCACC	0.338																																						uc002gmn.2																			0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1927-1929)AAGfs		myosin, heavy polypeptide 4, skeletal muscle							66.0	67.0	67.0					17																	10359842		2203	4300	6503	SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359842delT		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1928delA	17.37:g.10359842delT	ENSP00000255381:p.Lys644fs					uc002gml.1_Intron	p.K643fs	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			17	2039	-			643			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000255381.2	37	c.1928delA	CCDS11154.1																																																																																					0.338	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		40	33	40	33	---	---	---	---
