#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
CHD5	26038	broad.mit.edu	37	1	6185836	6185836	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:6185836C>T	ENST00000262450.3	-	27	4260	c.4161G>A	c.(4159-4161)ccG>ccA	p.P1387P	CHD5_ENST00000378021.1_Silent_p.P244P	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P1387P(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTGCCCTTCCGGCCTCTCTT	0.587																																						uc001amb.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4159-4161)CCG>CCA		chromodomain helicase DNA binding protein 5							174.0	183.0	180.0					1																	6185836		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6185836C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4161G>A	1.37:g.6185836C>T						CHD5_uc001alz.1_Silent_p.P244P|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.P1387P	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	27	4261	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1387					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.4161G>A	CCDS57.1																																																																																				PASS	0.587	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		28	122	28	122	---	---	---	---
SLC25A33	84275	broad.mit.edu	37	1	9613682	9613682	+	Splice_Site	SNP	A	A	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:9613682A>C	ENST00000302692.6	+	2	266		c.e2-1			NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33						transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.?(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		TTTCCCTTACAGGTGTGGAGG	0.448																																						uc001apw.2																			1	Unknown(1)		lung(1)		0						c.e2-2		mitochondrial carrier protein MGC4399							106.0	104.0	105.0					1																	9613682		2203	4300	6503	SO:0001630	splice_region_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9613682A>C	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.57-1A>C	1.37:g.9613682A>C						SLC25A33_uc001apx.2_Splice_Site	p.G19_splice	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	2	280	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)							Splice_Site	SNP	ENST00000302692.6	37	c.57_splice	CCDS103.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723258	0.68959	.	.	ENSG00000171612	ENST00000302692	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4647	0.67475	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A33	9536269	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.828000	0.92047	2.012000	0.59069	0.529000	0.55759	.		PASS	0.448	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315	Intron	8	81	8	81	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39789864	39789864	+	Splice_Site	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:39789864G>C	ENST00000372915.3	+	33	4338		c.e33-1		MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000317713.7_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTATTCTAGAAAGTGGTAG	0.383																																						uc010ois.1																			1	Unknown(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.e35-1		microfilament and actin filament cross-linker							69.0	69.0	69.0					1																	39789864		2203	4300	6503	SO:0001630	splice_region_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39789864G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4252-1G>C	1.37:g.39789864G>C						MACF1_uc001cda.1_Splice_Site_p.K1326_splice|MACF1_uc001cdc.1_Splice_Site_p.K505_splice|MACF1_uc009vvq.1_Splice_Site_p.K475_splice|MACF1_uc001cdb.1_Splice_Site_p.K505_splice	p.K1418_splice	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		35	4457	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	SNP	ENST00000372915.3	37	c.4252_splice		.	.	.	.	.	.	.	.	.	.	G	25.6	4.656125	0.88056	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000372925	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4549	0.99139	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACF1	39562451	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	8.608000	0.90895	2.937000	0.99478	0.650000	0.86243	.		PASS	0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	Intron	4	48	4	48	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70503804	70503804	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:70503804C>A	ENST00000035383.5	+	19	2213	c.2183C>A	c.(2182-2184)cCa>cAa	p.P728Q	LRRC7_ENST00000310961.5_Missense_Mutation_p.P733Q|LRRC7_ENST00000415775.2_Missense_Mutation_p.P12Q	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	728						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P728Q(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGATTGCACCATCTTTCCCA	0.507																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2182-2184)CCA>CAA		leucine rich repeat containing 7							148.0	156.0	153.0					1																	70503804		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503804C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2183C>A	1.37:g.70503804C>A	ENSP00000035383:p.Pro728Gln					LRRC7_uc009wbg.2_Missense_Mutation_p.P12Q|LRRC7_uc001deq.2_5'UTR	p.P728Q	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2213	+			728					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2183C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	2.965	-0.213833	0.06140	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.30448	1.53;1.6;2.74	5.38	-1.73	0.08081	.	0.364616	0.28151	N	0.016412	T	0.04092	0.0114	N	0.02539	-0.55	0.31041	N	0.716315	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31223	-0.9951	10	0.25106	T	0.35	.	16.1492	0.81602	0.3637:0.6363:0.0:0.0	.	12;728	F8WE45;Q96NW7	.;LRRC7_HUMAN	Q	733;728;12;551	ENSP00000309245:P733Q;ENSP00000035383:P728Q;ENSP00000394867:P12Q	ENSP00000035383:P728Q	P	+	2	0	LRRC7	70276392	0.750000	0.28316	0.006000	0.13384	0.284000	0.27059	0.986000	0.29590	-0.592000	0.05851	-0.518000	0.04402	CCA		PASS	0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		14	158	14	158	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79403541	79403541	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:79403541G>A	ENST00000370742.3	-	6	774	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	237					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S237S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGAAGCTCTGGGATATCCTTA	0.363																																						uc001diq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(709-711)TCC>TCT		EGF, latrophilin and seven transmembrane domain							182.0	169.0	173.0					1																	79403541		1843	4094	5937	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403541G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.711C>T	1.37:g.79403541G>A							p.S237S	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	6	867	-			237			Extracellular (Potential).		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.711C>T	CCDS41352.1																																																																																				PASS	0.363	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		15	219	15	219	---	---	---	---
HMGCS2	3158	broad.mit.edu	37	1	120295955	120295955	+	Silent	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:120295955A>G	ENST00000369406.3	-	7	1291	c.1242T>C	c.(1240-1242)tcT>tcC	p.S414S	HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Silent_p.S372S	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	414					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.S414S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CTGCTAAACCAGAGCCATAAG	0.473																																						uc001eid.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1240-1242)TCT>TCC		hydroxymethylglutaryl-CoA synthase 2 isoform 1							68.0	67.0	67.0					1																	120295955		2203	4300	6503	SO:0001819	synonymous_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120295955A>G	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1242T>C	1.37:g.120295955A>G						HMGCS2_uc010oxj.1_Silent_p.S372S|HMGCS2_uc001eie.2_Silent_p.S322S	p.S414S	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	7	1293	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	414					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	c.1242T>C	CCDS905.1																																																																																				PASS	0.473	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		4	39	4	39	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187706	152187706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:152187706G>T	ENST00000368801.2	-	3	6474	c.6399C>A	c.(6397-6399)taC>taA	p.Y2133*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2133					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Y2133*(1)|p.Y2133Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGTCCGTAGCCAGAGG	0.567																																						uc001ezt.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)	skin(2)|ovary(1)	3						c.(6397-6399)TAC>TAA		hornerin							22.0	23.0	22.0					1																	152187706		1603	3263	4866	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187706G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6399C>A	1.37:g.152187706G>T	ENSP00000357791:p.Tyr2133*						p.Y2133*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6475	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2133					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6399C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	43	9.899688	0.99290	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.93	-3.72	0.04411	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.5816	0.02636	0.4565:0.2523:0.1678:0.1235	.	.	.	.	X	2133	.	ENSP00000357791:Y2133X	Y	-	3	2	HRNR	150454330	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.324000	0.02690	-0.840000	0.04206	-2.925000	0.00089	TAC		PASS	0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		49	586	49	586	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328052	152328052	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:152328052G>A	ENST00000388718.5	-	3	2282	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	737	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S737L(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCTGATCCATGTTG	0.498																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2209-2211)TCA>TTA		filaggrin family member 2							313.0	309.0	310.0					1																	152328052		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328052G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2210C>T	1.37:g.152328052G>A	ENSP00000373370:p.Ser737Leu					uc001ezv.2_Intron	p.S737L	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2283	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		737			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2210C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382204	0.42207	.	.	ENSG00000143520	ENST00000388718	T	0.03496	3.91	4.98	3.08	0.35506	.	.	.	.	.	T	0.03136	0.0092	M	0.73962	2.25	0.09310	N	1	D	0.60160	0.987	P	0.54312	0.748	T	0.28427	-1.0044	9	0.09843	T	0.71	0.0242	8.1427	0.31093	0.0859:0.0:0.7582:0.156	.	737	Q5D862	FILA2_HUMAN	L	737	ENSP00000373370:S737L	ENSP00000373370:S737L	S	-	2	0	FLG2	150594676	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.035000	0.12205	0.471000	0.27319	0.511000	0.50034	TCA		PASS	0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		38	562	38	562	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155783432	155783432	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:155783432G>A	ENST00000368331.1	-	10	1493	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	GON4L_ENST00000361040.5_Missense_Mutation_p.S482F|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.S482F|GON4L_ENST00000271883.5_Missense_Mutation_p.S482F	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	482					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S482F(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACCTGGAAAGAATCCATGCA	0.448																																						uc001flz.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(1444-1446)TCT>TTT		gon-4-like isoform a							69.0	64.0	65.0					1																	155783432		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155783432G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1445C>T	1.37:g.155783432G>A	ENSP00000357315:p.Ser482Phe					GON4L_uc001fly.1_Missense_Mutation_p.S482F|GON4L_uc009wrh.1_Missense_Mutation_p.S482F|GON4L_uc001fma.1_Missense_Mutation_p.S482F|GON4L_uc001fmc.2_Missense_Mutation_p.S482F|GON4L_uc001fmd.3_Missense_Mutation_p.S482F|GON4L_uc009wri.2_Missense_Mutation_p.S68F|GON4L_uc001fme.2_Missense_Mutation_p.S310F|GON4L_uc001fmf.2_Missense_Mutation_p.S176F	p.S482F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			10	1542	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		482					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.1445C>T		.	.	.	.	.	.	.	.	.	.	G	18.55	3.649331	0.67358	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.13657	2.76;2.76;2.76;2.57	4.84	4.84	0.62591	.	0.061185	0.64402	D	0.000002	T	0.21427	0.0516	L	0.49350	1.555	0.33463	D	0.585179	D;P;D;D;D	0.89917	0.994;0.865;1.0;0.999;1.0	P;P;D;D;D	0.87578	0.906;0.519;0.998;0.996;0.998	T	0.00766	-1.1575	10	0.49607	T	0.09	.	14.7935	0.69860	0.0:0.0:1.0:0.0	.	176;482;482;482;482	Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	F	482	ENSP00000396117:S482F;ENSP00000357315:S482F;ENSP00000271883:S482F;ENSP00000354322:S482F	ENSP00000271883:S482F	S	-	2	0	GON4L	154050056	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.345000	0.72995	2.514000	0.84764	0.655000	0.94253	TCT		PASS	0.448	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		17	113	17	113	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155934856	155934856	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:155934856G>C	ENST00000361247.4	-	7	746	c.647C>G	c.(646-648)tCt>tGt	p.S216C	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S188C|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.S217C|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.S261C|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S215C|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.S188C	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	216					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S188C(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGACTCCAAGAGTCAGCTGC	0.488																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)TCT>TGT		Rho/Rac guanine nucleotide exchange factor 2							136.0	123.0	127.0					1																	155934856		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155934856G>C	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.647C>G	1.37:g.155934856G>C	ENSP00000354837:p.Ser216Cys					ARHGEF2_uc001fmr.2_Missense_Mutation_p.S188C|ARHGEF2_uc001fms.2_Missense_Mutation_p.S215C|ARHGEF2_uc001fmu.2_Missense_Mutation_p.S260C|ARHGEF2_uc010pgt.1_Missense_Mutation_p.S189C|ARHGEF2_uc010pgu.1_Missense_Mutation_p.S261C	p.S216C	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			7	765	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		216					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.647C>G	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234737	0.79800	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.1	5.1	0.69264	Dbl homology (DH) domain (1);	0.000000	0.47093	D	0.000254	T	0.81767	0.4892	M	0.77616	2.38	0.48975	D	0.999733	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83760	0.0214	10	0.87932	D	0	-25.1377	16.046	0.80722	0.0:0.0:1.0:0.0	.	261;260;216;215	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	C	188;216;217;188;261;189;215	ENSP00000315325:S188C;ENSP00000354837:S216C;ENSP00000357298:S217C;ENSP00000357299:S188C;ENSP00000314787:S215C	ENSP00000314787:S215C	S	-	2	0	ARHGEF2	154201480	1.000000	0.71417	0.892000	0.35008	0.981000	0.71138	4.152000	0.58111	2.661000	0.90470	0.650000	0.86243	TCT		PASS	0.488	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		5	127	5	127	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156510565	156510565	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:156510565C>G	ENST00000361170.2	-	23	2684	c.2674G>C	c.(2674-2676)Gag>Cag	p.E892Q	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	892					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.E892Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTCCTGCTCCAGCTGCTGA	0.547																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2674-2676)GAG>CAG		IQ motif containing GTPase activating protein 3							167.0	127.0	141.0					1																	156510565		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156510565C>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2674G>C	1.37:g.156510565C>G	ENSP00000354451:p.Glu892Gln						p.E892Q	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			23	2749	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		892					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2674G>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099201	0.76983	.	.	ENSG00000183856	ENST00000361170	T	0.04083	3.71	5.02	4.11	0.48088	.	0.058796	0.64402	N	0.000003	T	0.03477	0.0100	M	0.65975	2.015	0.51482	D	0.999921	B	0.18461	0.028	B	0.18263	0.021	T	0.11916	-1.0568	10	0.59425	D	0.04	-20.9154	13.0939	0.59180	0.0:0.8264:0.1736:0.0	.	892	Q86VI3	IQGA3_HUMAN	Q	892	ENSP00000354451:E892Q	ENSP00000354451:E892Q	E	-	1	0	IQGAP3	154777189	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.979000	0.70508	1.320000	0.45209	0.655000	0.94253	GAG		PASS	0.547	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		45	72	45	72	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158813762	158813762	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:158813762C>A	ENST00000368141.4	+	4	681	c.420C>A	c.(418-420)aaC>aaA	p.N140K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	140					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N140K(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAACTCCAAACAAAGAAAAGA	0.408																																						uc001fsz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(418-420)AAC>AAA		myeloid cell nuclear differentiation antigen							100.0	94.0	96.0					1																	158813762		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813762C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.420C>A	1.37:g.158813762C>A	ENSP00000357123:p.Asn140Lys						p.N140K	NM_002432	NP_002423	P41218	MNDA_HUMAN			4	620	+	all_hematologic(112;0.0378)		140						Missense_Mutation	SNP	ENST00000368141.4	37	c.420C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	3.654	-0.070913	0.07228	.	.	ENSG00000163563	ENST00000368141	T	0.04502	3.61	2.75	1.79	0.24919	.	2.341370	0.02094	N	0.053373	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.43814	-0.9368	10	0.20046	T	0.44	-0.1873	6.0717	0.19893	0.0:0.8482:0.0:0.1518	.	140	P41218	MNDA_HUMAN	K	140	ENSP00000357123:N140K	ENSP00000357123:N140K	N	+	3	2	MNDA	157080386	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.673000	0.31224	0.563000	0.77884	AAC		PASS	0.408	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		8	153	8	153	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712508	165712508	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:165712508G>C	ENST00000392129.6	-	6	514	c.364C>G	c.(364-366)Ctt>Gtt	p.L122V	TMCO1_ENST00000580248.1_Missense_Mutation_p.L38V|TMCO1_ENST00000367881.5_Missense_Mutation_p.L173V|TMCO1_ENST00000464650.1_Missense_Mutation_p.L38V	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	122						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L122V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATGTAAGAAAGAGGGGTAAAA	0.373																																						uc001gdj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(364-366)CTT>GTT		transmembrane and coiled-coil domains 1							91.0	91.0	91.0					1																	165712508		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712508G>C	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.364C>G	1.37:g.165712508G>C	ENSP00000375975:p.Leu122Val					TMCO1_uc001gdl.3_Missense_Mutation_p.L38V|TMCO1_uc001gdm.3_Missense_Mutation_p.L38V|TMCO1_uc001gdk.3_Missense_Mutation_p.L110V|TMCO1_uc001gdn.3_RNA	p.L122V	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN			6	513	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		122					B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.364C>G		.	.	.	.	.	.	.	.	.	.	G	15.80	2.939961	0.52972	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	N	0.19112	0.55	0.44834	D	0.997848	B;B	0.17038	0.02;0.005	B;B	0.24006	0.05;0.018	T	0.19943	-1.0290	8	0.51188	T	0.08	.	13.477	0.61314	0.075:0.0:0.925:0.0	.	110;122	B7Z591;Q9UM00	.;TMCO1_HUMAN	V	122;103	.	ENSP00000356856:L122V	L	-	1	0	TMCO1	163979132	1.000000	0.71417	0.956000	0.39512	0.998000	0.95712	4.378000	0.59568	1.630000	0.50440	0.655000	0.94253	CTT		PASS	0.373	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		3	81	3	81	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196309572	196309572	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:196309572G>A	ENST00000294725.9	-	16	2597	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	KCNT2_ENST00000451324.2_Missense_Mutation_p.S172L|KCNT2_ENST00000609185.1_Missense_Mutation_p.S511L|KCNT2_ENST00000367431.4_Missense_Mutation_p.S511L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.S561L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	561					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S561L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAAATGCTGAATTCTCTTC	0.358																																						uc001gtd.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(1681-1683)TCA>TTA		potassium channel, subfamily T, member 2							104.0	99.0	101.0					1																	196309572		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309572G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1682C>T	1.37:g.196309572G>A	ENSP00000294725:p.Ser561Leu					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.S511L|KCNT2_uc001gtf.1_Missense_Mutation_p.S561L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.S561L|KCNT2_uc001gth.1_Missense_Mutation_p.S82L	p.S561L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			16	1742	-			561			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1682C>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473403	0.96274	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.34667	2.06;1.93;1.35;2.3	5.84	5.84	0.93424	.	0.000000	0.52532	D	0.000066	T	0.50837	0.1639	M	0.83012	2.62	0.80722	D	1	B;P;B;P;B	0.38335	0.344;0.48;0.281;0.627;0.344	B;B;B;B;B	0.42827	0.1;0.204;0.204;0.399;0.1	T	0.46707	-0.9172	10	0.22706	T	0.39	-14.3671	20.13	0.97997	0.0:0.0:1.0:0.0	.	561;543;561;511;561	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	L	561;511;382;172;561	ENSP00000356403:S561L;ENSP00000356401:S511L;ENSP00000405474:S172L;ENSP00000294725:S561L	ENSP00000294725:S561L	S	-	2	0	KCNT2	194576195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.806000	0.99153	2.751000	0.94390	0.650000	0.86243	TCA		PASS	0.358	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		8	149	8	149	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197404300	197404300	+	Missense_Mutation	SNP	G	G	C	rs62636275		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:197404300G>C	ENST00000367400.3	+	9	3442	c.3307G>C	c.(3307-3309)Gga>Cga	p.G1103R	CRB1_ENST00000538660.1_Intron|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.G991R|CRB1_ENST00000535699.1_Missense_Mutation_p.G1079R|CRB1_ENST00000367397.1_Missense_Mutation_p.G484R|CRB1_ENST00000544212.1_Missense_Mutation_p.G584R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1103	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.		G -> R (in LCA8 and RP12). {ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:19140180, ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:22065545}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1103R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATAGAAATCGGAGGCATTTA	0.368																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9	GRCh37	CM040718|CM057655	CRB1	M	rs62636275	c.(3307-3309)GGA>CGA		crumbs homolog 1 precursor							60.0	64.0	63.0					1																	197404300		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404300G>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3307G>C	1.37:g.197404300G>C	ENSP00000356370:p.Gly1103Arg					CRB1_uc010poz.1_Missense_Mutation_p.G1079R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G991R|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.G584R|CRB1_uc001gub.1_Missense_Mutation_p.G752R	p.G1103R	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3442	+			1103		G -> R (in LCA8 and RP12).	Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3307G>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987170	0.53934	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.7	-3.14	0.05250	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.75451	0.3851	M	0.64170	1.965	0.30234	N	0.795624	D;D;D;D	0.69078	0.997;0.997;0.994;0.995	P;D;D;P	0.68483	0.875;0.958;0.938;0.898	T	0.74047	-0.3790	9	0.56958	D	0.05	.	13.1462	0.59463	0.6665:0.0:0.3335:0.0	.	1079;991;752;1103	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	R	1079;1103;991;584;484;752	ENSP00000438786:G1079R;ENSP00000356370:G1103R;ENSP00000356369:G991R;ENSP00000444556:G584R;ENSP00000356367:G484R	ENSP00000356367:G484R	G	+	1	0	CRB1	195670923	0.012000	0.17670	0.225000	0.23894	0.756000	0.42949	0.304000	0.19228	-0.359000	0.08150	0.650000	0.86243	GGA		PASS	0.368	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		64	46	64	46	---	---	---	---
MYBPH	4608	broad.mit.edu	37	1	203144577	203144577	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:203144577G>T	ENST00000255416.4	-	2	275	c.218C>A	c.(217-219)gCc>gAc	p.A73D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	73	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.A73D(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CAGCAGTGGGGCACTGGGGAC	0.642																																					NSCLC(32;174 1025 14462 23899 42933)	uc001gzh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GCC>GAC		myosin binding protein H							53.0	61.0	58.0					1																	203144577		2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203144577G>T	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.218C>A	1.37:g.203144577G>T	ENSP00000255416:p.Ala73Asp					FMOD_uc010pqi.1_Intron	p.A73D	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	2	277	-			73			Fibronectin type-III 1.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.218C>A	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325545	0.60743	.	.	ENSG00000133055	ENST00000255416	T	0.61742	0.08	5.41	2.29	0.28610	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.979102	0.08341	N	0.960805	T	0.71099	0.3300	M	0.89095	3.005	0.09310	N	0.999999	P	0.39131	0.661	P	0.51516	0.672	T	0.59695	-0.7406	10	0.52906	T	0.07	.	3.3449	0.07132	0.172:0.1417:0.5559:0.1305	.	73	Q13203	MYBPH_HUMAN	D	73	ENSP00000255416:A73D	ENSP00000255416:A73D	A	-	2	0	MYBPH	201411200	0.000000	0.05858	0.988000	0.46212	0.991000	0.79684	0.080000	0.14802	0.664000	0.31047	0.591000	0.81541	GCC		PASS	0.642	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		70	88	70	88	---	---	---	---
C1orf74	148304	broad.mit.edu	37	1	209956220	209956220	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:209956220C>T	ENST00000294811.1	-	2	1016	c.760G>A	c.(760-762)Gat>Aat	p.D254N		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	254								p.D254N(2)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		ATGCTGAGATCAGCAAAGTCA	0.478																																						uc001hhp.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(760-762)GAT>AAT		hypothetical protein LOC148304							108.0	114.0	112.0					1																	209956220		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956220C>T	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.760G>A	1.37:g.209956220C>T	ENSP00000294811:p.Asp254Asn						p.D254N	NM_152485	NP_689698	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	1003	-			254						Missense_Mutation	SNP	ENST00000294811.1	37	c.760G>A	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856924	0.71834	.	.	ENSG00000162757	ENST00000294811	T	0.46451	0.87	5.75	4.83	0.62350	.	0.054702	0.64402	D	0.000001	T	0.44435	0.1293	L	0.53249	1.67	0.80722	D	1	D	0.55605	0.972	P	0.47075	0.536	T	0.29181	-1.0020	10	0.35671	T	0.21	-6.0487	14.1891	0.65625	0.0:0.9286:0.0:0.0714	.	254	Q96LT6	CA074_HUMAN	N	254	ENSP00000294811:D254N	ENSP00000294811:D254N	D	-	1	0	C1orf74	208022843	0.951000	0.32395	1.000000	0.80357	0.991000	0.79684	1.993000	0.40747	2.711000	0.92665	0.655000	0.94253	GAT		PASS	0.478	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		9	171	9	171	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237060905	237060906	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:237060905_237060906GA>TG	ENST00000366577.5	+	33	4153_4154	c.3759_3760GA>TG	c.(3757-3762)gaGAaa>gaTGaa	p.1253_1254EK>DE	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.1202_1203EK>DE	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1253	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.K1254E(1)|p.E1253_K1254>DE(1)|p.E1253D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTGAGGTTGAGAAATGGCTTGG	0.351																																						uc001hyi.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3757-3759)GAG>GAT|c.(3760-3762)AAA>GAA		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)																																			SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237060905G>T|g.chr1:237060906A>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	Exception_encountered	1.37:g.237060905_237060906delinsTG	ENSP00000355536:p.E1253_K1254delinsDE					MTR_uc010pxw.1_Missense_Mutation_p.E846D|MTR_uc010pxx.1_Missense_Mutation_p.E1202D|MTR_uc010pxy.1_Missense_Mutation_p.E1107D|MTR_uc010pxw.1_Missense_Mutation_p.K847E|MTR_uc010pxx.1_Missense_Mutation_p.K1203E|MTR_uc010pxy.1_Missense_Mutation_p.K1108E	p.E1253D|p.K1254E	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	33	4182|4183	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1253|1254			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3759G>T|c.3760A>G	CCDS1614.1																																																																																				PASS	0.351	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		8	265|268	8	265	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237838130	237838130	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr1:237838130G>C	ENST00000366574.2	+	60	9131	c.8814G>C	c.(8812-8814)caG>caC	p.Q2938H	RYR2_ENST00000542537.1_Missense_Mutation_p.Q2922H|RYR2_ENST00000360064.6_Missense_Mutation_p.Q2936H|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2938					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q2936H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCCATCAGTATATCCTGG	0.418																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8812-8814)CAG>CAC		cardiac muscle ryanodine receptor							106.0	101.0	103.0					1																	237838130		1888	4111	5999	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237838130G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8814G>C	1.37:g.237838130G>C	ENSP00000355533:p.Gln2938His					RYR2_uc010pxz.1_5'UTR	p.Q2938H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		60	8934	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2938			Modulator (Potential).|Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8814G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619594	0.46736	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	4.88	1.92	0.25849	.	0.104892	0.38837	U	0.001556	D	0.94079	0.8102	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	P	0.59221	0.854	D	0.91443	0.5175	10	0.38643	T	0.18	.	9.4295	0.38601	0.2958:0.0:0.7042:0.0	.	2938	Q92736	RYR2_HUMAN	H	2938;2936;2922	ENSP00000355533:Q2938H;ENSP00000353174:Q2936H;ENSP00000443798:Q2922H	ENSP00000353174:Q2936H	Q	+	3	2	RYR2	235904753	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.737000	0.38197	0.581000	0.29539	-0.232000	0.12228	CAG		PASS	0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		25	24	25	24	---	---	---	---
CAMKMT	79823	broad.mit.edu	37	2	44617434	44617434	+	Silent	SNP	A	A	T	rs200061850		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:44617434A>T	ENST00000378494.3	+	3	410	c.366A>T	c.(364-366)acA>acT	p.T122T	CAMKMT_ENST00000402247.1_Silent_p.T122T|CAMKMT_ENST00000407131.1_Silent_p.T122T|CAMKMT_ENST00000403853.3_Silent_p.T122T|CAMKMT_ENST00000477623.1_3'UTR	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	122						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)	p.T122T(1)		breast(2)|large_intestine(3)|lung(5)	10						TTGACAATACAGGAAATGTTT	0.289																																						uc002rum.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)ACA>ACT		hypothetical protein LOC79823							89.0	90.0	90.0					2																	44617434		2202	4296	6498	SO:0001819	synonymous_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44617434A>T		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.366A>T	2.37:g.44617434A>T						C2orf34_uc002rul.2_Silent_p.T122T	p.T122T	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN			3	470	+		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)	122					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Silent	SNP	ENST00000378494.3	37	c.366A>T	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	A	9.540	1.113184	0.20795	.	.	ENSG00000143919	ENST00000428929	.	.	.	5.71	3.33	0.38152	.	.	.	.	.	T	0.54695	0.1874	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45948	-0.9226	4	.	.	.	-10.0471	6.2537	0.20861	0.7834:0.0:0.0752:0.1414	.	.	.	.	W	68	.	.	R	+	1	2	CAMKMT	44470938	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.332000	0.33805	0.435000	0.26365	0.533000	0.62120	AGG		PASS	0.289	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		54	56	54	56	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51254867	51254867	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:51254867C>A	ENST00000406316.2	-	2	2021	c.545G>T	c.(544-546)gGg>gTg	p.G182V	NRXN1_ENST00000404971.1_Missense_Mutation_p.G182V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G182V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G182V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G182V|NRXN1_ENST00000405581.1_Missense_Mutation_p.G182V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G182V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	182	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G182V(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACGAATCCACCCCTTGAAGGG	0.697																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(544-546)GGG>GTG		neurexin 1 isoform alpha2 precursor							29.0	36.0	33.0					2																	51254867		2060	4193	6253	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254867C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.545G>T	2.37:g.51254867C>A	ENSP00000384311:p.Gly182Val					NRXN1_uc002rxe.3_Missense_Mutation_p.G182V|NRXN1_uc002rxd.1_Missense_Mutation_p.G182V	p.G182V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2022	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	230			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.545G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275730	0.80580	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.38548	U	0.001651	D	0.99026	0.9667	M	0.91612	3.225	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.295	D;D;B	0.97110	1.0;1.0;0.356	D	0.99620	1.0983	10	0.87932	D	0	.	19.0741	0.93151	0.0:1.0:0.0:0.0	.	182;182;182	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	V	182	ENSP00000385142:G182V;ENSP00000384311:G182V;ENSP00000434015:G182V;ENSP00000385017:G182V;ENSP00000385434:G182V;ENSP00000385681:G182V;ENSP00000385310:G182V	ENSP00000385017:G182V	G	-	2	0	NRXN1	51108371	1.000000	0.71417	0.334000	0.25495	0.886000	0.51366	5.923000	0.70045	2.504000	0.84457	0.563000	0.77884	GGG		PASS	0.697	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	21	4	21	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71838722	71838722	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:71838722C>T	ENST00000258104.3	+	38	4410	c.4133C>T	c.(4132-4134)cCc>cTc	p.P1378L	DYSF_ENST00000409744.1_Missense_Mutation_p.P1365L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1395L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.P1396L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1379L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1379L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1395L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1409L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1378L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1410L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1396L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1378	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.P1378L(1)|p.P1396L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGAAGAACCCCAACTTTGAC	0.582																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4132-4134)CCC>CTC		dysferlin isoform 8							57.0	55.0	55.0					2																	71838722		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71838722C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4133C>T	2.37:g.71838722C>T	ENSP00000258104:p.Pro1378Leu					DYSF_uc010feg.2_Missense_Mutation_p.P1409L|DYSF_uc010feh.2_Missense_Mutation_p.P1364L|DYSF_uc002sig.3_Missense_Mutation_p.P1364L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1378L|DYSF_uc010fef.2_Missense_Mutation_p.P1395L|DYSF_uc010fei.2_Missense_Mutation_p.P1395L|DYSF_uc010fek.2_Missense_Mutation_p.P1396L|DYSF_uc010fej.2_Missense_Mutation_p.P1365L|DYSF_uc010fel.2_Missense_Mutation_p.P1365L|DYSF_uc010feo.2_Missense_Mutation_p.P1410L|DYSF_uc010fem.2_Missense_Mutation_p.P1379L|DYSF_uc010fen.2_Missense_Mutation_p.P1396L|DYSF_uc002sif.2_Missense_Mutation_p.P1379L|DYSF_uc010yqy.1_Missense_Mutation_p.P259L|DYSF_uc010yqz.1_Missense_Mutation_p.P118L	p.P1378L	NM_003494	NP_003485	O75923	DYSF_HUMAN			38	4509	+			1378			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4133C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183414	0.94885	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83;-3.83	5.78	5.78	0.91487	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D	0.98429	1.0581	10	0.52906	T	0.07	-27.1118	17.4989	0.87726	0.0:1.0:0.0:0.0	.	121;1410;1396;1379;1365;1396;1365;1395;1364;1409;1395;1378;1364;1379;1378	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	1409;1395;1395;1378;1378;1410;1379;1365;1379;1396;1396	ENSP00000407046:P1409L;ENSP00000387137:P1395L;ENSP00000386547:P1395L;ENSP00000398305:P1378L;ENSP00000258104:P1378L;ENSP00000386683:P1410L;ENSP00000377678:P1379L;ENSP00000386285:P1365L;ENSP00000386512:P1379L;ENSP00000386881:P1396L;ENSP00000386617:P1396L	ENSP00000258104:P1378L	P	+	2	0	DYSF	71692230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.739000	0.93911	0.561000	0.74099	CCC		PASS	0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		28	45	28	45	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717175	73717175	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:73717175C>T	ENST00000264448.6	+	10	8197	c.8086C>T	c.(8086-8088)Cat>Tat	p.H2696Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.H2654Y|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2696					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.H2696Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGTGGATTTTCATTCTTCATC	0.413																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8092-8094)CAT>TAT		Alstrom syndrome 1							164.0	153.0	156.0					2																	73717175		1866	4101	5967	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717175C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8086C>T	2.37:g.73717175C>T	ENSP00000264448:p.His2696Tyr					ALMS1_uc002sjf.1_Missense_Mutation_p.H2654Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H2084Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H2084Y	p.H2698Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	8203	+			2696					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8092C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806895	0.50421	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06371	3.31;3.31	4.32	2.49	0.30216	.	0.462208	0.18509	N	0.139125	T	0.06645	0.0170	L	0.43152	1.355	0.80722	D	1	B;B;B	0.27656	0.184;0.1;0.1	B;B;B	0.30179	0.112;0.063;0.063	T	0.23547	-1.0185	10	0.59425	D	0.04	.	7.0332	0.24979	0.0:0.7924:0.0:0.2076	.	2696;2654;2696	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	2654;2696	ENSP00000386627:H2654Y;ENSP00000264448:H2696Y	ENSP00000264448:H2696Y	H	+	1	0	ALMS1	73570683	0.984000	0.35163	0.992000	0.48379	0.950000	0.60333	0.336000	0.19823	0.727000	0.32360	0.557000	0.71058	CAT		PASS	0.413	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		46	317	46	317	---	---	---	---
KIAA1211L	343990	broad.mit.edu	37	2	99413924	99413924	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:99413924C>T	ENST00000397899.2	-	8	2824	c.2493G>A	c.(2491-2493)cgG>cgA	p.R831R		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	831								p.R831R(1)									TCCGCTTCTGCCGAGTGACGG	0.612																																						uc002szf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2491-2493)CGG>CGA		hypothetical protein LOC343990							80.0	85.0	84.0					2																	99413924		2082	4206	6288	SO:0001819	synonymous_variant	343990							g.chr2:99413924C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2493G>A	2.37:g.99413924C>T							p.R831R	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			8	2787	-			831						Silent	SNP	ENST00000397899.2	37	c.2493G>A	CCDS42720.1																																																																																				PASS	0.612	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		5	158	5	158	---	---	---	---
NCK2	8440	broad.mit.edu	37	2	106498233	106498233	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:106498233G>C	ENST00000233154.4	+	4	1118	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.E226Q|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	226	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)	p.E226Q(1)		endometrium(1)|lung(3)|ovary(1)	5						GGAGGTGATTGAGAAGCCGGA	0.617																																						uc002tdg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(676-678)GAG>CAG		NCK adaptor protein 2 isoform A							81.0	90.0	87.0					2																	106498233		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498233G>C	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.676G>C	2.37:g.106498233G>C	ENSP00000233154:p.Glu226Gln					NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.E226Q	p.E226Q	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	1118	+			226			SH3 3.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.676G>C	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747692	0.89663	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.54071	0.59;0.59	5.51	5.51	0.81932	Src homology-3 domain (4);	0.044073	0.85682	D	0.000000	T	0.68220	0.2977	L	0.47190	1.495	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.67730	-0.5595	10	0.56958	D	0.05	-11.1828	19.782	0.96420	0.0:0.0:1.0:0.0	.	226	O43639	NCK2_HUMAN	Q	226	ENSP00000233154:E226Q;ENSP00000377018:E226Q	ENSP00000233154:E226Q	E	+	1	0	NCK2	105864665	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.354000	0.97083	2.757000	0.94681	0.462000	0.41574	GAG		PASS	0.617	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		4	136	4	136	---	---	---	---
TMEM87B	84910	broad.mit.edu	37	2	112858261	112858261	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:112858261C>T	ENST00000283206.4	+	15	1808	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	480						integral component of membrane (GO:0016021)		p.S480F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATGGTAACTTCTGAAAATTTA	0.308																																						uc002thm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1438-1440)TCT>TTT		transmembrane protein 87B precursor							79.0	82.0	81.0					2																	112858261		2202	4278	6480	SO:0001583	missense	84910					integral to membrane		g.chr2:112858261C>T	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1439C>T	2.37:g.112858261C>T	ENSP00000283206:p.Ser480Phe						p.S480F	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			15	1808	+			480					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.1439C>T	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641528	0.67244	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.85	5.85	0.93711	.	0.161857	0.56097	D	0.000029	T	0.68540	0.3012	L	0.54323	1.7	0.58432	D	0.999998	D	0.60575	0.988	P	0.59703	0.862	T	0.67699	-0.5603	9	0.49607	T	0.09	-23.05	15.6607	0.77186	0.0:1.0:0.0:0.0	.	480	Q96K49	TM87B_HUMAN	F	480	.	ENSP00000283206:S480F	S	+	2	0	TMEM87B	112574732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.224000	0.65288	2.772000	0.95346	0.650000	0.86243	TCT		PASS	0.308	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		16	77	16	77	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116101447	116101447	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:116101447A>T	ENST00000410059.1	+	3	710	c.230A>T	c.(229-231)aAa>aTa	p.K77I	DPP10_ENST00000393147.2_Missense_Mutation_p.K81I|DPP10_ENST00000409163.1_Missense_Mutation_p.K27I|DPP10_ENST00000310323.8_Missense_Mutation_p.K70I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	77						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.K70I(1)|p.K77I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTCTTTAGGAAAGACTTTGTG	0.338																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(229-231)AAA>ATA		dipeptidyl peptidase 10 isoform long							90.0	93.0	92.0					2																	116101447		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116101447A>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.230A>T	2.37:g.116101447A>T	ENSP00000386565:p.Lys77Ile					DPP10_uc002tlb.1_Missense_Mutation_p.K27I|DPP10_uc002tlc.1_Missense_Mutation_p.K73I|DPP10_uc002tle.2_Missense_Mutation_p.K81I|DPP10_uc002tlf.1_Missense_Mutation_p.K70I	p.K77I	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			3	687	+			77			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.230A>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	33	5.262615	0.95399	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;D;T;T;D	0.96300	0.97;1.51;1.51;-3.97;1.51;1.51;-3.97	5.97	4.81	0.61882	.	0.136270	0.51477	D	0.000088	D	0.93406	0.7897	L	0.48642	1.525	0.39940	D	0.974391	B;B;B;B	0.28512	0.137;0.214;0.084;0.084	B;B;B;B	0.31016	0.123;0.058;0.058;0.058	D	0.90641	0.4575	10	0.42905	T	0.14	-15.6999	8.954	0.35807	0.9163:0.0:0.0837:0.0	.	70;81;73;77	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	27;77;27;73;81;70;27;27	ENSP00000391092:K27I;ENSP00000386565:K77I;ENSP00000387038:K27I;ENSP00000376854:K73I;ENSP00000376855:K81I;ENSP00000309066:K70I;ENSP00000402499:K27I	ENSP00000309066:K70I	K	+	2	0	DPP10	115817917	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.462000	0.53042	1.076000	0.40961	0.477000	0.44152	AAA		PASS	0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		8	100	8	100	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098806	178098806	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:178098806G>T	ENST00000397062.3	-	2	793	c.239C>A	c.(238-240)aCa>aAa	p.T80K	NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	80					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.T80K(3)|p.T80R(2)|p.T80I(1)		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)			AAATTCACCTGTCTCTTCATC	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		6	Substitution - Missense(6)		lung(2)|oesophagus(2)|upper_aerodigestive_tract(1)|endometrium(1)	central_nervous_system(1)	1						c.(238-240)ACA>AAA		nuclear factor erythroid 2-like 2 isoform 1							146.0	145.0	145.0					2																	178098806		1901	4109	6010	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.chr2:178098806G>T		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.239C>A	2.37:g.178098806G>T	ENSP00000380252:p.Thr80Lys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.T64K|NFE2L2_uc010zfa.1_Missense_Mutation_p.T64K|NFE2L2_uc002uli.3_Missense_Mutation_p.T64K|NFE2L2_uc010fra.2_Missense_Mutation_p.T64K|NFE2L2_uc010frb.2_Missense_Mutation_p.T64K	p.T80K	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	794	-			80	T->A: Loss of interaction with KEAP1.				B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.239C>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264788	0.80358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	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	0.91635	0.997;0.994;0.999;0.997	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:0.0:1.0:0.0	.	64;64;64;80	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	64;80;64;64;64;64;64	ENSP00000380253:T64K;ENSP00000380252:T80K;ENSP00000411575:T64K;ENSP00000391590:T64K;ENSP00000400073:T64K;ENSP00000412191:T64K;ENSP00000410015:T64K	ENSP00000380252:T80K	T	-	2	0	NFE2L2	177807052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.737000	0.93849	0.563000	0.77884	ACA		PASS	0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		91	94	91	94	---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179325085	179325085	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:179325085C>T	ENST00000409117.3	+	6	1034	c.678C>T	c.(676-678)gtC>gtT	p.V226V	DFNB59_ENST00000375129.4_Silent_p.V226V	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	226					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.V226V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ACCTTTGTGTCACTTCAGTGT	0.318																																						uc002umi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(676-678)GTC>GTT		deafness, autosomal recessive 59							84.0	78.0	80.0					2																	179325085		1824	4081	5905	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179325085C>T	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.678C>T	2.37:g.179325085C>T						DFNB59_uc002umj.3_Silent_p.V226V	p.V226V	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		6	1034	+			226					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.678C>T	CCDS42787.1																																																																																				PASS	0.318	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			9	54	9	54	---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183050765	183050765	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:183050765C>T	ENST00000410103.1	-	14	1501	c.1418G>A	c.(1417-1419)aGa>aAa	p.R473K	PDE1A_ENST00000358139.2_Missense_Mutation_p.R473K|PDE1A_ENST00000435564.1_Missense_Mutation_p.R473K|PDE1A_ENST00000346717.4_Missense_Mutation_p.R439K|PDE1A_ENST00000409365.1_Missense_Mutation_p.R457K|PDE1A_ENST00000456212.1_Missense_Mutation_p.R473K|PDE1A_ENST00000331935.6_Missense_Mutation_p.R473K|PDE1A_ENST00000536095.1_Missense_Mutation_p.R369K|PDE1A_ENST00000351439.5_Missense_Mutation_p.R457K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	473	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R473K(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATTTGATCGTCTTAGTGCATC	0.458																																						uc002uos.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1417-1419)AGA>AAA		phosphodiesterase 1A isoform 2							164.0	138.0	147.0					2																	183050765		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183050765C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1418G>A	2.37:g.183050765C>T	ENSP00000387037:p.Arg473Lys					PDE1A_uc010zfp.1_Missense_Mutation_p.R369K|PDE1A_uc002uoq.1_Missense_Mutation_p.R473K|PDE1A_uc010zfq.1_Missense_Mutation_p.R473K|PDE1A_uc002uor.2_Missense_Mutation_p.R457K|PDE1A_uc002uou.2_Missense_Mutation_p.R439K	p.R473K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		14	1502	-			473			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1418G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	3.463	-0.109650	0.06924	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.38;-0.37;-0.38;-0.39;-0.39;-0.39;-0.39;-0.32	5.66	3.77	0.43336	.	1.285790	0.04578	N	0.394528	T	0.50582	0.1624	N	0.24115	0.695	0.19300	N	0.999976	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.002;0.002	T	0.34204	-0.9838	10	0.02654	T	1	.	9.6552	0.39921	0.0:0.8236:0.0:0.1764	.	369;439;473;457;473	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	K	473;439;369;457;473;457;473;473;473	ENSP00000410309:R473K;ENSP00000329112:R439K;ENSP00000439938:R369K;ENSP00000386767:R457K;ENSP00000331574:R473K;ENSP00000309269:R457K;ENSP00000387037:R473K;ENSP00000350858:R473K;ENSP00000408874:R473K	ENSP00000331574:R473K	R	-	2	0	PDE1A	182759010	0.994000	0.37717	0.723000	0.30687	0.040000	0.13550	0.536000	0.23129	1.444000	0.47605	0.655000	0.94253	AGA		PASS	0.458	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			17	57	17	57	---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190569787	190569787	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:190569787T>G	ENST00000520309.1	+	8	1835	c.1747T>G	c.(1747-1749)Tta>Gta	p.L583V	ANKAR_ENST00000313581.4_Missense_Mutation_p.L583V|ANKAR_ENST00000431575.2_Missense_Mutation_p.L512V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L347V|ANKAR_ENST00000438402.2_Missense_Mutation_p.L583V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	583						integral component of membrane (GO:0016021)		p.L512V(1)|p.L583V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GGCTTGCTCATTAGAAACAAC	0.423																																						uc002uqw.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1534-1536)TTA>GTA		ankyrin and armadillo repeat containing							155.0	128.0	137.0					2																	190569787		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190569787T>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1747T>G	2.37:g.190569787T>G	ENSP00000427882:p.Leu583Val					ANKAR_uc002uqu.2_RNA	p.L512V	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		7	1534	+			583			ANK 2.		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1534T>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547260	0.65311	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.63	-2.2	0.06994	.	0.386473	0.18783	N	0.131269	T	0.65831	0.2729	L	0.46819	1.47	0.09310	N	1	.	.	.	.	.	.	T	0.65809	-0.6078	8	0.66056	D	0.02	-11.0163	15.1519	0.72706	0.0:0.7526:0.0:0.2474	.	.	.	.	V	583;583;583;512;347	ENSP00000427882:L583V;ENSP00000313513:L583V;ENSP00000397243:L583V;ENSP00000393043:L512V;ENSP00000281412:L347V	ENSP00000281412:L347V	L	+	1	2	ANKAR	190278032	0.028000	0.19301	0.002000	0.10522	0.888000	0.51559	0.074000	0.14662	-0.385000	0.07833	0.459000	0.35465	TTA		PASS	0.423	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		45	77	45	77	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196602694	196602694	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:196602694T>G	ENST00000312428.6	-	65	12126	c.12026A>C	c.(12025-12027)gAa>gCa	p.E4009A	DNAH7_ENST00000409063.1_Missense_Mutation_p.E492A|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4009					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.E4009A(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCCAGTGTTCCTTGGGTTG	0.443																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(12025-12027)GAA>GCA		dynein, axonemal, heavy chain 7							77.0	77.0	77.0					2																	196602694		1933	4136	6069	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196602694T>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.12026A>C	2.37:g.196602694T>G	ENSP00000311273:p.Glu4009Ala					DNAH7_uc002uti.3_Missense_Mutation_p.E492A	p.E4009A	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			65	12127	-			4009					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.12026A>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416843	0.25552	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.40756	1.02;1.02	4.51	4.51	0.55191	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	L	0.45581	1.43	0.80722	D	1	B	0.33022	0.394	B	0.38327	0.271	T	0.15780	-1.0425	10	0.17832	T	0.49	.	14.2595	0.66076	0.0:0.0:0.0:1.0	.	4009	Q8WXX0	DYH7_HUMAN	A	4009;492	ENSP00000311273:E4009A;ENSP00000386912:E492A	ENSP00000311273:E4009A	E	-	2	0	DNAH7	196310939	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.936000	0.70153	2.006000	0.58801	0.477000	0.44152	GAA		PASS	0.443	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		37	50	37	50	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207172827	207172827	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:207172827A>G	ENST00000374423.3	+	5	3961	c.3575A>G	c.(3574-3576)aAt>aGt	p.N1192S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1192							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N1192S(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGTAAGCACAATCAATGTTGT	0.408																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3574-3576)AAT>AGT		zinc finger, DBF-type containing 2							108.0	104.0	106.0					2																	207172827		1910	4138	6048	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172827A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3575A>G	2.37:g.207172827A>G	ENSP00000363545:p.Asn1192Ser						p.N1192S	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	3825	+			1192					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3575A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	7.101	0.574072	0.13623	.	.	ENSG00000204186	ENST00000374423	T	0.50277	0.75	4.1	-4.34	0.03666	.	.	.	.	.	T	0.25082	0.0609	N	0.12887	0.27	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.29549	-1.0008	9	0.16420	T	0.52	.	11.9989	0.53219	0.3321:0.0:0.6679:0.0	.	1192	Q9HCK1	ZDBF2_HUMAN	S	1192	ENSP00000363545:N1192S	ENSP00000363545:N1192S	N	+	2	0	ZDBF2	206881072	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.913000	0.01580	-0.847000	0.04168	-1.113000	0.02065	AAT		PASS	0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		43	66	43	66	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211513234	211513234	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:211513234C>A	ENST00000233072.5	+	27	3570	c.3374C>A	c.(3373-3375)cCc>cAc	p.P1125H	CPS1_ENST00000430249.2_Missense_Mutation_p.P1131H|CPS1_ENST00000451903.2_Missense_Mutation_p.P674H	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1125	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.P1131H(1)|p.P1125H(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTGGACTACCCCTGCTTGTTG	0.328																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3373-3375)CCC>CAC		carbamoyl-phosphate synthetase 1 isoform b							167.0	158.0	161.0					2																	211513234		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211513234C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3374C>A	2.37:g.211513234C>A	ENSP00000233072:p.Pro1125His					CPS1_uc010fur.2_Missense_Mutation_p.P1131H|CPS1_uc010fus.2_Missense_Mutation_p.P674H	p.P1125H	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	27	3506	+			1125			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3374C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410649	0.83340	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.99598	-6.26;-6.26;-6.26	6.17	6.17	0.99709	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96713	0.9527	10	0.87932	D	0	-8.9033	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1135;1125	Q59HF8;P31327	.;CPSM_HUMAN	H	1131;1133;1125;674	ENSP00000402608:P1131H;ENSP00000233072:P1125H;ENSP00000406136:P674H	ENSP00000233072:P1125H	P	+	2	0	CPS1	211221479	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	5.379000	0.66196	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.328	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			56	121	56	121	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228996798	228996798	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr2:228996798G>T	ENST00000392056.3	-	2	82	c.36C>A	c.(34-36)aaC>aaA	p.N12K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N12K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	12						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N12K(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGACTCCAAGTTGCTGTTTG	0.443																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(34-36)AAC>AAA		sphingosine kinase type 1-interacting protein							81.0	81.0	81.0					2																	228996798		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228996798G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.36C>A	2.37:g.228996798G>T	ENSP00000375909:p.Asn12Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.N12K|SPHKAP_uc010zlx.1_Missense_Mutation_p.N12K	p.N12K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	2	83	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	12					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.36C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008699	0.35415	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42513	0.97;0.97	5.93	0.993	0.19825	.	0.727039	0.13521	N	0.381711	T	0.26521	0.0648	N	0.24115	0.695	0.18873	N	0.999987	B;B	0.12013	0.003;0.005	B;B	0.09377	0.002;0.004	T	0.20907	-1.0261	10	0.72032	D	0.01	.	7.1376	0.25537	0.1582:0.4547:0.3871:0.0	.	12;12	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	12	ENSP00000375909:N12K;ENSP00000339886:N12K	ENSP00000339886:N12K	N	-	3	2	SPHKAP	228705042	0.423000	0.25482	0.665000	0.29768	0.711000	0.40976	0.638000	0.24674	0.109000	0.17891	-0.175000	0.13238	AAC		PASS	0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		13	99	13	99	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9506324	9506324	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:9506324G>A	ENST00000406341.1	+	17	2882	c.2692G>A	c.(2692-2694)Gct>Act	p.A898T	SETD5_ENST00000402198.1_Missense_Mutation_p.A898T|SETD5_ENST00000402466.1_Missense_Mutation_p.A800T|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.A917T|SETD5_ENST00000302463.6_Missense_Mutation_p.A800T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	898								p.A800T(1)|p.A898T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCTTACTACTGCTAGTCGCTG	0.473																																						uc003brt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2692-2694)GCT>ACT		SET domain containing 5							137.0	133.0	135.0					3																	9506324		1985	4172	6157	SO:0001583	missense	55209							g.chr3:9506324G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2692G>A	3.37:g.9506324G>A	ENSP00000383939:p.Ala898Thr					SETD5_uc003brs.1_Missense_Mutation_p.A879T|SETD5_uc003bru.2_Missense_Mutation_p.A800T|SETD5_uc003brv.2_Missense_Mutation_p.A787T|SETD5_uc010hck.2_Missense_Mutation_p.A380T|SETD5_uc003brx.2_Missense_Mutation_p.A567T	p.A898T	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	18	3127	+	Medulloblastoma(99;0.227)		898					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2692G>A	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.57|17.57	3.423530|3.423530	0.62733|0.62733	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.93076|.	-2.83;-3.16;-2.83;-2.83;-3.16|.	5.05|5.05	4.1|4.1	0.47936|0.47936	.|.	0.253628|.	0.38326|.	N|.	0.001729|.	T|T	0.50137|0.50137	0.1598|0.1598	N|N	0.19112|0.19112	0.55|0.55	0.43688|0.43688	D|D	0.996137|0.996137	B;B;B;P|.	0.42908|.	0.173;0.02;0.005;0.793|.	B;B;B;B|.	0.35655|.	0.038;0.019;0.006;0.207|.	T|T	0.41179|0.41179	-0.9523|-0.9523	10|5	0.66056|.	D|.	0.02|.	-16.0861|-16.0861	15.0379|15.0379	0.71764|0.71764	0.0:0.0:0.8571:0.1429|0.0:0.0:0.8571:0.1429	.|.	567;800;898;917|.	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3|.	.;.;SETD5_HUMAN;.|.	T|Y	898;800;898;917;800|565;209	ENSP00000385852:A898T;ENSP00000384429:A800T;ENSP00000383939:A898T;ENSP00000384114:A917T;ENSP00000302028:A800T|.	ENSP00000302028:A800T|.	A|C	+|+	1|2	0|0	SETD5|SETD5	9481324|9481324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.906000|2.906000	0.48735|0.48735	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GCT|TGC		PASS	0.473	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		57	115	57	115	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9788941	9788941	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:9788941C>T	ENST00000457855.1	+	13	3564	c.3553C>T	c.(3553-3555)Cgc>Tgc	p.R1185C	OGG1_ENST00000383826.5_5'Flank|OGG1_ENST00000339511.5_5'Flank|BRPF1_ENST00000383829.2_Missense_Mutation_p.R1191C|BRPF1_ENST00000424362.1_Missense_Mutation_p.R1184C|OGG1_ENST00000344629.7_5'Flank|OGG1_ENST00000302003.7_5'Flank|BRPF1_ENST00000433861.2_Missense_Mutation_p.R1090C|OGG1_ENST00000302036.7_5'Flank|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000449570.2_5'Flank|OGG1_ENST00000302008.8_5'Flank|BRPF1_ENST00000302054.3_Missense_Mutation_p.R1185C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1185					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1191C(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTCCAACATCCGCAAGTCAGT	0.572																																						uc003bse.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3553-3555)CGC>TGC		bromodomain and PHD finger-containing protein 1							138.0	118.0	124.0					3																	9788941		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788941C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3553C>T	3.37:g.9788941C>T	ENSP00000410210:p.Arg1185Cys					BRPF1_uc003bsf.2_Missense_Mutation_p.R1191C|BRPF1_uc003bsg.2_Missense_Mutation_p.R1184C|BRPF1_uc011ati.1_Missense_Mutation_p.R1090C|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank	p.R1185C	NM_004634	NP_004625	P55201	BRPF1_HUMAN			14	3952	+	Medulloblastoma(99;0.227)		1185					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3553C>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402677	0.83230	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.79784	0.989;0.993;0.888;0.975	T	0.43988	-0.9357	10	0.87932	D	0	.	19.8897	0.96925	0.0:1.0:0.0:0.0	.	1090;1184;1191;1185	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	1090;1184;1191;1185;1185	ENSP00000402485:R1090C;ENSP00000398863:R1184C;ENSP00000373340:R1191C;ENSP00000306297:R1185C;ENSP00000410210:R1185C	ENSP00000306297:R1185C	R	+	1	0	BRPF1	9763941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.549000	0.60726	2.804000	0.96469	0.462000	0.41574	CGC		PASS	0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		13	122	13	122	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52522260	52522260	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:52522260A>T	ENST00000479054.1	+	17	2824	c.2752A>T	c.(2752-2754)Aac>Tac	p.N918Y	NISCH_ENST00000345716.4_Missense_Mutation_p.N918Y			Q9Y2I1	NISCH_HUMAN	nischarin	918					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.N918Y(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCAGCACCTCAACGTCATCAA	0.647																																						uc011beg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2752-2754)AAC>TAC		nischarin							97.0	81.0	86.0					3																	52522260		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522260A>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2752A>T	3.37:g.52522260A>T	ENSP00000418232:p.Asn918Tyr					NISCH_uc003ded.3_Missense_Mutation_p.N918Y|NISCH_uc003dee.3_Missense_Mutation_p.N407Y|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	p.N918Y	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	2824	+			918					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2752A>T	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	A	1.986	-0.432991	0.04669	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.06933	3.24;3.24	5.21	3.98	0.46160	.	0.372017	0.31370	N	0.007764	T	0.03477	0.0100	N	0.12182	0.205	0.29577	N	0.84943	B	0.22683	0.073	B	0.17433	0.018	T	0.37244	-0.9714	10	0.05436	T	0.98	-37.7892	6.9115	0.24338	0.6309:0.2304:0.0:0.1387	.	918	Q9Y2I1	NISCH_HUMAN	Y	918;918;262	ENSP00000418232:N918Y;ENSP00000339958:N918Y	ENSP00000339958:N918Y	N	+	1	0	NISCH	52497300	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	2.265000	0.43311	1.971000	0.57363	0.379000	0.24179	AAC		PASS	0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		7	40	7	40	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77542433	77542433	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:77542433G>C	ENST00000461745.1	+	5	1606	c.706G>C	c.(706-708)Gta>Cta	p.V236L	ROBO2_ENST00000487694.3_Missense_Mutation_p.V252L|ROBO2_ENST00000332191.8_Missense_Mutation_p.V236L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	236	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V236L(1)|p.V252L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TAACCAGGTGGTACTGGAGGA	0.403																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(706-708)GTA>CTA		roundabout, axon guidance receptor, homolog 2							133.0	120.0	124.0					3																	77542433		1873	4116	5989	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77542433G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.706G>C	3.37:g.77542433G>C	ENSP00000417164:p.Val236Leu					ROBO2_uc003dpz.2_Missense_Mutation_p.V236L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V236L	p.V236L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	5	1349	+			236			Ig-like C2-type 3.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.706G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917530	0.73098	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.70986	-0.53;-0.53;-0.53	5.88	4.83	0.62350	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.204155	0.23612	U	0.046323	T	0.71358	0.3330	M	0.68593	2.085	0.42105	D	0.991350	B;P;P	0.37083	0.364;0.538;0.581	B;B;B	0.41646	0.261;0.273;0.362	T	0.77523	-0.2556	9	0.38643	T	0.18	.	13.63	0.62189	0.1265:0.0:0.8735:0.0	.	252;236;236	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	252;252;252;236;236	ENSP00000417335:V252L;ENSP00000417164:V236L;ENSP00000327536:V236L	ENSP00000327536:V236L	V	+	1	0	ROBO2	77625123	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.868000	0.63021	2.791000	0.96007	0.491000	0.48974	GTA		PASS	0.403	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		14	100	14	100	---	---	---	---
POU1F1	5449	broad.mit.edu	37	3	87311291	87311291	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:87311291G>A	ENST00000350375.2	-	4	658	c.534C>T	c.(532-534)ctC>ctT	p.L178L	POU1F1_ENST00000344265.3_Silent_p.L204L|POU1F1_ENST00000560656.1_Intron	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	178	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L178L(1)|p.L204L(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTTTAAAGCTGAGCTGCAGAT	0.453																																						uc003dqq.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(532-534)CTC>CTT		pituitary specific transcription factor 1							134.0	126.0	129.0					3																	87311291		2203	4300	6503	SO:0001819	synonymous_variant	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87311291G>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.534C>T	3.37:g.87311291G>A						POU1F1_uc010hoj.1_Silent_p.L204L	p.L178L	NM_000306	NP_000297	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	4	659	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	178			POU-specific.		O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Silent	SNP	ENST00000350375.2	37	c.534C>T	CCDS2919.1																																																																																				PASS	0.453	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		4	116	4	116	---	---	---	---
NFKBIZ	64332	broad.mit.edu	37	3	101576185	101576185	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:101576185G>A	ENST00000326172.5	+	11	2100	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R540Q|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R562Q	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	662	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R662Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TTGCAGTATCGGTTGACACAA	0.483																																						uc003dvp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1984-1986)CGG>CAG		nuclear factor of kappa light polypeptide gene							100.0	92.0	94.0					3																	101576185		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101576185G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1985G>A	3.37:g.101576185G>A	ENSP00000325663:p.Arg662Gln					NFKBIZ_uc003dvo.2_Missense_Mutation_p.R562Q|NFKBIZ_uc010hpo.2_Missense_Mutation_p.R562Q|NFKBIZ_uc003dvq.2_Missense_Mutation_p.R540Q	p.R662Q	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			11	2100	+			662			Interaction with NFKB1/p50 (By similarity).|ANK 7.		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1985G>A	CCDS2946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.38|17.38	3.376089|3.376089	0.61735|0.61735	.|.	.|.	ENSG00000144802|ENSG00000144802	ENST00000477601|ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.|T;T;T;T	.|0.57273	.|0.47;0.41;0.54;0.48	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59224|0.59224	0.2178|0.2178	N|N	0.13235|0.13235	0.315|0.315	0.44685|0.44685	D|D	0.997679|0.997679	.|D;D	.|0.89917	.|0.999;1.0	.|P;D	.|0.74023	.|0.867;0.982	T|T	0.59941|0.59941	-0.7359|-0.7359	5|10	.|0.39692	.|T	.|0.17	-16.9092|-16.9092	20.452|20.452	0.99131|0.99131	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|540;662	.|Q9BYH8-3;Q9BYH8	.|.;IKBZ_HUMAN	S|Q	74|562;562;540;662	.|ENSP00000419800:R562Q;ENSP00000377618:R562Q;ENSP00000325593:R540Q;ENSP00000325663:R662Q	.|ENSP00000325593:R540Q	G|R	+|+	1|2	0|0	NFKBIZ|NFKBIZ	103058875|103058875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.140000|0.140000	0.21249|0.21249	4.053000|4.053000	0.57427|0.57427	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	GGT|CGG		PASS	0.483	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		16	156	16	156	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118624493	118624493	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:118624493G>C	ENST00000393775.2	-	5	958	c.653C>G	c.(652-654)tCt>tGt	p.S218C	IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000425327.2_Missense_Mutation_p.S217C|IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000491903.1_Missense_Mutation_p.S218C|IGSF11_ENST00000354673.2_Missense_Mutation_p.S217C	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	218	Ig-like C2-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S218C(1)|p.S217C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATAGCATTAGAAGCCACGCA	0.463																																						uc003ebw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(652-654)TCT>TGT		immunoglobulin superfamily, member 11 isoform b							127.0	124.0	125.0					3																	118624493		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118624493G>C	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.653C>G	3.37:g.118624493G>C	ENSP00000377370:p.Ser218Cys					IGSF11_uc011biv.1_Missense_Mutation_p.S218C|IGSF11_uc003ebx.2_Intron|IGSF11_uc003eby.2_Missense_Mutation_p.S217C|IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Missense_Mutation_p.S217C	p.S218C	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			5	900	-			218			Ig-like C2-type.|Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.653C>G	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224104	0.79576	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000354673;ENST00000491903	T;T;T;T	0.03831	3.79;3.79;3.79;3.79	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102387	0.64402	D	0.000002	T	0.27489	0.0675	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.996;0.999	T	0.01492	-1.1341	10	0.72032	D	0.01	.	18.3184	0.90229	0.0:0.0:1.0:0.0	.	218;217;218	C9JBA5;Q5DX21-2;Q5DX21	.;.;IGS11_HUMAN	C	217;218;217;218	ENSP00000406092:S217C;ENSP00000377370:S218C;ENSP00000346700:S217C;ENSP00000417413:S218C	ENSP00000346700:S217C	S	-	2	0	IGSF11	120107183	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.339000	0.65953	2.880000	0.98712	0.655000	0.94253	TCT		PASS	0.463	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			7	162	7	162	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121643880	121643880	+	Splice_Site	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:121643880C>T	ENST00000489711.1	+	13	1512	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	SLC15A2_ENST00000295605.2_Splice_Site_p.S344L|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	375					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.S375L(1)|p.S375*(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATTAACTTCTCGTAAGTGTTC	0.378																																						uc003eep.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	skin(1)	1						c.(1123-1125)TCA>TTA		peptide transporter 2 isoform a	Cefadroxil(DB01140)						287.0	274.0	278.0					3																	121643880		2203	4300	6503	SO:0001630	splice_region_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121643880C>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1124+1C>T	3.37:g.121643880C>T						SLC15A2_uc011bjn.1_Missense_Mutation_p.S344L	p.S375L	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	13	1277	+			375					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1124C>T	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344018	0.61073	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.60171	0.21;0.21	5.8	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);	0.219576	0.46145	D	0.000304	T	0.56572	0.1994	M	0.69358	2.11	0.46849	D	0.999226	B;B	0.26775	0.147;0.159	B;B	0.29598	0.042;0.104	T	0.59810	-0.7384	10	0.66056	D	0.02	-2.2545	12.1051	0.53807	0.2941:0.7059:0.0:0.0	.	344;375	B4E2A7;Q16348	.;S15A2_HUMAN	L	375;337;344	ENSP00000417085:S375L;ENSP00000295605:S344L	ENSP00000295605:S344L	S	+	2	0	SLC15A2	123126570	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.941000	0.49011	2.751000	0.94390	0.650000	0.86243	TCA		PASS	0.378	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	Missense_Mutation	70	409	70	409	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			48	77	48	77	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192635435	192635435	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr3:192635435G>T	ENST00000392452.2	-	1	515	c.195C>A	c.(193-195)ttC>ttA	p.F65L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	65							protein complex binding (GO:0032403)	p.F63L(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGGAAAAGATGAAATCCTTGG	0.517																																						uc011bsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)TTC>TTA		hypothetical protein LOC151963							116.0	103.0	107.0					3																	192635435		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192635435G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.195C>A	3.37:g.192635435G>T	ENSP00000376246:p.Phe65Leu						p.F65L	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	1	516	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		65					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.195C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264530	0.59431	.	.	ENSG00000180611	ENST00000392452	T	0.57107	0.42	5.77	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.46157	1.445	0.53688	D	0.999978	B	0.17667	0.023	B	0.14023	0.01	T	0.30357	-0.9981	10	0.23891	T	0.37	.	11.8135	0.52195	0.0:0.1327:0.7294:0.1379	.	65	Q8IYB1	M21D2_HUMAN	L	65	ENSP00000376246:F65L	ENSP00000376246:F65L	F	-	3	2	MB21D2	194118129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.449000	0.73473	1.407000	0.46875	0.591000	0.81541	TTC		PASS	0.517	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		10	137	10	137	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3134309	3134309	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr4:3134309A>G	ENST00000355072.5	+	17	2402	c.2257A>G	c.(2257-2259)Atc>Gtc	p.I753V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	753					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.I753V(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGTCTCAGACATCTTGAACTA	0.478																																						uc011bvq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2263-2265)ATC>GTC		huntingtin							64.0	65.0	65.0					4																	3134309		1963	4151	6114	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3134309A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2257A>G	4.37:g.3134309A>G	ENSP00000347184:p.Ile753Val						p.I755V	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	18	2408	+		all_epithelial(65;0.18)	753					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2263A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336965	0.24253	.	.	ENSG00000197386	ENST00000355072	T	0.66099	-0.19	4.91	-5.39	0.02664	Armadillo-like helical (1);Armadillo-type fold (1);	0.552366	0.19948	N	0.102482	T	0.40196	0.1107	N	0.19112	0.55	0.34940	D	0.750209	B	0.06786	0.001	B	0.06405	0.002	T	0.04347	-1.0958	10	0.35671	T	0.21	.	13.0755	0.59085	0.5667:0.0:0.4333:0.0	.	753	P42858	HD_HUMAN	V	753	ENSP00000347184:I753V	ENSP00000347184:I753V	I	+	1	0	HTT	3104107	0.544000	0.26441	0.341000	0.25589	0.963000	0.63663	0.054000	0.14205	-0.918000	0.03808	0.533000	0.62120	ATC		PASS	0.478	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		6	42	6	42	---	---	---	---
LYAR	55646	broad.mit.edu	37	4	4269734	4269734	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr4:4269734T>C	ENST00000343470.4	-	10	1262	c.1022A>G	c.(1021-1023)tAc>tGc	p.Y341C	LYAR_ENST00000452476.1_Missense_Mutation_p.Y341C	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	341	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Y341C(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCACTGTGTAGTACTGAGC	0.353																																						uc011bvy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)TAC>TGC		Ly1 antibody reactive homolog							84.0	79.0	81.0					4																	4269734		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4269734T>C	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.1022A>G	4.37:g.4269734T>C	ENSP00000345917:p.Tyr341Cys					LYAR_uc011bvx.1_Missense_Mutation_p.Y224C|LYAR_uc003ght.2_Missense_Mutation_p.Y341C	p.Y341C	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	10	1165	-			341			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.1022A>G	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827736	0.32329	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.32515	1.45;1.45	6.07	3.57	0.40892	.	0.459759	0.27122	N	0.020839	T	0.42177	0.1191	M	0.68952	2.095	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.25433	-1.0132	10	0.62326	D	0.03	-5.294	7.8734	0.29580	0.1231:0.0671:0.0:0.8098	.	341	Q9NX58	LYAR_HUMAN	C	341	ENSP00000345917:Y341C;ENSP00000397367:Y341C	ENSP00000345917:Y341C	Y	-	2	0	LYAR	4320635	0.489000	0.26004	0.002000	0.10522	0.872000	0.50106	2.831000	0.48144	1.128000	0.42052	0.533000	0.62120	TAC		PASS	0.353	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		11	38	11	38	---	---	---	---
GNPDA2	132789	broad.mit.edu	37	4	44713069	44713069	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr4:44713069A>C	ENST00000295448.3	-	5	651	c.495T>G	c.(493-495)gaT>gaG	p.D165E	GNPDA2_ENST00000507917.1_Missense_Mutation_p.D131E|GNPDA2_ENST00000509756.1_Missense_Mutation_p.D165E|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507534.1_Missense_Mutation_p.D95E	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	165					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.D165E(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CCAAGATGGTATCCATTGCTA	0.403																																					Colon(54;743 1010 7604 16453 19544)	uc003gwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)GAT>GAG		glucosamine-6-phosphate deaminase 2							121.0	112.0	115.0					4																	44713069		2203	4300	6503	SO:0001583	missense	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44713069A>C	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.495T>G	4.37:g.44713069A>C	ENSP00000295448:p.Asp165Glu					GNPDA2_uc010iga.2_Missense_Mutation_p.D131E|GNPDA2_uc011bzb.1_Missense_Mutation_p.D95E|GNPDA2_uc003gwz.1_Missense_Mutation_p.D165E	p.D165E	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			5	652	-			165					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Missense_Mutation	SNP	ENST00000295448.3	37	c.495T>G	CCDS3469.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431922	0.43122	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000507534;ENST00000509756	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.34	1.39	0.22231	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.25332	0.735	0.54753	D	0.999985	B;B;B	0.19935	0.04;0.0;0.003	B;B;B	0.24269	0.052;0.002;0.015	T	0.07028	-1.0794	10	0.39692	T	0.17	-14.198	10.4745	0.44657	0.3122:0.0:0.6878:0.0	.	131;165;165	Q2VYF1;Q8TDQ7-3;Q8TDQ7	.;.;GNPI2_HUMAN	E	131;165;95;165	ENSP00000425868:D131E;ENSP00000295448:D165E;ENSP00000427423:D95E;ENSP00000424061:D165E	ENSP00000295448:D165E	D	-	3	2	GNPDA2	44407826	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.532000	0.45659	0.377000	0.24735	-0.911000	0.02809	GAT		PASS	0.403	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		11	78	11	78	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62903513	62903513	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr4:62903513C>G	ENST00000514591.1	+	23	3781	c.3452C>G	c.(3451-3453)tCc>tGc	p.S1151C	LPHN3_ENST00000507625.1_Missense_Mutation_p.S1210C|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1210C|LPHN3_ENST00000508946.1_Missense_Mutation_p.S1151C|LPHN3_ENST00000512091.2_Missense_Mutation_p.S1151C|LPHN3_ENST00000545650.1_Missense_Mutation_p.S1151C|LPHN3_ENST00000514157.1_Missense_Mutation_p.S1142C|LPHN3_ENST00000504896.1_Missense_Mutation_p.S1151C|LPHN3_ENST00000514996.1_Missense_Mutation_p.S1142C|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1210C|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1219C|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1210C|LPHN3_ENST00000506700.1_Missense_Mutation_p.S1142C|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1219C|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1219C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1129					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.S1151C(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGAGAGTTCCATTGGTTCA	0.398																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3451-3453)TCC>TGC		latrophilin 3 precursor							143.0	145.0	144.0					4																	62903513		1976	4178	6154	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903513C>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3452C>G	4.37:g.62903513C>G	ENSP00000422533:p.Ser1151Cys					LPHN3_uc003hcq.3_Missense_Mutation_p.S1151C|LPHN3_uc003hct.2_Missense_Mutation_p.S535C	p.S1151C	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			21	3625	+			1129			Cytoplasmic (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3452C>G	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.588131|4.588131	0.86851|0.86851	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.56611	.|0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.33|5.33	5.33|5.33	0.75918|0.75918	.|GPCR, family 2, latrophilin, C-terminal (1);	.|0.196198	.|0.46145	.|D	.|0.000302	T|T	0.68622|0.68622	0.3021|0.3021	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.85130	.|0.946;0.946;0.997	T|T	0.70193|0.70193	-0.4939|-0.4939	5|10	.|0.72032	.|D	.|0.01	.|.	19.3821|19.3821	0.94542|0.94542	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1151;1129;1151	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	L|C	599|1151;1151;1219;1210;1142;1151;1129;1151;1210;1219;1210;1142;1151;1151;1219;1210;1142	.|ENSP00000423388:S1151C;ENSP00000422533:S1151C;ENSP00000423787:S1219C;ENSP00000425033:S1210C;ENSP00000424120:S1142C;ENSP00000439831:S1151C;ENSP00000421476:S1210C;ENSP00000424030:S1219C;ENSP00000421372:S1210C;ENSP00000425201:S1142C;ENSP00000423434:S1151C;ENSP00000421627:S1151C;ENSP00000420931:S1219C;ENSP00000425884:S1210C;ENSP00000424258:S1142C	.|ENSP00000280009:S1151C	F|S	+|+	3|2	2|0	LPHN3|LPHN3	62586108|62586108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.438000|7.438000	0.80431|0.80431	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	TTC|TCC		PASS	0.398	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			13	73	13	73	---	---	---	---
PPP3CA	5530	broad.mit.edu	37	4	101953522	101953522	+	Splice_Site	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr4:101953522C>A	ENST00000394854.3	-	12	1925		c.e12-1		PPP3CA_ENST00000512215.1_Splice_Site|PPP3CA_ENST00000323055.6_Splice_Site|PPP3CA_ENST00000394853.4_Splice_Site|PPP3CA_ENST00000507176.1_Splice_Site|PPP3CA_ENST00000523694.2_Splice_Site	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme						calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ACTCTCTTCTCTGGAAGGCAC	0.453																																						uc011cen.1																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e12-1		protein phosphatase 3, catalytic subunit, alpha							86.0	69.0	75.0					4																	101953522		2203	4300	6503	SO:0001630	splice_region_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101953522C>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1242-1G>T	4.37:g.101953522C>A						PPP3CA_uc003hvu.2_Splice_Site_p.R414_splice|PPP3CA_uc010ilj.2_Splice_Site_p.R372_splice|PPP3CA_uc003hvt.2_Splice_Site_p.R401_splice|PPP3CA_uc003hvs.2_Splice_Site_p.R347_splice|PPP3CA_uc010ilk.2_Splice_Site_p.R182_splice	p.R414_splice	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	12	1917	-								A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Splice_Site	SNP	ENST00000394854.3	37	c.1242_splice	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837556	0.91117	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9768	0.92740	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP3CA	102172545	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.825000	0.69286	2.489000	0.83994	0.591000	0.81541	.		PASS	0.453	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944	Intron	3	17	3	17	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144390314	144390314	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr4:144390314C>T	ENST00000262994.4	+	10	2359	c.2057C>T	c.(2056-2058)tCa>tTa	p.S686L	GAB1_ENST00000505913.1_Missense_Mutation_p.S583L|GAB1_ENST00000262995.4_Missense_Mutation_p.S716L	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	686					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.S716L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TCCACAGAATCAGAAACGCCA	0.418																																						uc003ije.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(2056-2058)TCA>TTA		GRB2-associated binding protein 1 isoform b							116.0	117.0	116.0					4																	144390314		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144390314C>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.2057C>T	4.37:g.144390314C>T	ENSP00000262994:p.Ser686Leu					GAB1_uc003ijd.2_Missense_Mutation_p.S716L|GAB1_uc011chq.1_Missense_Mutation_p.S583L	p.S686L	NM_002039	NP_002030	Q13480	GAB1_HUMAN			10	2416	+	all_hematologic(180;0.158)		686					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.2057C>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994248	0.54041	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.15487	2.42;2.42;2.42	6.07	6.07	0.98685	.	0.060242	0.64402	D	0.000001	T	0.21590	0.0520	L	0.44542	1.39	0.51233	D	0.999912	B;B	0.32753	0.104;0.383	B;B	0.33521	0.024;0.165	T	0.01249	-1.1406	10	0.72032	D	0.01	-21.3671	20.6593	0.99626	0.0:1.0:0.0:0.0	.	686;716	Q13480;Q13480-2	GAB1_HUMAN;.	L	716;686;583	ENSP00000262995:S716L;ENSP00000262994:S686L;ENSP00000424554:S583L	ENSP00000262994:S686L	S	+	2	0	GAB1	144609764	0.997000	0.39634	0.561000	0.28357	0.633000	0.38033	5.370000	0.66144	2.885000	0.99019	0.655000	0.94253	TCA		PASS	0.418	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		5	56	5	56	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183245215	183245215	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr4:183245215G>C	ENST00000511685.1	+	2	165	c.42G>C	c.(40-42)aaG>aaC	p.K14N	TENM3_ENST00000406950.2_Missense_Mutation_p.K14N			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	14	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K14N(1)									CCCTGACCAAGAGCAGACGAG	0.522																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)AAG>AAC		odz, odd Oz/ten-m homolog 3							87.0	89.0	88.0					4																	183245215		2006	4178	6184	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183245215G>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.42G>C	4.37:g.183245215G>C	ENSP00000424226:p.Lys14Asn					ODZ3_uc010irv.1_Missense_Mutation_p.K14N	p.K14N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	1	79	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	14			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.42G>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814572	0.70912	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.30714	1.52;1.52;1.52	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.48150	0.1484	L	0.34521	1.04	0.48696	D	0.999699	D;D	0.62365	0.957;0.991	P;D	0.76071	0.672;0.987	T	0.40997	-0.9533	9	0.72032	D	0.01	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	14;14	D6RGC5;Q9P273	.;TEN3_HUMAN	N	14	ENSP00000421320:K14N;ENSP00000424226:K14N;ENSP00000385276:K14N	ENSP00000385276:K14N	K	+	3	2	ODZ3	183482209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.982000	0.70532	2.941000	0.99782	0.655000	0.94253	AAG		PASS	0.522	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			3	15	3	15	---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7869254	7869254	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:7869254C>G	ENST00000264668.2	+	1	38	c.8C>G	c.(7-9)gCt>gGt	p.A3G	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000264669.5_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'Flank	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	3					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.A3G(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGCATGGGCGCTGCGTCAGTG	0.662																																						uc003jed.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)GCT>GGT		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						97.0	97.0	97.0					5																	7869254		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7869254C>G	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.8C>G	5.37:g.7869254C>G	ENSP00000264668:p.Ala3Gly					FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_5'UTR|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.A3G	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			1	38	+			3					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.8C>G	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	5.966	0.362185	0.11296	.	.	ENSG00000124275	ENST00000264668	T	0.02236	4.38	1.83	-0.223	0.13118	.	12.317600	0.01446	U	0.015280	T	0.01592	0.0051	N	0.08118	0	0.09310	N	0.999996	B	0.12013	0.005	B	0.04013	0.001	T	0.45716	-0.9242	10	0.62326	D	0.03	-0.0439	2.115	0.03712	0.3105:0.4871:0.0:0.2024	.	3	Q9UBK8	MTRR_HUMAN	G	3	ENSP00000264668:A3G	ENSP00000264668:A3G	A	+	2	0	MTRR	7922254	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.079000	0.14782	-0.098000	0.12285	0.484000	0.47621	GCT		PASS	0.662	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			40	100	40	100	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10391811	10391811	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:10391811A>G	ENST00000274140.5	+	7	866	c.734A>G	c.(733-735)gAg>gGg	p.E245G	MARCH6_ENST00000449913.2_Missense_Mutation_p.E197G|MARCH6_ENST00000503788.1_Missense_Mutation_p.E140G	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	245					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E245G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GCTGGTGTGGAGGATGCGGCA	0.537																																						uc003jet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(733-735)GAG>GGG		membrane-associated ring finger (C3HC4) 6							134.0	99.0	111.0					5																	10391811		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10391811A>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.734A>G	5.37:g.10391811A>G	ENSP00000274140:p.Glu245Gly					MARCH6_uc011cmu.1_Missense_Mutation_p.E197G|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.E140G	p.E245G	NM_005885	NP_005876	O60337	MARH6_HUMAN			7	917	+			245			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.734A>G	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940228	0.34283	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.47869	1.86;0.83;1.81	5.92	4.75	0.60458	.	0.094476	0.64402	D	0.000001	T	0.28830	0.0715	N	0.15975	0.35	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.06180	-1.0841	10	0.14252	T	0.57	-7.0079	12.1395	0.53991	0.8714:0.0:0.0:0.1286	.	140;197;245	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	G	197;140;245	ENSP00000414643:E197G;ENSP00000425930:E140G;ENSP00000274140:E245G	ENSP00000274140:E245G	E	+	2	0	MARCH6	10444811	1.000000	0.71417	0.176000	0.23000	0.741000	0.42261	7.650000	0.83521	1.044000	0.40200	0.533000	0.62120	GAG		PASS	0.537	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		3	78	3	78	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75964666	75964666	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:75964666T>C	ENST00000274364.6	+	23	3137	c.2840T>C	c.(2839-2841)aTa>aCa	p.I947T	IQGAP2_ENST00000379730.3_Missense_Mutation_p.I449T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.I443T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.I443T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	947	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.I947T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGGAAGAAATAAAGTATGTA	0.279																																						uc003kek.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2839-2841)ATA>ACA		IQ motif containing GTPase activating protein 2							38.0	40.0	40.0					5																	75964666		2200	4295	6495	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75964666T>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2840T>C	5.37:g.75964666T>C	ENSP00000274364:p.Ile947Thr					IQGAP2_uc010izv.2_Missense_Mutation_p.I500T|IQGAP2_uc011csv.1_Missense_Mutation_p.I443T|IQGAP2_uc003kel.2_Missense_Mutation_p.I443T	p.I947T	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	23	3062	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	947			Ras-GAP.		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2840T>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275507	0.80580	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000502745	D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.28	5.28	0.74379	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.091715	0.64402	D	0.000001	D	0.94791	0.8318	M	0.91872	3.25	0.80722	D	1	P;P;P;P	0.52692	0.861;0.955;0.861;0.955	D;D;D;D	0.87578	0.992;0.998;0.992;0.998	D	0.95668	0.8721	10	0.66056	D	0.02	-19.527	15.2129	0.73241	0.0:0.0:0.0:1.0	.	449;897;443;947	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	T	947;449;897;500;443;443	ENSP00000274364:I947T;ENSP00000442313:I449T;ENSP00000421097:I897T;ENSP00000422661:I500T;ENSP00000379535:I443T;ENSP00000426027:I443T	ENSP00000274364:I947T	I	+	2	0	IQGAP2	76000422	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.993000	0.88291	1.994000	0.58287	0.482000	0.46254	ATA		PASS	0.279	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		24	34	24	34	---	---	---	---
F2R	2149	broad.mit.edu	37	5	76028982	76028982	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:76028982C>A	ENST00000319211.4	+	2	1197	c.932C>A	c.(931-933)gCt>gAt	p.A311D		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	311					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.A311D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAGTCCCGGGCTTTGTTCCTG	0.478																																						uc003ken.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(931-933)GCT>GAT		coagulation factor II receptor precursor	Streptokinase(DB00086)						138.0	125.0	129.0					5																	76028982		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028982C>A	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.932C>A	5.37:g.76028982C>A	ENSP00000321326:p.Ala311Asp						p.A311D	NM_001992	NP_001983	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	1197	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	311			Cytoplasmic (Potential).		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.932C>A	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140497	0.94560	.	.	ENSG00000181104	ENST00000319211	T	0.41400	1.0	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74791	-0.3545	10	0.72032	D	0.01	-19.7721	18.6626	0.91477	0.0:1.0:0.0:0.0	.	311	P25116	PAR1_HUMAN	D	311	ENSP00000321326:A311D	ENSP00000321326:A311D	A	+	2	0	F2R	76064738	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.502000	0.81614	2.710000	0.92621	0.561000	0.74099	GCT		PASS	0.478	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			11	117	11	117	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79363825	79363825	+	Silent	SNP	G	G	A	rs548126974		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:79363825G>A	ENST00000350881.2	+	10	1414	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.P317P|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	408	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P408P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CTTGTAAGCCGGGGTATACTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19978	0.0		0.0	False		,,,				2504	0.001					uc003kgh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1222-1224)CCG>CCA		thrombospondin 4 precursor							137.0	121.0	126.0					5																	79363825		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79363825G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1224G>A	5.37:g.79363825G>A						uc003kgi.3_Intron	p.P408P	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	11	1547	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	408			EGF-like 3; calcium-binding (Potential).		B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.1224G>A	CCDS4049.1																																																																																				PASS	0.498	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			21	125	21	125	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82948291	82948291	+	Silent	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:82948291C>A	ENST00000274341.4	-	3	1303	c.453G>T	c.(451-453)gtG>gtT	p.V151V	HAPLN1_ENST00000514416.1_Silent_p.V151V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	151	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.V151V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CCAGTGCTACCACAACAGTAT	0.373																																						uc003kim.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(451-453)GTG>GTT		hyaluronan and proteoglycan link protein 1							166.0	167.0	166.0					5																	82948291		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948291C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.453G>T	5.37:g.82948291C>A						HAPLN1_uc003kin.2_Silent_p.V151V	p.V151V	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	524	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	151			Ig-like V-type.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.453G>T	CCDS4061.1																																																																																				PASS	0.373	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		48	100	48	100	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90052310	90052310	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:90052310A>G	ENST00000405460.2	+	56	11716	c.11620A>G	c.(11620-11622)Atc>Gtc	p.I3874V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3874	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I3874V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTGTCACTATCACTGAGGT	0.423																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11620-11622)ATC>GTC		G protein-coupled receptor 98 precursor							149.0	138.0	142.0					5																	90052310		1920	4141	6061	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90052310A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11620A>G	5.37:g.90052310A>G	ENSP00000384582:p.Ile3874Val					GPR98_uc003kjt.2_Missense_Mutation_p.I1580V|GPR98_uc003kjv.2_Missense_Mutation_p.I1474V	p.I3874V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	56	11716	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3874			Extracellular (Potential).|Calx-beta 25.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11620A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256438	0.22965	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.37058	1.22	5.82	2.15	0.27550	.	0.095089	0.64402	N	0.000001	T	0.37865	0.1019	M	0.68952	2.095	0.80722	D	1	P;B	0.34662	0.462;0.236	B;B	0.39027	0.288;0.056	T	0.13764	-1.0497	10	0.49607	T	0.09	.	9.5956	0.39571	0.7994:0.0:0.2006:0.0	.	3874;3874	E7ETI5;Q8WXG9	.;GPR98_HUMAN	V	3874	ENSP00000384582:I3874V	ENSP00000296619:I3874V	I	+	1	0	GPR98	90088066	1.000000	0.71417	0.012000	0.15200	0.153000	0.21895	5.604000	0.67626	0.137000	0.18759	-1.411000	0.01122	ATC		PASS	0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		22	234	22	234	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127700404	127700404	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:127700404C>G	ENST00000508053.1	-	24	3291	c.2317G>C	c.(2317-2319)Gct>Cct	p.A773P	FBN2_ENST00000508989.1_Missense_Mutation_p.A740P|FBN2_ENST00000262464.4_Missense_Mutation_p.A773P|FBN2_ENST00000511489.1_5'Flank			P35556	FBN2_HUMAN	fibrillin 2	773	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A773P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGATCCAAAGCACATTCATTG	0.363																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2317-2319)GCT>CCT		fibrillin 2 precursor							85.0	80.0	81.0					5																	127700404		2203	4299	6502	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127700404C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2317G>C	5.37:g.127700404C>G	ENSP00000424571:p.Ala773Pro					FBN2_uc003kuv.2_Missense_Mutation_p.A740P	p.A773P	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	18	2756	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	773			EGF-like 11; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2317G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446888	0.63178	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93133	-3.17;-3.17;-3.17	4.43	4.43	0.53597	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.96706	0.8925	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.996;0.998	D	0.96866	0.9636	10	0.66056	D	0.02	.	18.3499	0.90335	0.0:1.0:0.0:0.0	.	740;773	D6RJI3;P35556	.;FBN2_HUMAN	P	773;773;740	ENSP00000262464:A773P;ENSP00000424571:A773P;ENSP00000425596:A740P	ENSP00000262464:A773P	A	-	1	0	FBN2	127728303	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	4.759000	0.62227	2.756000	0.94617	0.655000	0.94253	GCT		PASS	0.363	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		17	21	17	21	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481851	140481851	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:140481851G>T	ENST00000231130.2	+	1	1618	c.1618G>T	c.(1618-1620)Gct>Tct	p.A540S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A540S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCTCCCCGGCTTTGAGCAG	0.687																																						uc003lio.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1618-1620)GCT>TCT		protocadherin beta 3 precursor							48.0	52.0	51.0					5																	140481851		2203	4297	6500	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481851G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1618G>T	5.37:g.140481851G>T	ENSP00000231130:p.Ala540Ser					uc003lin.2_5'Flank	p.A540S	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1618	+			540			Extracellular (Potential).|Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1618G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	9.266	1.044551	0.19748	.	.	ENSG00000113205	ENST00000231130	T	0.03094	4.05	4.14	-0.355	0.12587	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03434	0.0099	N	0.05414	-0.055	0.09310	N	0.999999	D	0.53619	0.961	P	0.56648	0.803	T	0.41698	-0.9494	9	0.48119	T	0.1	.	1.7649	0.03000	0.152:0.3866:0.204:0.2574	.	540	Q9Y5E6	PCDB3_HUMAN	S	540	ENSP00000231130:A540S	ENSP00000231130:A540S	A	+	1	0	PCDHB3	140462035	0.000000	0.05858	0.725000	0.30721	0.008000	0.06430	-0.193000	0.09573	0.278000	0.22164	0.650000	0.86243	GCT		PASS	0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		10	94	10	94	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554673	140554673	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:140554673C>T	ENST00000231137.3	+	1	2431	c.2257C>T	c.(2257-2259)Ctg>Ttg	p.L753L	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	753					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L753L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGGTGTGCCTGACTGGAGG	0.582																																						uc003lit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2257-2259)CTG>TTG		protocadherin beta 7 precursor							89.0	135.0	119.0					5																	140554673		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554673C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2257C>T	5.37:g.140554673C>T						PCDHB8_uc011dai.1_5'Flank	p.L753L	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2431	+			753			Cytoplasmic (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.2257C>T	CCDS4249.1																																																																																				PASS	0.582	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		6	210	6	210	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725281	140725281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:140725281G>T	ENST00000253812.6	+	1	1681	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E561*(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCCGAGATCCTGTA	0.647																																						uc003ljm.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(1681-1683)GAG>TAG		protocadherin gamma subfamily A, 3 isoform 1							119.0	131.0	127.0					5																	140725281		2203	4300	6503	SO:0001587	stop_gained	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725281G>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1681G>T	5.37:g.140725281G>T	ENSP00000253812:p.Glu561*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Nonsense_Mutation_p.E321*|PCDHGA3_uc011dap.1_Nonsense_Mutation_p.E561*	p.E561*	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1681	+			561			Extracellular (Potential).|Cadherin 5.		Q9Y5D4	Nonsense_Mutation	SNP	ENST00000253812.6	37	c.1681G>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	19.94	3.920217	0.73098	.	.	ENSG00000254245	ENST00000253812	.	.	.	5.42	5.42	0.78866	.	0.000000	0.33496	U	0.004843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	9.3947	0.38394	0.0773:0.1458:0.7769:0.0	.	.	.	.	X	561	.	ENSP00000253812:E561X	E	+	1	0	PCDHGA3	140705465	0.000000	0.05858	0.617000	0.29091	0.107000	0.19398	0.322000	0.19576	2.700000	0.92200	0.563000	0.77884	GAG		PASS	0.647	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		79	159	79	159	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140744557	140744557	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:140744557G>A	ENST00000518069.1	+	1	660	c.660G>A	c.(658-660)ccG>ccA	p.P220P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P220P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGACCCGGTACTCTCCG	0.572																																						uc003lju.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(658-660)CCG>CCA		protocadherin gamma subfamily A, 5 isoform 1							70.0	71.0	71.0					5																	140744557		2062	4197	6259	SO:0001819	synonymous_variant	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744557G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.660G>A	5.37:g.140744557G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.P220P	p.P220P	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	660	+			220			Extracellular (Potential).|Cadherin 2.		Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.660G>A	CCDS54925.1																																																																																				PASS	0.572	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		9	98	9	98	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148695778	148695778	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:148695778G>C	ENST00000296721.4	+	11	1277	c.1179G>C	c.(1177-1179)aaG>aaC	p.K393N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.K393N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	393						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K393N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCGCAAGATCACCCGTA	0.607																																						uc003lqh.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1177-1179)AAG>AAC		actin filament associated protein 1-like 1							65.0	67.0	67.0					5																	148695778		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148695778G>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1179G>C	5.37:g.148695778G>C	ENSP00000296721:p.Lys393Asn					AFAP1L1_uc010jgy.2_Missense_Mutation_p.K393N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.K8N	p.K393N	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1310	+			393					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1179G>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500970	0.44455	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	D;D	0.92149	-2.98;-2.98	5.58	4.7	0.59300	.	0.146577	0.64402	D	0.000008	D	0.95089	0.8409	M	0.73962	2.25	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.922	D	0.94967	0.8113	10	0.72032	D	0.01	-30.498	10.6969	0.45905	0.2005:0.0:0.7995:0.0	.	393;393	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	N	393	ENSP00000296721:K393N;ENSP00000424427:K393N	ENSP00000296721:K393N	K	+	3	2	AFAP1L1	148675971	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	1.398000	0.34554	1.350000	0.45770	0.561000	0.74099	AAG		PASS	0.607	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		10	111	10	111	---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150701635	150701635	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:150701635G>A	ENST00000335244.4	-	9	1281	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	SLC36A2_ENST00000450886.1_Silent_p.S108S|SLC36A2_ENST00000521967.1_Silent_p.S384S	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	384					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.S384S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CGAGGCGAATGGACAGATCCA	0.537																																						uc003lty.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1150-1152)TCC>TCT		solute carrier family 36, member 2							136.0	125.0	129.0					5																	150701635		2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150701635G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1152C>T	5.37:g.150701635G>A						GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Silent_p.S186S|SLC36A2_uc010jhv.2_Silent_p.S384S	p.S384S	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1282	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	384			Helical; (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.1152C>T	CCDS4315.1																																																																																				PASS	0.537	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			9	94	9	94	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161495095	161495095	+	Silent	SNP	G	G	T	rs115976622		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:161495095G>T	ENST00000361925.4	+	1	310	c.90G>T	c.(88-90)ctG>ctT	p.L30L	GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000356592.3_Silent_p.L30L|GABRG2_ENST00000414552.2_Silent_p.L30L			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	30					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L30L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCTGCTCCTGCTGTCGCTCT	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14863	0.0		0.0	False		,,,				2504	0.0					uc003lyz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(88-90)CTG>CTT		gamma-aminobutyric acid A receptor, gamma 2							90.0	81.0	84.0					5																	161495095		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161495095G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.90G>T	5.37:g.161495095G>T						GABRG2_uc010jjc.2_Silent_p.L30L|GABRG2_uc003lyy.3_Silent_p.L30L|GABRG2_uc011dej.1_5'UTR	p.L30L	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	1	448	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	30					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.90G>T	CCDS4358.1																																																																																				PASS	0.507	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			10	59	10	59	---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177421251	177421251	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P66P(2)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGGGAGTGCGGGCGGCCCC	0.662																																						uc003mif.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(196-198)CCG>CCA		PROP paired-like homeobox 1							34.0	37.0	36.0					5																	177421251		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177421251C>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.198G>A	5.37:g.177421251C>T							p.P66P	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	507	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	66						Silent	SNP	ENST00000308304.2	37	c.198G>A	CCDS4430.1																																																																																				PASS	0.662	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		36	44	36	44	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180043933	180043933	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:180043933C>T	ENST00000261937.6	-	22	3141	c.3063G>A	c.(3061-3063)gtG>gtA	p.V1021V	FLT4_ENST00000393347.3_Silent_p.V1021V|FLT4_ENST00000502649.1_Silent_p.V1021V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1021	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V1021V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCTCTGGCCACCTGGAAGC	0.612																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			2	Substitution - coding silent(2)		lung(2)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(3061-3063)GTG>GTA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						100.0	94.0	96.0					5																	180043933		2203	4300	6503	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180043933C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3063G>A	5.37:g.180043933C>T						FLT4_uc003mlz.3_Silent_p.V1021V	p.V1021V	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	22	3142	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1021			Cytoplasmic (Potential).|Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3063G>A	CCDS4457.1																																																																																				PASS	0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			14	139	14	139	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180057798	180057798	+	Splice_Site	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr5:180057798C>T	ENST00000261937.6	-	3	235	c.157G>A	c.(157-159)Gga>Aga	p.G53R	FLT4_ENST00000393347.3_Splice_Site_p.G53R|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Splice_Site_p.G53R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	53	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G53R(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGTGCTGTCCCCTGGCAGAG	0.677																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			2	Substitution - Missense(2)		lung(2)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(157-159)GGA>AGA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						32.0	31.0	31.0					5																	180057798		2194	4292	6486	SO:0001630	splice_region_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057798C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.156-1G>A	5.37:g.180057798C>T						FLT4_uc003mlz.3_Missense_Mutation_p.G53R|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.G53R|FLT4_uc011dgz.1_Missense_Mutation_p.G53R|FLT4_uc011dha.1_Missense_Mutation_p.G53R	p.G53R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	236	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	53			Ig-like C2-type 1.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.157G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392674	0.62066	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.54675	0.56;0.56;0.56	4.97	4.97	0.65823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76622	0.4013	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998	D;D;D;D;D	0.85130	0.996;0.997;0.988;0.995;0.995	T	0.81109	-0.1082	9	0.87932	D	0	.	18.6181	0.91310	0.0:1.0:0.0:0.0	.	53;53;53;53;53	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	R	53	ENSP00000261937:G53R;ENSP00000377016:G53R;ENSP00000426057:G53R	ENSP00000261937:G53R	G	-	1	0	FLT4	179990404	1.000000	0.71417	0.962000	0.40283	0.206000	0.24218	6.900000	0.75687	2.502000	0.84385	0.462000	0.41574	GGA		PASS	0.677	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Missense_Mutation	4	30	4	30	---	---	---	---
HIST1H2BL	8340	broad.mit.edu	37	6	27775434	27775434	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:27775434T>C	ENST00000377401.2	-	1	275	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	84					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y84C(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GCGCTTGTTGTAGTGCGCCAG	0.632																																						uc003njl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)TAC>TGC		histone cluster 1, H2bl							119.0	115.0	116.0					6																	27775434		2203	4300	6503	SO:0001583	missense	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775434T>C	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.251A>G	6.37:g.27775434T>C	ENSP00000366618:p.Tyr84Cys					HIST1H3H_uc003njm.2_5'Flank	p.Y84C	NM_003519	NP_003510	Q99880	H2B1L_HUMAN			1	276	-			84					B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	c.251A>G	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.663393	0.67700	.	.	ENSG00000185130	ENST00000377401	T	0.68903	-0.36	4.29	4.29	0.51040	Histone-fold (2);Histone core (1);	0.000000	0.38778	U	0.001578	D	0.85898	0.5804	H	0.98133	4.155	0.45567	D	0.998518	D	0.89917	1.0	D	0.97110	1.0	D	0.90721	0.4635	10	0.87932	D	0	.	13.319	0.60423	0.0:0.0:0.0:1.0	.	84	Q99880	H2B1L_HUMAN	C	84	ENSP00000366618:Y84C	ENSP00000366618:Y84C	Y	-	2	0	HIST1H2BL	27883413	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.410000	0.80065	1.866000	0.54105	0.533000	0.62120	TAC		PASS	0.632	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		42	149	42	149	---	---	---	---
ZNF311	282890	broad.mit.edu	37	6	28964036	28964036	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:28964036T>G	ENST00000377179.3	-	7	1255	c.743A>C	c.(742-744)gAa>gCa	p.E248A	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	248					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.E248A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCTGGCACATTCATGGAGTTT	0.383																																						uc003nlu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)GAA>GCA		zinc finger protein 311							76.0	91.0	86.0					6																	28964036		1510	2707	4217	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28964036T>G	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.743A>C	6.37:g.28964036T>G	ENSP00000366384:p.Glu248Ala					ZNF311_uc011dlk.1_Missense_Mutation_p.E156A|ZNF311_uc003nlv.2_Missense_Mutation_p.E156A	p.E248A	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			7	1256	-			248			C2H2-type 1.		A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.743A>C	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	T	9.908	1.208617	0.22205	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.28454	1.61	3.03	0.54	0.17163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.16368	0.405	0.09310	N	1	B	0.16396	0.017	B	0.22880	0.042	T	0.38045	-0.9679	9	0.59425	D	0.04	-2.4441	3.2699	0.06878	0.0:0.1345:0.2437:0.6218	.	248	Q5JNZ3	ZN311_HUMAN	A	248;156	ENSP00000366384:E248A	ENSP00000366384:E248A	E	-	2	0	ZNF311	29072015	0.000000	0.05858	0.002000	0.10522	0.273000	0.26683	-1.056000	0.03489	0.106000	0.17784	0.477000	0.44152	GAA		PASS	0.383	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		51	98	51	98	---	---	---	---
GGNBP1	449520	broad.mit.edu	37	6	33555414	33555414	+	Intron	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:33555414C>A	ENST00000374458.1	+	5	846				LINC00336_ENST00000477984.1_RNA			Q5YKI7	GGNB1_HUMAN	gametogenetin binding protein 1 (pseudogene)						cell differentiation (GO:0030154)|mitochondrial fission (GO:0000266)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A192S(1)									gggactgttgCAAGGACCTCC	0.532																																						uc003oew.1																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GCA>TCA		RecName: Full=Putative uncharacterized protein C6orf227;							66.0	67.0	67.0					6																	33555414		2203	4300	6503	SO:0001627	intron_variant	401253							g.chr6:33555414C>A			6p21	2012-04-19	2012-04-19		ENSG00000204188	ENSG00000204188			19427	pseudogene	pseudogene		609495	"""gametogenetin binding protein 1"""			15642376	Standard	NR_028361		Approved		uc021ywq.1	Q5YKI7		ENST00000374458.1:c.216+849C>A	6.37:g.33555414C>A						GGNBP1_uc003oev.2_Intron	p.A192S	NR_027908						2	576	-								Q5YKI8	Missense_Mutation	SNP	ENST00000374458.1	37	c.574G>T																																																																																					PASS	0.532	GGNBP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				28	49	28	49	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41162281	41162281	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:41162281C>T	ENST00000483722.1	-	3	852	c.667G>A	c.(667-669)Gct>Act	p.A223T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	223					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A282T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTGGGCCAGCAGAGGAGTCC	0.612																																						uc010jxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(667-669)GCT>ACT		triggering receptor expressed on myeloid							99.0	94.0	96.0					6																	41162281		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162281C>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.667G>A	6.37:g.41162281C>T	ENSP00000418767:p.Ala223Thr						p.A223T	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			3	846	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		223			Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.667G>A	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605909	0.46527	.	.	ENSG00000112195	ENST00000483722	T	0.07908	3.15	4.26	2.27	0.28462	.	1.070440	0.07360	N	0.883965	T	0.04679	0.0127	L	0.58101	1.795	0.09310	N	1	P	0.37781	0.608	B	0.37943	0.261	T	0.38478	-0.9659	10	0.59425	D	0.04	-1.1707	10.0033	0.41942	0.0:0.5951:0.4049:0.0	.	223	Q5T2D2	TRML2_HUMAN	T	223	ENSP00000418767:A223T	ENSP00000418767:A223T	A	-	1	0	TREML2	41270259	0.015000	0.18098	0.032000	0.17829	0.067000	0.16453	0.207000	0.17395	1.104000	0.41587	0.643000	0.83706	GCT		PASS	0.612	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		21	36	21	36	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43226934	43226934	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:43226934C>A	ENST00000259750.4	+	11	1258	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	TTBK1_ENST00000304139.5_Missense_Mutation_p.P341H	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	392					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P392H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GTCCCCCACCCCGGGGGTCCT	0.637																																						uc003ouq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1174-1176)CCC>CAC		tau tubulin kinase 1							44.0	53.0	50.0					6																	43226934		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43226934C>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1175C>A	6.37:g.43226934C>A	ENSP00000259750:p.Pro392His						p.P392H	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		11	1454	+			392					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.1175C>A	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782076	0.70222	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.53640	0.61	4.61	4.61	0.57282	.	0.217582	0.40385	N	0.001114	T	0.30103	0.0754	L	0.39898	1.24	0.31591	N	0.653833	P	0.49447	0.924	P	0.44732	0.459	T	0.25641	-1.0126	10	0.72032	D	0.01	.	12.8138	0.57654	0.0:1.0:0.0:0.0	.	392	Q5TCY1	TTBK1_HUMAN	H	341;392;341	ENSP00000259750:P392H	ENSP00000259750:P392H	P	+	2	0	TTBK1	43334912	0.000000	0.05858	0.947000	0.38551	0.977000	0.68977	1.179000	0.31993	2.396000	0.81511	0.555000	0.69702	CCC		PASS	0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			71	83	71	83	---	---	---	---
MCM3	4172	broad.mit.edu	37	6	52131488	52131488	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:52131488C>T	ENST00000229854.7	-	15	2155	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	MCM3_ENST00000596288.1_Silent_p.K738K|MCM3_ENST00000419835.2_Silent_p.K647K			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	693					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.K693K(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTGGCGAGTCTTCCTTCTAA	0.488																																						uc003pan.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(2077-2079)AAG>AAA		minichromosome maintenance complex component 3							197.0	189.0	191.0					6																	52131488		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52131488C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2079G>A	6.37:g.52131488C>T						MCM3_uc011dwu.1_Silent_p.K647K	p.K693K	NM_002388	NP_002379	P25205	MCM3_HUMAN			15	2189	-	Lung NSC(77;0.0931)		693					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.2079G>A																																																																																					PASS	0.488	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			7	348	7	348	---	---	---	---
CYB5R4	51167	broad.mit.edu	37	6	84629158	84629158	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:84629158A>G	ENST00000369681.5	+	7	689	c.549A>G	c.(547-549)atA>atG	p.I183M		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	183	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.I183M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CCATTGCCATATATACTAAAC	0.254																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(547-549)ATA>ATG		cytochrome b5 reductase 4							33.0	34.0	34.0					6																	84629158		2168	4221	6389	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84629158A>G	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.549A>G	6.37:g.84629158A>G	ENSP00000358695:p.Ile183Met						p.I183M	NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	7	681	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	183			CS.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.549A>G	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285911	0.40394	.	.	ENSG00000065615	ENST00000369681	T	0.21031	2.03	6.03	4.81	0.61882	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.251494	0.47852	D	0.000214	T	0.17152	0.0412	M	0.72894	2.215	0.80722	D	1	B	0.26809	0.16	B	0.36092	0.217	T	0.06445	-1.0826	10	0.72032	D	0.01	.	9.6697	0.40004	0.8252:0.1748:0.0:0.0	.	183	Q7L1T6	NB5R4_HUMAN	M	183	ENSP00000358695:I183M	ENSP00000358695:I183M	I	+	3	3	CYB5R4	84685877	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	3.396000	0.52565	2.313000	0.78055	0.455000	0.32223	ATA		PASS	0.254	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		10	15	10	15	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90604309	90604309	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:90604309C>T	ENST00000369352.1	+	1	122	c.122C>T	c.(121-123)gCt>gTt	p.A41V		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	41					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.A41V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CGTGTGGCTGCTGAGGATGTC	0.498																																						uc011eaa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)GCT>GTT		gap junction protein, alpha 10							133.0	111.0	118.0					6																	90604309		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604309C>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.122C>T	6.37:g.90604309C>T	ENSP00000358358:p.Ala41Val						p.A41V	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	122	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	41			Extracellular (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.122C>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586192	0.86851	.	.	ENSG00000135355	ENST00000369352	D	0.99239	-5.61	4.79	4.79	0.61399	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99560	1.0968	10	0.56958	D	0.05	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	41	Q969M2	CXA10_HUMAN	V	41	ENSP00000358358:A41V	ENSP00000358358:A41V	A	+	2	0	GJA10	90661030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.503000	0.81632	2.507000	0.84556	0.557000	0.71058	GCT		PASS	0.498	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		10	110	10	110	---	---	---	---
FHL5	9457	broad.mit.edu	37	6	97053851	97053851	+	Silent	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:97053851T>C	ENST00000326771.2	+	5	788	c.408T>C	c.(406-408)ccT>ccC	p.P136P	FHL5_ENST00000541107.1_Silent_p.P136P	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	136	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P136P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GCCGACAACCTATAGGGACAA	0.413																																						uc003pos.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(406-408)CCT>CCC		activator of cAMP-responsive element modulator							107.0	97.0	100.0					6																	97053851		2203	4300	6503	SO:0001819	synonymous_variant	9457					nucleus	zinc ion binding	g.chr6:97053851T>C	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.408T>C	6.37:g.97053851T>C						FHL5_uc003pot.1_Silent_p.P136P	p.P136P	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	5	813	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	136			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	37	c.408T>C	CCDS5035.1																																																																																				PASS	0.413	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		28	50	28	50	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131943099	131943099	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:131943099T>G	ENST00000368068.3	-	6	596	c.417A>C	c.(415-417)aaA>aaC	p.K139N	MED23_ENST00000368058.1_Missense_Mutation_p.K139N|MED23_ENST00000354577.4_Missense_Mutation_p.K139N|MED23_ENST00000368053.4_Missense_Mutation_p.K139N|MED23_ENST00000403834.3_Missense_Mutation_p.K139N|MED23_ENST00000368060.3_Missense_Mutation_p.K139N|MED23_ENST00000540546.1_Missense_Mutation_p.K139N|MED23_ENST00000539158.1_Missense_Mutation_p.K139N	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	139					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.K139N(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCAAAATCACTTTTAAGAGAT	0.383																																						uc003qcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(415-417)AAA>AAC		mediator complex subunit 23 isoform a							80.0	84.0	83.0					6																	131943099		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131943099T>G	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.417A>C	6.37:g.131943099T>G	ENSP00000357047:p.Lys139Asn					MED23_uc003qcq.2_Missense_Mutation_p.K139N|MED23_uc003qct.1_Missense_Mutation_p.K139N|MED23_uc011ecb.1_RNA	p.K139N	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	6	591	-	Breast(56;0.0753)		139					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.417A>C	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004160	0.74932	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.73	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	L	0.57536	1.79	0.58432	D	0.999998	D;D;D	0.76494	0.989;0.999;0.997	D;D;D	0.72625	0.978;0.969;0.948	T	0.82366	-0.0493	10	0.72032	D	0.01	-2.9441	10.153	0.42805	0.0:0.1368:0.0:0.8632	.	139;139;139	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	N	139	ENSP00000346588:K139N;ENSP00000357047:K139N;ENSP00000384536:K139N;ENSP00000357039:K139N;ENSP00000357037:K139N;ENSP00000357032:K139N;ENSP00000437818:K139N;ENSP00000445072:K139N	ENSP00000346588:K139N	K	-	3	2	MED23	131984792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.333000	0.33816	0.432000	0.26286	0.482000	0.46254	AAA		PASS	0.383	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			43	79	43	79	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170114900	170114900	+	Silent	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr6:170114900T>G	ENST00000339209.4	-	7	855	c.732A>C	c.(730-732)ccA>ccC	p.P244P	PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Silent_p.P242P	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	244	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)	p.P244P(1)|p.P156P(1)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTCGCTCTGTTGGCAAAACTT	0.403																																						uc011egy.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)	1						c.(730-732)CCA>CCC		PHD finger protein 10 isoform a							175.0	164.0	168.0					6																	170114900		2203	4300	6503	SO:0001819	synonymous_variant	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170114900T>G	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.732A>C	6.37:g.170114900T>G						PHF10_uc011egz.1_Silent_p.P242P|PHF10_uc011eha.1_Silent_p.P95P	p.P244P	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	7	811	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	244			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	c.732A>C	CCDS5308.2																																																																																				PASS	0.403	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		37	150	37	150	---	---	---	---
ZFAND2A	90637	broad.mit.edu	37	7	1197328	1197328	+	Silent	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:1197328T>C	ENST00000316495.3	-	3	373	c.114A>G	c.(112-114)ccA>ccG	p.P38P	ZFAND2A_ENST00000478137.1_5'Flank|AC091729.9_ENST00000413706.1_RNA|ZFAND2A_ENST00000401903.1_Silent_p.P38P|AC091729.9_ENST00000422230.1_RNA|AC091729.9_ENST00000423008.1_RNA	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	38					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)	p.P38P(1)		lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GTGCAGCGTATGGAAAATGAT	0.373																																						uc003skc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(112-114)CCA>CCG		zinc finger, AN1-type domain 2A							233.0	241.0	238.0					7																	1197328		2203	4300	6503	SO:0001819	synonymous_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1197328T>C	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.114A>G	7.37:g.1197328T>C						ZFAND2A_uc003skd.3_Silent_p.P38P|uc003skf.1_5'Flank	p.P38P	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	3	415	-		Ovarian(82;0.11)	38			AN1-type 1.		A4D220	Silent	SNP	ENST00000316495.3	37	c.114A>G	CCDS5323.1																																																																																				PASS	0.373	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		67	242	67	242	---	---	---	---
SKAP2	8935	broad.mit.edu	37	7	26779509	26779509	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:26779509T>C	ENST00000345317.2	-	5	695	c.382A>G	c.(382-384)Aaa>Gaa	p.K128E	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	128	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K128E(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						AGTTTACCTTTTCTGCGTTTT	0.378																																						uc003syc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(382-384)AAA>GAA		src kinase associated phosphoprotein 2							74.0	70.0	72.0					7																	26779509		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26779509T>C		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.382A>G	7.37:g.26779509T>C	ENSP00000005587:p.Lys128Glu					SKAP2_uc011jzi.1_5'UTR|SKAP2_uc011jzj.1_Missense_Mutation_p.K113E	p.K128E	NM_003930	NP_003921	O75563	SKAP2_HUMAN			5	675	-			128			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.382A>G	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683224	0.88542	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.13778	2.56;2.56	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	M	0.62088	1.915	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.79784	0.993;0.988	T	0.02093	-1.1215	10	0.27785	T	0.31	.	13.7005	0.62606	0.0:0.0:0.0:1.0	.	113;128	B7Z5N4;O75563	.;SKAP2_HUMAN	E	128;113;113	ENSP00000005587:K128E;ENSP00000408163:K113E	ENSP00000005587:K128E	K	-	1	0	SKAP2	26746034	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.977000	0.70492	2.217000	0.71921	0.482000	0.46254	AAA		PASS	0.378	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			8	41	8	41	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31682945	31682945	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:31682945C>A	ENST00000407970.3	+	11	1999	c.1961C>A	c.(1960-1962)aCt>aAt	p.T654N	CCDC129_ENST00000451887.2_Missense_Mutation_p.T680N|CCDC129_ENST00000409210.1_Missense_Mutation_p.T562N|CCDC129_ENST00000319386.3_Missense_Mutation_p.T506N	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	654								p.T506N(1)|p.T654N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCTTATGCAACTGACCTTGCT	0.483																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1960-1962)ACT>AAT		coiled-coil domain containing 129							133.0	115.0	121.0					7																	31682945		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682945C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1961C>A	7.37:g.31682945C>A	ENSP00000384416:p.Thr654Asn					CCDC129_uc011kad.1_Missense_Mutation_p.T664N|CCDC129_uc003tci.1_Missense_Mutation_p.T505N|CCDC129_uc011kae.1_Missense_Mutation_p.T680N|CCDC129_uc003tck.1_Missense_Mutation_p.T562N	p.T654N	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2954	+			654					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1961C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	8.490	0.861820	0.17178	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18338	2.22;2.48;2.47;2.22	5.9	-11.8	0.00035	.	2.807570	0.00969	N	0.003216	T	0.07188	0.0182	N	0.22421	0.69	0.09310	N	1	P;B;B;B	0.34977	0.478;0.095;0.095;0.095	B;B;B;B	0.29353	0.101;0.069;0.069;0.069	T	0.06899	-1.0801	10	0.17832	T	0.49	-23.3249	4.7856	0.13223	0.149:0.3703:0.382:0.0987	.	680;664;654;506	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	N	506;654;680;664;562	ENSP00000313062:T506N;ENSP00000384416:T654N;ENSP00000395835:T680N;ENSP00000387214:T562N	ENSP00000313062:T506N	T	+	2	0	CCDC129	31649470	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.263000	0.01174	-3.707000	0.00118	-1.267000	0.01435	ACT		PASS	0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		15	49	15	49	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45753389	45753389	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:45753389A>T	ENST00000297323.7	+	20	3177	c.3155A>T	c.(3154-3156)tAc>tTc	p.Y1052F		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1052					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.Y1052F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATGTTGACATACTTTCTAGAA	0.547																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(3154-3156)TAC>TTC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						133.0	120.0	125.0					7																	45753389		2203	4300	6503	SO:0001583	missense	107				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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45753389A>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3155A>T	7.37:g.45753389A>T	ENSP00000297323:p.Tyr1052Phe						p.Y1052F	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			20	3173	+			1052			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.3155A>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	A	31	5.064681	0.93898	.	.	ENSG00000164742	ENST00000297323	D	0.83837	-1.77	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	L	0.50993	1.605	0.58432	D	0.999997	P	0.49253	0.921	P	0.54140	0.743	D	0.85285	0.1064	10	0.45353	T	0.12	.	14.039	0.64663	1.0:0.0:0.0:0.0	.	1052	Q08828	ADCY1_HUMAN	F	1052	ENSP00000297323:Y1052F	ENSP00000297323:Y1052F	Y	+	2	0	ADCY1	45719914	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	8.816000	0.91979	2.200000	0.70718	0.533000	0.62120	TAC		PASS	0.547	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		23	110	23	110	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48284194	48284194	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:48284194G>T	ENST00000435803.1	+	11	1308	c.1284G>T	c.(1282-1284)ttG>ttT	p.L428F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	428					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L428F(1)|p.L373F(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTGGAAATTGCAAAGCTTGC	0.388																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1282-1284)TTG>TTT		ATP binding cassette, sub-family A (ABC1),							52.0	51.0	51.0					7																	48284194		1816	4078	5894	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48284194G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1284G>T	7.37:g.48284194G>T	ENSP00000411096:p.Leu428Phe					ABCA13_uc010kyr.2_5'UTR	p.L428F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			11	1309	+			428					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1284G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791329	0.16258	.	.	ENSG00000179869	ENST00000435803	D	0.91894	-2.93	5.05	2.96	0.34315	.	0.178098	0.26808	N	0.022399	D	0.85093	0.5618	N	0.20986	0.625	0.24917	N	0.992001	B	0.29378	0.243	B	0.28232	0.087	T	0.79052	-0.1961	10	0.87932	D	0	.	10.9098	0.47101	0.0:0.0:0.6482:0.3518	.	428	Q86UQ4	ABCAD_HUMAN	F	428	ENSP00000411096:L428F	ENSP00000411096:L428F	L	+	3	2	ABCA13	48254740	0.143000	0.22626	0.148000	0.22405	0.506000	0.33950	0.308000	0.19314	1.070000	0.40811	0.650000	0.86243	TTG		PASS	0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		9	49	9	49	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82457190	82457190	+	Splice_Site	SNP	T	T	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:82457190T>A	ENST00000333891.9	-	17	14679	c.14342A>T	c.(14341-14343)cAg>cTg	p.Q4781L	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Splice_Site_p.Q4781L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q4781L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGACATACCTGTTCCATGGA	0.328																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(14341-14343)CAG>CTG		piccolo isoform 1							82.0	77.0	79.0					7																	82457190		1812	4072	5884	SO:0001630	splice_region_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82457190T>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.14343+1A>T	7.37:g.82457190T>A						PCLO_uc003uhv.2_Missense_Mutation_p.Q4781L|PCLO_uc003uht.1_Missense_Mutation_p.Q223L|PCLO_uc003uhu.1_Missense_Mutation_p.Q202L	p.Q4781L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			17	14631	-			4643			C2 1.			Missense_Mutation	SNP	ENST00000333891.9	37	c.14342A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757375	0.49468	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.69306	-0.39;-0.39	5.09	5.09	0.68999	.	.	.	.	.	T	0.72953	0.3525	L	0.33710	1.025	0.80722	D	1	D;D;P;P	0.65815	0.995;0.995;0.945;0.955	D;D;P;D	0.68765	0.954;0.954;0.808;0.96	T	0.76550	-0.2918	9	0.87932	D	0	.	14.5312	0.67926	0.0:0.0:0.0:1.0	.	4781;4781;202;269	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	L	4781;4781;268	ENSP00000334319:Q4781L;ENSP00000388393:Q4781L	ENSP00000334319:Q4781L	Q	-	2	0	PCLO	82295126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.015000	0.88690	1.901000	0.55032	0.383000	0.25322	CAG		PASS	0.328	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	Missense_Mutation	4	21	4	21	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583709	82583709	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:82583709G>A	ENST00000333891.9	-	5	6897	c.6560C>T	c.(6559-6561)tCt>tTt	p.S2187F	PCLO_ENST00000423517.2_Missense_Mutation_p.S2187F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S2187F(2)|p.S2118F(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						CGAAGAAACAGATGATGTGAG	0.443																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(6559-6561)TCT>TTT		piccolo isoform 1							119.0	117.0	118.0					7																	82583709		1984	4166	6150	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.chr7:82583709G>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.6560C>T	7.37:g.82583709G>A	ENSP00000334319:p.Ser2187Phe					PCLO_uc003uhv.2_Missense_Mutation_p.S2187F|PCLO_uc010lec.2_5'Flank	p.S2187F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	6849	-			2118						Missense_Mutation	SNP	ENST00000333891.9	37	c.6560C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.817	0.936710	0.18206	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21191	2.02;2.03	5.77	5.77	0.91146	.	.	.	.	.	T	0.39627	0.1085	L	0.51422	1.61	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.65443	0.935;0.935	T	0.07635	-1.0762	9	0.87932	D	0	.	14.7783	0.69746	0.0:0.0:0.8557:0.1443	.	2187;2187	Q9Y6V0-5;Q9Y6V0-6	.;.	F	2118;2187;2187	ENSP00000334319:S2187F;ENSP00000388393:S2187F	ENSP00000334319:S2187F	S	-	2	0	PCLO	82421645	1.000000	0.71417	0.955000	0.39395	0.792000	0.44763	3.691000	0.54720	2.724000	0.93272	0.650000	0.86243	TCT		PASS	0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	67	4	67	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88847551	88847551	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:88847551A>G	ENST00000333190.4	+	2	800	c.191A>G	c.(190-192)tAt>tGt	p.Y64C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	64							metal ion binding (GO:0046872)	p.Y64C(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GACAAGCAGTATCACAAACAC	0.358										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(190-192)TAT>TGT		zinc finger protein 804B							99.0	95.0	96.0					7																	88847551		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88847551A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.191A>G	7.37:g.88847551A>G	ENSP00000329638:p.Tyr64Cys	HNSCC(36;0.09)					p.Y64C	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	729	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		64			C2H2-type.		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.191A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319938	0.81469	.	.	ENSG00000182348	ENST00000333190	T	0.27104	1.69	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000013	T	0.56108	0.1963	M	0.84948	2.725	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-15.5842	15.4283	0.75072	1.0:0.0:0.0:0.0	.	64	A4D1E1	Z804B_HUMAN	C	64	ENSP00000329638:Y64C	ENSP00000329638:Y64C	Y	+	2	0	ZNF804B	88685487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.238000	0.73509	0.397000	0.26171	TAT		PASS	0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		3	64	3	64	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027064	92027064	+	Missense_Mutation	SNP	G	G	T	rs200132000		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:92027064G>T	ENST00000265742.3	+	19	2799	c.2423G>T	c.(2422-2424)cGc>cTc	p.R808L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	808							zinc ion binding (GO:0008270)	p.R808L(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCAGCAGCCGCAGGCCTGGC	0.473																																						uc003ulw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2422-2424)CGC>CTC		ankyrin repeat and IBR domain containing 1							153.0	164.0	161.0					7																	92027064		1949	4164	6113	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027064G>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2423G>T	7.37:g.92027064G>T	ENSP00000265742:p.Arg808Leu					ANKIB1_uc010lew.1_Missense_Mutation_p.R77L	p.R808L	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2799	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		808					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2423G>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271294	0.59649	.	.	ENSG00000001629	ENST00000265742	T	0.10763	2.84	5.87	3.91	0.45181	.	0.335987	0.35615	N	0.003097	T	0.11367	0.0277	L	0.29908	0.895	0.46823	D	0.999216	P;P	0.35551	0.509;0.465	B;B	0.40165	0.321;0.069	T	0.07028	-1.0794	10	0.87932	D	0	.	12.8561	0.57886	0.1408:0.0:0.8592:0.0	.	160;808	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	L	808	ENSP00000265742:R808L	ENSP00000265742:R808L	R	+	2	0	ANKIB1	91865000	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	1.255000	0.32909	0.816000	0.34421	0.655000	0.94253	CGC		PASS	0.473	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			40	156	40	156	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94173810	94173810	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:94173810A>G	ENST00000297273.4	+	11	1731	c.1444A>G	c.(1444-1446)Aaa>Gaa	p.K482E		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	482						integral component of membrane (GO:0016021)		p.K482E(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTTTGGATAAAAGGAGATTT	0.363																																						uc003uni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1444-1446)AAA>GAA		CAS1 domain containing 1 precursor							118.0	113.0	115.0					7																	94173810		2203	4299	6502	SO:0001583	missense	64921					integral to membrane		g.chr7:94173810A>G	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1444A>G	7.37:g.94173810A>G	ENSP00000297273:p.Lys482Glu					CASD1_uc003unj.3_Missense_Mutation_p.K482E	p.K482E	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	1671	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		482			Helical; (Potential).		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1444A>G	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174167	0.78452	.	.	ENSG00000127995	ENST00000297273	T	0.49139	0.79	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.83118	2.625	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.71424	-0.4597	10	0.36615	T	0.2	.	14.6006	0.68438	1.0:0.0:0.0:0.0	.	482;482	Q8WZ77;Q96PB1	.;CASD1_HUMAN	E	482	ENSP00000297273:K482E	ENSP00000297273:K482E	K	+	1	0	CASD1	94011746	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.295000	0.96095	1.925000	0.55765	0.374000	0.22700	AAA		PASS	0.363	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		8	114	8	114	---	---	---	---
PILRA	29992	broad.mit.edu	37	7	99997407	99997407	+	Splice_Site	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:99997407G>C	ENST00000198536.2	+	7	1001		c.e7-1		PILRA_ENST00000453419.1_Intron|PILRA_ENST00000394000.2_Splice_Site|PILRA_ENST00000350573.2_Splice_Site	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha						signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCTCGCCCAGGATGACGGCA	0.602																																						uc003uuo.1																			1	Unknown(1)		lung(1)	skin(1)	1						c.e7-1		paired immunoglobulin-like type 2 receptor alpha							157.0	127.0	137.0					7																	99997407		2203	4300	6503	SO:0001630	splice_region_variant	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99997407G>C	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.790-1G>C	7.37:g.99997407G>C						PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Splice_Site_p.D191_splice|PILRA_uc003uuq.1_Splice_Site	p.D264_splice	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			7	1002	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							Q8NHI1	Splice_Site	SNP	ENST00000198536.2	37	c.790_splice	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	.	12.03	1.815546	0.32145	.	.	ENSG00000085514	ENST00000198536;ENST00000350573	.	.	.	5.24	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6071	0.45400	0.0911:0.0:0.9089:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PILRA	99835343	0.999000	0.42202	0.266000	0.24541	0.001000	0.01503	2.380000	0.44327	1.535000	0.49220	-0.157000	0.13467	.		PASS	0.602	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439	Intron	8	140	8	140	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107341590	107341590	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:107341590G>A	ENST00000265715.3	+	16	1976	c.1752G>A	c.(1750-1752)gcG>gcA	p.A584A	SLC26A4_ENST00000543100.1_Silent_p.A153A|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Silent_p.A145A|SLC26A4_ENST00000544569.1_Silent_p.A171A	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	584	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.A584A(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGCTGAAAGCGCTGAGGAAAA	0.343									Pendred syndrome																													uc003vep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1750-1752)GCG>GCA		pendrin							81.0	89.0	86.0					7																	107341590		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107341590G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1752G>A	7.37:g.107341590G>A						SLC26A4_uc011kmb.1_Silent_p.A171A|SLC26A4_uc011kmc.1_Silent_p.A145A|SLC26A4_uc011kmd.1_Silent_p.A153A	p.A584A	NM_000441	NP_000432	O43511	S26A4_HUMAN			16	1976	+			584			STAS.|Cytoplasmic (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1752G>A	CCDS5746.1																																																																																				PASS	0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		13	57	13	57	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111462433	111462433	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:111462433C>A	ENST00000437633.1	-	27	3171	c.2915G>T	c.(2914-2916)cGc>cTc	p.R972L	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Missense_Mutation_p.R972L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	972					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R972L(1)|p.R960L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGCAACCAAGCGCATAACAGT	0.373																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(2914-2916)CGC>CTC		dedicator of cytokinesis 4							82.0	75.0	78.0					7																	111462433		1861	4094	5955	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111462433C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2915G>T	7.37:g.111462433C>A	ENSP00000404179:p.Arg972Leu					DOCK4_uc003vfw.2_Missense_Mutation_p.R413L|DOCK4_uc003vfy.2_Missense_Mutation_p.R1008L	p.R972L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			27	3184	-		Acute lymphoblastic leukemia(1;0.0441)	972					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2915G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.094090|5.094090	0.94149|0.94149	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.54866	.|0.55;0.55	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67636|0.67636	0.2914|0.2914	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.61697	.|0.99;0.884;0.99	.|P;P;D	.|0.63192	.|0.895;0.588;0.912	T|T	0.66952|0.66952	-0.5793|-0.5793	5|10	.|0.52906	.|T	.|0.07	.|.	18.5689|18.5689	0.91128|0.91128	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1008;972;972	.|Q149N5;Q8N1I0;Q8N1I0-2	.|.;DOCK4_HUMAN;.	S|L	424;996|960;972;972;960;971	.|ENSP00000410746:R972L;ENSP00000404179:R972L	.|ENSP00000345432:R960L	A|R	-|-	1|2	0|0	DOCK4|DOCK4	111249669|111249669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.967000|6.967000	0.76079|0.76079	2.673000|2.673000	0.90976|0.90976	0.650000|0.650000	0.86243|0.86243	GCT|CGC		PASS	0.373	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	14	4	14	---	---	---	---
MET	4233	broad.mit.edu	37	7	116417470	116417470	+	Missense_Mutation	SNP	C	C	G	rs45592846		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr7:116417470C>G	ENST00000318493.6	+	16	3528	c.3341C>G	c.(3340-3342)aCt>aGt	p.T1114S	MET_ENST00000397752.3_Missense_Mutation_p.T1096S|MET_ENST00000539704.1_5'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T1114S(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TATCATGGGACTTTGTTGGAC	0.343			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - Missense(1)	p.Q1029_G1105del(1)	lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(3286-3288)ACT>AGT		met proto-oncogene isoform b precursor							194.0	183.0	186.0					7																	116417470		1836	4085	5921	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116417470C>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3341C>G	7.37:g.116417470C>G	ENSP00000317272:p.Thr1114Ser					MET_uc010lkh.2_Missense_Mutation_p.T1114S|MET_uc011knj.1_Missense_Mutation_p.T666S	p.T1096S	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		16	3474	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1096			Protein kinase.|Cytoplasmic (Potential).		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3287C>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691240	0.88735	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	T;T	0.35421	1.31;1.31	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.27053	0.805	0.80722	D	1	B;D	0.59357	0.231;0.985	P;D	0.76575	0.459;0.988	T	0.44832	-0.9302	10	0.42905	T	0.14	.	19.2953	0.94119	0.0:1.0:0.0:0.0	rs45592846	1114;1096	P08581-2;P08581	.;MET_HUMAN	S	1096;1114	ENSP00000380860:T1096S;ENSP00000317272:T1114S	ENSP00000317272:T1114S	T	+	2	0	MET	116204706	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.753000	0.62183	2.628000	0.89032	0.655000	0.94253	ACT		PASS	0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			15	187	15	187	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10465017	10465017	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:10465017C>A	ENST00000382483.3	-	4	6814	c.6591G>T	c.(6589-6591)gaG>gaT	p.E2197D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2277	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E2197D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTGGGGCCTCTATACCTT	0.622																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6589-6591)GAG>GAT		retinitis pigmentosa 1-like 1							155.0	170.0	166.0					8																	10465017		1881	4102	5983	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465017C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6591G>T	8.37:g.10465017C>A	ENSP00000371923:p.Glu2197Asp						p.E2197D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6820	-			2197					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6591G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	2.829	-0.243060	0.05906	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	2.16	-4.31	0.03698	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.31191	0.125	T	0.38672	-0.9650	9	0.25106	T	0.35	.	1.1663	0.01816	0.3716:0.3138:0.1202:0.1944	.	2197	A6NKC6	.	D	2197	ENSP00000371923:E2197D	ENSP00000371923:E2197D	E	-	3	2	RP1L1	10502427	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.553000	0.06012	-1.360000	0.02172	-0.494000	0.04653	GAG		PASS	0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			94	410	94	410	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10469221	10469221	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:10469221G>T	ENST00000382483.3	-	4	2610	c.2387C>A	c.(2386-2388)gCc>gAc	p.A796D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	796					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.A796D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGTGTCCCTGGCCTCTTCCCC	0.682																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2386-2388)GCC>GAC		retinitis pigmentosa 1-like 1							51.0	56.0	54.0					8																	10469221		1962	4144	6106	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469221G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2387C>A	8.37:g.10469221G>T	ENSP00000371923:p.Ala796Asp						p.A796D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2616	-			796					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2387C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888443	0.33348	.	.	ENSG00000183638	ENST00000382483	T	0.04603	3.59	4.83	3.95	0.45737	.	0.491364	0.15189	N	0.275684	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.53360	0.724	T	0.28332	-1.0047	10	0.87932	D	0	-0.5825	9.0692	0.36482	0.1027:0.0:0.8973:0.0	.	796	A6NKC6	.	D	796	ENSP00000371923:A796D	ENSP00000371923:A796D	A	-	2	0	RP1L1	10506631	0.324000	0.24652	0.002000	0.10522	0.002000	0.02628	4.834000	0.62774	1.026000	0.39733	-0.379000	0.06801	GCC		PASS	0.682	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			25	83	25	83	---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17804751	17804751	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:17804751T>A	ENST00000519253.1	+	7	1091	c.840T>A	c.(838-840)caT>caA	p.H280Q	PCM1_ENST00000325083.8_Missense_Mutation_p.H280Q|PCM1_ENST00000518537.1_Missense_Mutation_p.H319Q|PCM1_ENST00000524226.1_Missense_Mutation_p.H280Q			Q15154	PCM1_HUMAN	pericentriolar material 1	280					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.H280Q(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGAAACAACATGATTTATTAA	0.403			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(838-840)CAT>CAA		pericentriolar material 1							90.0	89.0	90.0					8																	17804751		1856	4094	5950	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17804751T>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.840T>A	8.37:g.17804751T>A	ENSP00000431099:p.His280Gln					PCM1_uc011kyh.1_Missense_Mutation_p.H280Q|PCM1_uc003wyj.3_Missense_Mutation_p.H280Q|PCM1_uc003wyg.2_Missense_Mutation_p.H280Q|PCM1_uc003wyh.2_Missense_Mutation_p.H319Q|PCM1_uc010lta.1_Missense_Mutation_p.H319Q	p.H280Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	7	1262	+			280			Potential.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.840T>A		.	.	.	.	.	.	.	.	.	.	T	18.98	3.737182	0.69304	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.33865	3.31;2.16;1.39;1.79;3.32;3.08	5.76	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.987;0.999;0.999	D;D;D;D	0.73708	0.973;0.981;0.973;0.973	T	0.14896	-1.0456	10	0.44086	T	0.13	-21.0564	9.5435	0.39266	0.0:0.2711:0.0:0.7289	.	280;319;280;280	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	Q	280;319;319;319;280;280;280	ENSP00000327077:H280Q;ENSP00000428131:H319Q;ENSP00000428123:H319Q;ENSP00000429941:H280Q;ENSP00000431099:H280Q;ENSP00000430521:H280Q	ENSP00000327077:H280Q	H	+	3	2	PCM1	17849031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.283000	0.33237	0.527000	0.28560	0.482000	0.46254	CAT		PASS	0.403	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		15	65	15	65	---	---	---	---
CLU	1191	broad.mit.edu	37	8	27457472	27457472	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:27457472G>T	ENST00000316403.10	-	7	1394	c.989C>A	c.(988-990)tCc>tAc	p.S330Y	CLU_ENST00000546343.1_Missense_Mutation_p.S341Y|CLU_ENST00000560366.1_Missense_Mutation_p.S382Y|CLU_ENST00000523500.1_Missense_Mutation_p.S330Y|CLU_ENST00000405140.3_Missense_Mutation_p.S330Y			P10909	CLUS_HUMAN	clusterin	330					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.S382Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GACCTGGAGGGATTCGTCGAG	0.557																																						uc003xfw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(988-990)TCC>TAC		clusterin isoform 2							89.0	77.0	81.0					8																	27457472		2203	4300	6503	SO:0001583	missense	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27457472G>T	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.989C>A	8.37:g.27457472G>T	ENSP00000315130:p.Ser330Tyr					CLU_uc010lux.1_Missense_Mutation_p.S195Y|CLU_uc003xfx.1_Missense_Mutation_p.S330Y|CLU_uc003xfy.1_Missense_Mutation_p.S341Y|CLU_uc003xfz.1_Missense_Mutation_p.S382Y	p.S330Y	NM_203339	NP_976084	P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	6	1047	-		Ovarian(32;2.61e-05)	330					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	c.989C>A	CCDS47832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.487143|4.487143	0.84854|0.84854	.|.	.|.	ENSG00000120885|ENSG00000120885	ENST00000521770|ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012	.|T;T;T	.|0.27720	.|1.65;1.65;1.65	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Clusterin, C-terminal (1);	.|0.160860	.|0.53938	.|D	.|0.000041	T|T	0.57814|0.57814	0.2079|0.2079	M|M	0.77820|0.77820	2.39|2.39	0.46609|0.46609	D|D	0.999121|0.999121	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.996	.|D;D;D;D	.|0.70716	.|0.97;0.952;0.952;0.93	T|T	0.61367|0.61367	-0.7077|-0.7077	5|10	.|0.87932	.|D	.|0	-31.4813|-31.4813	17.1549|17.1549	0.86788|0.86788	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|195;382;341;330	.|E7ETA7;P10909-2;P10909-5;P10909	.|.;.;.;CLUS_HUMAN	T|Y	21|382;341;330;330;155;195	.|ENSP00000446413:S341Y;ENSP00000385419:S330Y;ENSP00000429620:S330Y	.|ENSP00000315130:S382Y	P|S	-|-	1|2	0|0	CLU|CLU	27513389|27513389	1.000000|1.000000	0.71417|0.71417	0.634000|0.634000	0.29324|0.29324	0.006000|0.006000	0.05464|0.05464	6.881000|6.881000	0.75584|0.75584	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	CCC|TCC		PASS	0.557	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		5	83	5	83	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35406925	35406925	+	Silent	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:35406925C>G	ENST00000404895.2	+	2	547	c.219C>G	c.(217-219)ctC>ctG	p.L73L	UNC5D_ENST00000453357.2_Silent_p.L68L|UNC5D_ENST00000416672.1_Silent_p.L73L|UNC5D_ENST00000420357.1_Silent_p.L73L|UNC5D_ENST00000287272.2_Silent_p.L73L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	73	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L68L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTATTGCACTCAGGTGCAAAG	0.512																																						uc003xjr.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(217-219)CTC>CTG		unc-5 homolog D precursor							65.0	59.0	61.0					8																	35406925		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406925C>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.219C>G	8.37:g.35406925C>G						UNC5D_uc003xjs.1_Silent_p.L68L	p.L73L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	547	+			73			Extracellular (Potential).|Ig-like.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.219C>G	CCDS6093.2																																																																																				PASS	0.512	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			13	59	13	59	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37729205	37729205	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:37729205C>A	ENST00000330843.4	-	4	3127	c.3115G>T	c.(3115-3117)Gtg>Ttg	p.V1039L	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1039					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.V1039L(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGAGCTGTCACAGATGCCTGG	0.582																																						uc003xkm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3115-3117)GTG>TTG		RAB11 family interacting protein 1 isoform 3							58.0	66.0	64.0					8																	37729205		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729205C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3115G>T	8.37:g.37729205C>A	ENSP00000331342:p.Val1039Leu					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.V368L|RAB11FIP1_uc003xko.1_Missense_Mutation_p.V368L|RAB11FIP1_uc003xkp.1_Intron	p.V1039L	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3159	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1039					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3115G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687940	0.48097	.	.	ENSG00000156675	ENST00000330843	T	0.13196	2.61	4.83	2.8	0.32819	.	1.126640	0.06806	N	0.789620	T	0.13798	0.0334	L	0.36672	1.1	0.21105	N	0.999781	P;B	0.42518	0.782;0.421	B;B	0.43658	0.426;0.039	T	0.25847	-1.0120	10	0.26408	T	0.33	-0.2497	6.6528	0.22971	0.0:0.7406:0.0:0.2594	.	368;1039	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	L	1039	ENSP00000331342:V1039L	ENSP00000331342:V1039L	V	-	1	0	RAB11FIP1	37848363	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	0.245000	0.18142	0.964000	0.38108	0.655000	0.94253	GTG		PASS	0.582	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		11	129	11	129	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538558	55538558	+	Missense_Mutation	SNP	G	G	T	rs199879316	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:55538558G>T	ENST00000220676.1	+	4	2264	c.2116G>T	c.(2116-2118)Ggt>Tgt	p.G706C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	706			G -> R (in dbSNP:rs199879316). {ECO:0000269|PubMed:20664799}.		axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.G706C(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACACAAAAGGTAGAATTAC	0.363																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(2116-2118)GGT>TGT		retinitis pigmentosa RP1 protein							46.0	45.0	45.0					8																	55538558		2203	4298	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538558G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2116G>T	8.37:g.55538558G>T	ENSP00000220676:p.Gly706Cys					RP1_uc011ldy.1_Intron	p.G706C	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2264	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	706		G -> R.				Missense_Mutation	SNP	ENST00000220676.1	37	c.2116G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862001	0.17178	.	.	ENSG00000104237	ENST00000220676	T	0.23754	1.89	5.93	1.53	0.23141	.	0.452533	0.20803	N	0.085384	T	0.28599	0.0708	L	0.32530	0.975	0.09310	N	1	D	0.69078	0.997	P	0.57283	0.817	T	0.05733	-1.0867	10	0.66056	D	0.02	.	7.3285	0.26569	0.1807:0.2625:0.5568:0.0	.	706	P56715	RP1_HUMAN	C	706	ENSP00000220676:G706C	ENSP00000220676:G706C	G	+	1	0	RP1	55701111	0.183000	0.23186	0.023000	0.16930	0.038000	0.13279	1.127000	0.31357	0.385000	0.24970	0.591000	0.81541	GGT		PASS	0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		8	32	8	32	---	---	---	---
TTPA	7274	broad.mit.edu	37	8	63973891	63973891	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:63973891C>G	ENST00000260116.4	-	5	788	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	253	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.E253Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CAAATGTCCTCCATGGAGAAT	0.383																																						uc003xux.1																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GAG>CAG		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						89.0	89.0	89.0					8																	63973891		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63973891C>G	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.757G>C	8.37:g.63973891C>G	ENSP00000260116:p.Glu253Gln						p.E253Q	NM_000370	NP_000361	P49638	TTPA_HUMAN			5	789	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	253			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.757G>C	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245131	0.59103	.	.	ENSG00000137561	ENST00000260116	D	0.84298	-1.83	5.86	4.05	0.47172	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.366030	0.33364	N	0.004983	T	0.78710	0.4326	L	0.59436	1.845	0.32892	D	0.511998	P	0.52842	0.956	B	0.36959	0.237	T	0.83092	-0.0132	10	0.36615	T	0.2	.	10.7387	0.46141	0.0:0.7974:0.0:0.2026	.	253	P49638	TTPA_HUMAN	Q	253	ENSP00000260116:E253Q	ENSP00000260116:E253Q	E	-	1	0	TTPA	64136445	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.659000	0.46741	1.628000	0.50416	0.650000	0.86243	GAG		PASS	0.383	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		18	67	18	67	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68074067	68074067	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:68074067A>G	ENST00000262210.5	+	20	2576	c.2545A>G	c.(2545-2547)Ata>Gta	p.I849V	CSPP1_ENST00000412460.1_Missense_Mutation_p.I504V|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	884	Glu-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.I849V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCTTCTCCTATAGTTCCTGC	0.363																																						uc003xxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2650-2652)ATA>GTA		centrosome spindle pole associated protein 1							169.0	163.0	165.0					8																	68074067		1856	4110	5966	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68074067A>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2545A>G	8.37:g.68074067A>G	ENSP00000262210:p.Ile849Val					CSPP1_uc003xxj.2_Missense_Mutation_p.I849V|CSPP1_uc003xxk.2_Missense_Mutation_p.I504V|CSPP1_uc010lyw.2_5'Flank	p.I884V	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		22	2681	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	884					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2650A>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	1.711	-0.499076	0.04291	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.27256	1.7;1.68;1.68	5.12	3.25	0.37280	.	0.277689	0.35805	N	0.002976	T	0.04679	0.0127	N	0.00289	-1.7	0.20563	N	0.999885	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32877	-0.9890	10	0.15066	T	0.55	-7.106	3.2919	0.06952	0.1546:0.1352:0.5713:0.139	.	504;849;884	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	V	849;884;504;504	ENSP00000262210:I849V;ENSP00000415782:I504V;ENSP00000430092:I504V	ENSP00000262210:I849V	I	+	1	0	CSPP1	68236621	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.761000	0.38440	0.847000	0.35167	-0.182000	0.12963	ATA		PASS	0.363	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		17	149	17	149	---	---	---	---
ZFAND1	79752	broad.mit.edu	37	8	82626221	82626221	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:82626221C>T	ENST00000220669.5	-	6	430	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	ZFAND1_ENST00000521895.1_Missense_Mutation_p.E31K|ZFAND1_ENST00000519523.1_Missense_Mutation_p.E138K|ZFAND1_ENST00000522520.1_Missense_Mutation_p.E31K|ZFAND1_ENST00000517588.1_Missense_Mutation_p.E31K|ZFAND1_ENST00000521287.1_Missense_Mutation_p.E31K|ZFAND1_ENST00000523096.1_Missense_Mutation_p.E138K	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	138							zinc ion binding (GO:0008270)	p.E138K(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGCTGTTTCACTATTTTTG	0.348																																						uc003ycj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)GAA>AAA		zinc finger, AN1-type domain 1							196.0	167.0	177.0					8																	82626221		2203	4300	6503	SO:0001583	missense	79752						zinc ion binding	g.chr8:82626221C>T		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.412G>A	8.37:g.82626221C>T	ENSP00000220669:p.Glu138Lys					ZFAND1_uc010lzx.1_Missense_Mutation_p.E138K|ZFAND1_uc003yck.1_Missense_Mutation_p.E31K	p.E138K	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			6	426	-			138					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.412G>A	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460226	0.26248	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	3.95	0.45737	.	0.216602	0.47455	D	0.000230	T	0.40398	0.1115	L	0.31207	0.915	0.36644	D	0.877006	B;B	0.12013	0.004;0.005	B;B	0.11329	0.002;0.006	T	0.32322	-0.9911	9	0.06494	T	0.89	.	12.0027	0.53240	0.0:0.8119:0.1218:0.0662	.	138;138	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	K	138;138;31;31;31;31;31;138;31;31;31;31;31;31	.	ENSP00000220669:E138K	E	-	1	0	ZFAND1	82788776	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.448000	0.52943	0.743000	0.32719	-0.182000	0.12963	GAA		PASS	0.348	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		20	82	20	82	---	---	---	---
CA3	761	broad.mit.edu	37	8	86356352	86356352	+	Silent	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:86356352G>T	ENST00000285381.2	+	4	524	c.441G>T	c.(439-441)ctG>ctT	p.L147L	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	147					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.L147L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	GCATTTTTCTGAAGGTAAAGT	0.378																																						uc003ydj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(439-441)CTG>CTT		carbonic anhydrase III							51.0	51.0	51.0					8																	86356352		2203	4300	6503	SO:0001819	synonymous_variant	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86356352G>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.441G>T	8.37:g.86356352G>T						CA3_uc011lfv.1_RNA	p.L147L	NM_005181	NP_005172	P07451	CAH3_HUMAN			4	524	+			147					B2R867|B3KUC8|O60842	Silent	SNP	ENST00000285381.2	37	c.441G>T	CCDS6238.1																																																																																				PASS	0.378	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		6	47	6	47	---	---	---	---
EMC2	9694	broad.mit.edu	37	8	109482068	109482068	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:109482068G>A	ENST00000220853.3	+	6	412	c.377G>A	c.(376-378)cGt>cAt	p.R126H	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	126						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R126H(1)									GCAAGAAAGCGTAAGATTGCC	0.408																																						uc003ymw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(376-378)CGT>CAT		tetratricopeptide repeat domain 35							72.0	76.0	75.0					8																	109482068		2203	4300	6503	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109482068G>A	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.377G>A	8.37:g.109482068G>A	ENSP00000220853:p.Arg126His						p.R126H	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		6	412	+			126					Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.377G>A	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.972848|3.972848	0.74246|0.74246	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000220853|ENST00000519642	T|.	0.76709|.	-1.04|.	5.62|5.62	4.69|4.69	0.59074|0.59074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79429|0.79429	0.4444|0.4444	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.82816|0.82816	-0.0270|-0.0270	10|5	0.72032|.	D|.	0.01|.	-8.8002|-8.8002	13.6356|13.6356	0.62221|0.62221	0.0807:0.0:0.9193:0.0|0.0807:0.0:0.9193:0.0	.|.	126|.	Q15006|.	TTC35_HUMAN|.	H|I	126|74	ENSP00000220853:R126H|.	ENSP00000220853:R126H|.	R|V	+|+	2|1	0|0	TTC35|TTC35	109551244|109551244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.583000|7.583000	0.82559|0.82559	1.371000|1.371000	0.46172|0.46172	0.650000|0.650000	0.86243|0.86243	CGT|GTA		PASS	0.408	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		11	84	11	84	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113267647	113267647	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:113267647C>T	ENST00000297405.5	-	62	10116	c.9872G>A	c.(9871-9873)tGt>tAt	p.C3291Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.C3251Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3221Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C3122Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3291	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C3251Y(1)|p.C3291Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGGTCACCACAAAACTTTGC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9871-9873)TGT>TAT		CUB and Sushi multiple domains 3 isoform 1							83.0	79.0	81.0					8																	113267647		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113267647C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9872G>A	8.37:g.113267647C>T	ENSP00000297405:p.Cys3291Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.C2493Y|CSMD3_uc003ynt.2_Missense_Mutation_p.C3251Y|CSMD3_uc011lhx.1_Missense_Mutation_p.C3122Y	p.C3291Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			62	10031	-			3291			Extracellular (Potential).|Sushi 26.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9872G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169420	0.78452	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	4.99	4.99	0.66335	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	H	0.99516	4.605	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.989	D;D;P	0.91635	0.998;0.999;0.846	D	0.96025	0.9012	10	0.87932	D	0	.	18.485	0.90825	0.0:1.0:0.0:0.0	.	3122;3291;3251	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3251;3291;2561;3122;3221	ENSP00000345799:C3251Y;ENSP00000297405:C3291Y;ENSP00000341558:C2561Y;ENSP00000412263:C3122Y;ENSP00000343124:C3221Y	ENSP00000297405:C3291Y	C	-	2	0	CSMD3	113336823	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.581000	0.82535	2.601000	0.87937	0.650000	0.86243	TGT		PASS	0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	65	16	65	---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431513	120431513	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:120431513T>G	ENST00000259526.3	+	4	932	c.705T>G	c.(703-705)tgT>tgG	p.C235W	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	1556	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.C235W(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			ACCGTCAATGTGAGATGCTGA	0.547																																						uc003yoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(703-705)TGT>TGG		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						143.0	135.0	138.0					8																	120431513		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120431513T>G	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.705T>G	8.37:g.120431513T>G	ENSP00000259526:p.Cys235Trp						p.C235W	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		4	926	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		235			TSP type-1.			Missense_Mutation	SNP	ENST00000259526.3	37	c.705T>G	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766192	0.69878	.	.	ENSG00000136999	ENST00000259526	T	0.69435	-0.4	5.96	0.892	0.19230	.	0.000000	0.85682	D	0.000000	D	0.85818	0.5785	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86350	0.1710	10	0.87932	D	0	-8.5647	10.3475	0.43913	0.0:0.2085:0.0:0.7915	.	235	P48745	NOV_HUMAN	W	235	ENSP00000259526:C235W	ENSP00000259526:C235W	C	+	3	2	NOV	120500694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.565000	0.23578	0.134000	0.18681	0.533000	0.62120	TGT		PASS	0.547	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		15	196	15	196	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135614756	135614756	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:135614756C>T	ENST00000377838.3	-	6	1380	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ZFAT_ENST00000520214.1_Silent_p.L390L|ZFAT_ENST00000520727.1_Silent_p.L390L|ZFAT_ENST00000523399.1_Silent_p.L340L|ZFAT_ENST00000429442.2_Silent_p.L390L|ZFAT_ENST00000520356.1_Silent_p.L390L|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	402					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L390L(1)|p.L402L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTCATAGAGCAGCTGCCGCT	0.577																																						uc003yup.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1204-1206)CTG>CTA		zinc finger protein 406 isoform ZFAT-1							50.0	53.0	52.0					8																	135614756		2090	4216	6306	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614756C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1206G>A	8.37:g.135614756C>T						ZFAT_uc003yun.2_Silent_p.L390L|ZFAT_uc003yuo.2_Silent_p.L390L|ZFAT_uc010meh.2_Silent_p.L390L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.L390L|ZFAT_uc010mej.2_Silent_p.L340L|ZFAT_uc003yur.2_Silent_p.L390L	p.L402L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1381	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		402					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1206G>A	CCDS47924.1																																																																																				PASS	0.577	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		14	57	14	57	---	---	---	---
LYNX1	66004	broad.mit.edu	37	8	143856736	143856736	+	Intron	SNP	C	C	A	rs199529658	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr8:143856736C>A	ENST00000335822.5	-	3	782				LYNX1_ENST00000395192.2_Missense_Mutation_p.R67L|LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000398906.1_Missense_Mutation_p.R67L|LYNX1_ENST00000522906.1_5'Flank|LYNX1_ENST00000345173.6_Missense_Mutation_p.R67L	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R67L(1)		endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTCGAAGCAGCGGGGCACGCA	0.657																																						uc003yxc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CGC>CTC		Ly-6 neurotoxin-like protein 1 isoform c																																				SO:0001627	intron_variant	66004					anchored to membrane|plasma membrane		g.chr8:143856736C>A	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.154+274G>T	8.37:g.143856736C>A						LYNX1_uc003yxb.2_Intron|LYNX1_uc003yxd.1_Missense_Mutation_p.R67L|LYNX1_uc003yxe.1_Missense_Mutation_p.R67L	p.R67L	NM_177476	NP_803429	Q9BZG9	LYNX1_HUMAN			4	470	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		67			UPAR/Ly6.		D3DWI7|G3XAC2|Q86SR0	Missense_Mutation	SNP	ENST00000335822.5	37	c.200G>T	CCDS34951.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534906	0.45073	.	.	ENSG00000180155	ENST00000395192;ENST00000398906;ENST00000345173;ENST00000522929;ENST00000520131	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	4.71	1.27	0.21489	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	.	.	.	.	T	0.42426	0.1202	N	0.14661	0.345	0.09310	N	0.999991	B	0.12630	0.006	B	0.13407	0.009	T	0.20371	-1.0277	9	0.27785	T	0.31	.	3.277	0.06902	0.0:0.4911:0.2137:0.2951	.	67	Q9BZG9	LYNX1_HUMAN	L	67	ENSP00000378618:R67L;ENSP00000381878:R67L;ENSP00000332495:R67L;ENSP00000429261:R67L;ENSP00000428157:R67L	ENSP00000332495:R67L	R	-	2	0	LYNX1	143853738	0.521000	0.26258	0.999000	0.59377	0.978000	0.69477	-0.563000	0.05943	0.871000	0.35750	0.655000	0.94253	CGC		PASS	0.657	LYNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379786.3	NM_177476		6	47	6	47	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34306263	34306263	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr9:34306263T>G	ENST00000402558.2	-	2	824	c.800A>C	c.(799-801)cAa>cCa	p.Q267P	KIF24_ENST00000379174.3_Missense_Mutation_p.Q267P|KIF24_ENST00000379166.2_Missense_Mutation_p.Q267P|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267P			Q5T7B8	KIF24_HUMAN	kinesin family member 24	267	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.Q267P(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)			CAGAATATATTGAGTGAGGTC	0.348																																						uc003zua.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(799-801)CAA>CCA		kinesin family member 24							215.0	215.0	215.0					9																	34306263		1860	4085	5945	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34306263T>G	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.800A>C	9.37:g.34306263T>G	ENSP00000384433:p.Gln267Pro					KIF24_uc010mkb.2_Missense_Mutation_p.Q298P	p.Q267P	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		3	920	-			267			Kinesin-motor.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.800A>C	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717156	0.48622	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.75477	-0.92;-0.94;-0.92;-0.94	5.83	5.83	0.93111	Kinesin, motor domain (4);	0.000000	0.39985	N	0.001203	T	0.74520	0.3727	N	0.05383	-0.06	0.29219	N	0.874047	D;D	0.76494	0.999;0.999	D;D	0.78314	0.966;0.991	T	0.74987	-0.3476	10	0.72032	D	0.01	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	267;267	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	P	267	ENSP00000384433:Q267P;ENSP00000368472:Q267P;ENSP00000368464:Q267P;ENSP00000340179:Q267P	ENSP00000340179:Q267P	Q	-	2	0	KIF24	34296263	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.759000	0.68785	2.236000	0.73375	0.533000	0.62120	CAA		PASS	0.348	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			24	249	24	249	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35608436	35608436	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr9:35608436C>T	ENST00000336395.5	+	9	1180	c.930C>T	c.(928-930)caC>caT	p.H310H	MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.H310H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTACCCAGCACCTGGAATGGA	0.592																																						uc003zxa.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(928-930)CAC>CAT		testis-specific protein kinase 1							65.0	60.0	62.0					9																	35608436		2203	4300	6503	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608436C>T	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.930C>T	9.37:g.35608436C>T						TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.H150H	p.H310H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1266	+			310			Protein kinase.		Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.930C>T	CCDS6580.1																																																																																				PASS	0.592	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		15	45	15	45	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79875069	79875069	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr9:79875069A>G	ENST00000360280.3	+	23	2616	c.2356A>G	c.(2356-2358)Atg>Gtg	p.M786V	VPS13A_ENST00000376634.4_Missense_Mutation_p.M786V|VPS13A_ENST00000376636.3_Missense_Mutation_p.M786V|VPS13A_ENST00000357409.5_Missense_Mutation_p.M786V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	786					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.M786V(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAAGGGATTATGGAATTGAT	0.294																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(2356-2358)ATG>GTG		vacuolar protein sorting 13A isoform A							58.0	59.0	59.0					9																	79875069		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79875069A>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2356A>G	9.37:g.79875069A>G	ENSP00000353422:p.Met786Val					VPS13A_uc004akp.3_Missense_Mutation_p.M786V|VPS13A_uc004akq.3_Missense_Mutation_p.M786V|VPS13A_uc004aks.2_Missense_Mutation_p.M786V	p.M786V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			23	2616	+			786					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2356A>G	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.932324	0.34096	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.47	1.6	0.23607	.	0.133651	0.52532	D	0.000077	T	0.24353	0.0590	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.04565	-1.0942	10	0.45353	T	0.12	.	5.8515	0.18696	0.4109:0.0:0.0975:0.4916	.	786;786;786;786	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	786	ENSP00000365821:M786V;ENSP00000365823:M786V;ENSP00000353422:M786V;ENSP00000349985:M786V	ENSP00000349985:M786V	M	+	1	0	VPS13A	79064889	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	0.352000	0.20113	0.373000	0.24621	0.482000	0.46254	ATG		PASS	0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		28	54	28	54	---	---	---	---
INVS	27130	broad.mit.edu	37	9	103014591	103014591	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr9:103014591C>A	ENST00000262457.2	+	9	1290	c.1105C>A	c.(1105-1107)Cat>Aat	p.H369N	INVS_ENST00000541287.1_Missense_Mutation_p.H273N|INVS_ENST00000262456.2_Missense_Mutation_p.H369N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	369					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.H369N(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TCTTTCTGGCCATGTCAGCAC	0.388																																						uc004bap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1105-1107)CAT>AAT		inversin isoform a							209.0	194.0	199.0					9																	103014591		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103014591C>A	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1105C>A	9.37:g.103014591C>A	ENSP00000262457:p.His369Asn					INVS_uc010mta.1_Missense_Mutation_p.H273N|INVS_uc011lve.1_Missense_Mutation_p.H273N|INVS_uc004bao.1_Missense_Mutation_p.H369N|INVS_uc004baq.1_Missense_Mutation_p.H273N|INVS_uc004bar.1_Missense_Mutation_p.H273N|INVS_uc010mtb.1_Missense_Mutation_p.H43N	p.H369N	NM_014425	NP_055240	Q9Y283	INVS_HUMAN			9	1317	+		Acute lymphoblastic leukemia(62;0.056)	369			ANK 11.		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.1105C>A	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724273	0.89298	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.62105	0.05;0.05;0.05	5.57	5.57	0.84162	Ankyrin repeat-containing domain (4);	0.045587	0.85682	D	0.000000	T	0.64091	0.2567	N	0.21373	0.66	0.80722	D	1	P;P;P	0.42518	0.741;0.782;0.589	B;P;P	0.51550	0.439;0.673;0.544	T	0.66783	-0.5836	10	0.62326	D	0.03	.	19.5515	0.95323	0.0:1.0:0.0:0.0	.	273;369;369	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	N	369;273;369	ENSP00000262457:H369N;ENSP00000444454:H273N;ENSP00000262456:H369N	ENSP00000262456:H369N	H	+	1	0	INVS	102054412	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.757000	0.85209	2.634000	0.89283	0.557000	0.71058	CAT		PASS	0.388	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		6	223	6	223	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43287953	43287953	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr10:43287953G>T	ENST00000374518.5	+	7	855	c.792G>T	c.(790-792)ttG>ttT	p.L264F		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	264					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.L264F(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGAAGATTTGACAAACCCAG	0.363																																						uc001jaj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(790-792)TTG>TTT		BMS1-like, ribosome assembly protein							110.0	114.0	113.0					10																	43287953		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43287953G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.792G>T	10.37:g.43287953G>T	ENSP00000363642:p.Leu264Phe						p.L264F	NM_014753	NP_055568	Q14692	BMS1_HUMAN			7	1150	+			264					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.792G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	17.81	3.480609	0.63849	.	.	ENSG00000165733	ENST00000374518	T	0.44881	0.91	5.48	3.64	0.41730	AARP2CN (2);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.82716	2.605	0.42369	D	0.992447	D	0.89917	1.0	D	0.97110	1.0	T	0.65340	-0.6192	10	0.40728	T	0.16	.	11.9409	0.52901	0.1403:0.0:0.8597:0.0	.	264	Q14692	BMS1_HUMAN	F	264	ENSP00000363642:L264F	ENSP00000363642:L264F	L	+	3	2	BMS1	42607959	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.410000	0.44592	0.725000	0.32318	-0.244000	0.11960	TTG		PASS	0.363	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		9	84	9	84	---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74673200	74673200	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr10:74673200C>G	ENST00000334011.5	+	6	1143	c.925C>G	c.(925-927)Ctc>Gtc	p.L309V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	309	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L309V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCTCTTCTCTCTCAAGACATG	0.562																																					Colon(7;19 345 13446 17537)	uc001jte.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(925-927)CTC>GTC		oncoprotein-induced transcript 3 precursor							125.0	103.0	110.0					10																	74673200		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74673200C>G		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.925C>G	10.37:g.74673200C>G	ENSP00000333900:p.Leu309Val					OIT3_uc009xqs.1_RNA	p.L309V	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			6	1143	+	Prostate(51;0.0198)		309			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.925C>G	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518195	0.85495	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.84730	-1.89	5.95	5.95	0.96441	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.48286	D	0.000192	D	0.92286	0.7553	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91709	0.5380	10	0.46703	T	0.11	-34.3185	15.517	0.75833	0.0:0.9324:0.0:0.0676	.	309	Q8WWZ8	OIT3_HUMAN	V	309	ENSP00000333900:L309V	ENSP00000333900:L309V	L	+	1	0	OIT3	74343206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.596000	0.54024	2.824000	0.97209	0.655000	0.94253	CTC		PASS	0.562	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		6	87	6	87	---	---	---	---
IFIT2	3433	broad.mit.edu	37	10	91065931	91065931	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr10:91065931G>T	ENST00000371826.3	+	2	387	c.218G>T	c.(217-219)tGc>tTc	p.C73F	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	73					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.C73F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GCCCTGGAATGCTTACGTAAA	0.483																																						uc009xts.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(217-219)TGC>TTC		interferon-induced protein with							78.0	81.0	80.0					10																	91065931		2203	4300	6503	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91065931G>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.218G>T	10.37:g.91065931G>T	ENSP00000360891:p.Cys73Phe					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.C73F	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	393	+		Colorectal(252;0.0161)	73			TPR 1.		Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.218G>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302150	0.23736	.	.	ENSG00000119922	ENST00000371826	T	0.73789	-0.78	4.58	-0.432	0.12291	Tetratricopeptide-like helical (1);	0.564958	0.18393	U	0.142584	T	0.63861	0.2547	M	0.66939	2.045	0.09310	N	1	B	0.18461	0.028	B	0.19666	0.026	T	0.48080	-0.9066	10	0.21014	T	0.42	-1.3578	4.504	0.11878	0.4732:0.0:0.3742:0.1526	.	73	P09913	IFIT2_HUMAN	F	73	ENSP00000360891:C73F	ENSP00000360891:C73F	C	+	2	0	IFIT2	91055911	0.000000	0.05858	0.002000	0.10522	0.172000	0.22775	-0.227000	0.09126	-0.063000	0.13065	0.655000	0.94253	TGC		PASS	0.483	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		4	59	4	59	---	---	---	---
SLC35G1	159371	broad.mit.edu	37	10	95660993	95660993	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr10:95660993G>A	ENST00000427197.1	+	3	905	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	SLC35G1_ENST00000371408.3_Missense_Mutation_p.G281R	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	282	EamA 2.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G281R(1)									GCCTTACTGTGGGTTGGACAG	0.433																																						uc001kjg.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(844-846)GGG>AGG		transmembrane protein 20 isoform 1							101.0	103.0	102.0					10																	95660993		2203	4300	6503	SO:0001583	missense	159371					integral to membrane		g.chr10:95660993G>A	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.844G>A	10.37:g.95660993G>A	ENSP00000400932:p.Gly282Arg					TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.G281R|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.G265R|TMEM20_uc001kjj.2_Intron	p.G282R	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN		STAD - Stomach adenocarcinoma(243;0.00345)	3	905	+		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)	282			DUF6 2.		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	c.844G>A	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607579	0.87157	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.48201	0.82;0.82	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	M	0.86420	2.815	0.80722	D	1	P;P;P	0.46656	0.882;0.873;0.721	P;P;B	0.53102	0.718;0.616;0.349	T	0.63853	-0.6543	10	0.23302	T	0.38	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	265;282;281	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	R	281;282	ENSP00000360462:G281R;ENSP00000400932:G282R	ENSP00000360462:G281R	G	+	1	0	SLC35G1	95650983	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	9.330000	0.96422	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.433	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		11	95	11	95	---	---	---	---
NFKB2	4791	broad.mit.edu	37	10	104159110	104159110	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr10:104159110A>G	ENST00000369966.3	+	13	1433	c.1183A>G	c.(1183-1185)Atg>Gtg	p.M395V	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.M395V|NFKB2_ENST00000189444.6_Missense_Mutation_p.M395V	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	395	Gly-rich.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.M395V(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CGCGGGCCCCATGGGCTGCTA	0.736			T	IGH@	B-NHL																																	uc001kvb.2				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(1183-1185)ATG>GTG		nuclear factor of kappa light polypeptide gene							7.0	9.0	8.0					10																	104159110		1692	3761	5453	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104159110A>G	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1183A>G	10.37:g.104159110A>G	ENSP00000358983:p.Met395Val					NFKB2_uc001kva.2_Missense_Mutation_p.M395V|NFKB2_uc001kvd.2_Missense_Mutation_p.M395V|NFKB2_uc009xxc.2_Missense_Mutation_p.M395V	p.M395V	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	13	1448	+		Colorectal(252;0.00957)	395			Gly-rich.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.1183A>G	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835237	0.32421	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.16597	2.33;2.33;2.33	4.5	2.08	0.27032	.	0.788443	0.12705	N	0.446052	T	0.05731	0.0150	N	0.04508	-0.205	0.21579	N	0.999631	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40040	-0.9584	10	0.14656	T	0.56	.	1.9435	0.03352	0.5645:0.0:0.1685:0.267	.	395;395	Q00653;A8K9D9	NFKB2_HUMAN;.	V	395	ENSP00000410256:M395V;ENSP00000358983:M395V;ENSP00000189444:M395V	ENSP00000189444:M395V	M	+	1	0	NFKB2	104149100	0.600000	0.26899	0.993000	0.49108	0.987000	0.75469	0.899000	0.28417	0.745000	0.32763	0.418000	0.28097	ATG		PASS	0.736	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			6	4	6	4	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118451905	118451905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr10:118451905C>T	ENST00000369209.3	-	6	724	c.620G>A	c.(619-621)tGg>tAg	p.W207*		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	207						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.W828*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGGCTGCTTCCAGATGGCAGG	0.572																																						uc001lct.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(619-621)TGG>TAG		heat shock 70kDa protein 12A							125.0	137.0	133.0					10																	118451905		2197	4300	6497	SO:0001587	stop_gained	259217						ATP binding	g.chr10:118451905C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.620G>A	10.37:g.118451905C>T	ENSP00000358211:p.Trp207*					HSPA12A_uc001lcu.2_Nonsense_Mutation_p.W124*	p.W207*	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	6	725	-			207						Nonsense_Mutation	SNP	ENST00000369209.3	37	c.620G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	40	8.218627	0.98712	.	.	ENSG00000165868	ENST00000369209	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000358211:W207X	W	-	2	0	HSPA12A	118441895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.382000	0.79729	2.755000	0.94549	0.655000	0.94253	TGG		PASS	0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		63	157	63	157	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020860	5020860	+	Silent	SNP	A	A	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:5020860A>T	ENST00000321543.1	+	1	648	c.648A>T	c.(646-648)atA>atT	p.I216I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I216I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCTTCATACTTCTTTCTT	0.413																																						uc010qyu.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(646-648)ATA>ATT		olfactory receptor, family 51, subfamily L,							230.0	203.0	212.0					11																	5020860		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020860A>T	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.648A>T	11.37:g.5020860A>T							p.I216I	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	648	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	216			Helical; Name=5; (Potential).		Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.648A>T	CCDS31369.1																																																																																				PASS	0.413	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		18	68	18	68	---	---	---	---
OR52W1	120787	broad.mit.edu	37	11	6220979	6220979	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:6220979G>A	ENST00000311352.2	+	1	604	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A176T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACTTCCAAGCCAAGACCAT	0.512																																						uc010qzz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)GCC>ACC		olfactory receptor, family 52, subfamily W,							141.0	110.0	121.0					11																	6220979		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6220979G>A	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.526G>A	11.37:g.6220979G>A	ENSP00000309673:p.Ala176Thr						p.A176T	NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	526	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	176			Extracellular (Potential).		Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.526G>A	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	G	2.204	-0.382340	0.04966	.	.	ENSG00000175485	ENST00000311352	T	0.00076	8.76	4.94	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.440584	0.16931	N	0.193648	T	0.00073	0.0002	N	0.10874	0.06	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.19128	-1.0315	10	0.09338	T	0.73	.	0.8121	0.01095	0.3312:0.1555:0.3528:0.1605	.	176	Q6IF63	O52W1_HUMAN	T	176	ENSP00000309673:A176T	ENSP00000309673:A176T	A	+	1	0	OR52W1	6177555	0.000000	0.05858	0.557000	0.28306	0.940000	0.58332	-0.883000	0.04170	0.790000	0.33803	0.655000	0.94253	GCC		PASS	0.512	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		13	49	13	49	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46921426	46921426	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:46921426C>T	ENST00000378623.1	-	4	660	c.418G>A	c.(418-420)Gat>Aat	p.D140N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	140	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D140N(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACTGCTCATCGCTGTTGTCG	0.617																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(418-420)GAT>AAT		low density lipoprotein receptor-related protein							101.0	91.0	94.0					11																	46921426		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921426C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.418G>A	11.37:g.46921426C>T	ENSP00000367888:p.Asp140Asn					LRP4_uc009ylh.1_Missense_Mutation_p.D91N	p.D140N	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	4	564	-			140			Extracellular (Potential).|LDL-receptor class A 3.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.418G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576240	0.96553	.	.	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.99214	-5.57;-5.57	5.33	5.33	0.75918	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.97490	1.0053	10	0.72032	D	0.01	.	19.3882	0.94566	0.0:1.0:0.0:0.0	.	185;140	C9JRN7;O75096	.;LRP4_HUMAN	N	140;91	ENSP00000367888:D140N;ENSP00000434763:D91N	ENSP00000367888:D140N	D	-	1	0	LRP4	46878002	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.879000	0.69690	2.666000	0.90696	0.511000	0.50034	GAT		PASS	0.617	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	92	8	92	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974527	49974527	+	Missense_Mutation	SNP	C	C	A	rs149246983	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:49974527C>A	ENST00000555099.1	+	1	585	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L185I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTGATCAATCTTGCCTGCAC	0.438																																						uc010rhz.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(553-555)CTT>ATT		olfactory receptor, family 4, subfamily C,							232.0	206.0	215.0					11																	49974527		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974527C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.553C>A	11.37:g.49974527C>A	ENSP00000452277:p.Leu185Ile						p.L185I	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	553	+			185			Extracellular (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.553C>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	9.392	1.075661	0.20227	.	.	ENSG00000258817	ENST00000555099	T	0.00379	7.65	2.7	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000805	T	0.00666	0.0022	M	0.77313	2.365	0.20196	N	0.99992	D	0.61697	0.99	D	0.63283	0.913	T	0.44772	-0.9306	9	.	.	.	.	7.2179	0.25969	0.0:0.8507:0.0:0.1493	.	185	Q8NGP0	OR4CD_HUMAN	I	185	ENSP00000452277:L185I	.	L	+	1	0	OR4C13	49931103	0.762000	0.28451	0.876000	0.34364	0.070000	0.16714	1.506000	0.35747	1.524000	0.49035	0.186000	0.17326	CTT		PASS	0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		20	190	20	190	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56058363	56058363	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:56058363A>G	ENST00000313022.2	-	1	203	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M59T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAAAAAATACATGGGAGTGTG	0.403																																						uc010rje.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(175-177)ATG>ACG		olfactory receptor, family 8, subfamily H,							248.0	237.0	241.0					11																	56058363		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058363A>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.176T>C	11.37:g.56058363A>G	ENSP00000323595:p.Met59Thr						p.M59T	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	176	-	Esophageal squamous(21;0.00448)		59			Helical; Name=2; (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.176T>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589702	0.28357	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.09817	2.94	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.39064	0.1064	M	0.92459	3.31	0.30886	N	0.73088	D	0.63880	0.993	D	0.67382	0.951	T	0.56098	-0.8035	10	0.87932	D	0	.	12.7141	0.57105	1.0:0.0:0.0:0.0	.	59	Q8NGG4	OR8H1_HUMAN	T	59;55	ENSP00000323595:M59T	ENSP00000323595:M59T	M	-	2	0	OR8H1	55814939	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	5.178000	0.65037	1.636000	0.50526	0.240000	0.17902	ATG		PASS	0.403	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		78	281	78	281	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58206755	58206755	+	Silent	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:58206755C>G	ENST00000302572.2	-	1	891	c.870G>C	c.(868-870)ctG>ctC	p.L290L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L290L(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTTGTTCCTCAGGCTGTAGA	0.393																																						uc010rkh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(868-870)CTG>CTC		olfactory receptor, family 5, subfamily B,							78.0	73.0	75.0					11																	58206755		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206755C>G	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.870G>C	11.37:g.58206755C>G							p.L290L	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	870	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	290			Helical; Name=7; (Potential).		B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.870G>C	CCDS31551.1																																																																																				PASS	0.393	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		5	95	5	95	---	---	---	---
GLYATL1	92292	broad.mit.edu	37	11	58723372	58723372	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:58723372C>T	ENST00000317391.4	+	8	1121	c.781C>T	c.(781-783)Cca>Tca	p.P261S	RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.P292S	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	261						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.P261S(1)|p.P292S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAAGAATATTCCATTTTACAT	0.458																																						uc001nnf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(781-783)CCA>TCA		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						77.0	72.0	73.0					11																	58723372		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723372C>T	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.781C>T	11.37:g.58723372C>T	ENSP00000322223:p.Pro261Ser					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P292S|GLYATL1_uc001nni.1_Missense_Mutation_p.P261S|GLYATL1_uc001nnj.1_Missense_Mutation_p.P261S	p.P261S			Q969I3	GLYL1_HUMAN			8	1157	+			261					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.781C>T	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.295717	0.40594	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.16743	2.32;2.32	1.97	1.97	0.26223	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.000000	0.64402	U	0.000018	T	0.34919	0.0914	M	0.75085	2.285	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.03095	-1.1073	10	0.45353	T	0.12	.	7.0213	0.24916	0.0:1.0:0.0:0.0	.	292;261	Q969I3-2;Q969I3	.;GLYL1_HUMAN	S	238;261;292	ENSP00000322223:P261S;ENSP00000300079:P292S	ENSP00000300079:P292S	P	+	1	0	GLYATL1	58479948	0.188000	0.23250	0.022000	0.16811	0.151000	0.21798	2.072000	0.41510	0.886000	0.36113	0.411000	0.27672	CCA		PASS	0.458	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		14	98	14	98	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64417958	64417958	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:64417958G>T	ENST00000377551.1	-	14	3282	c.3071C>A	c.(3070-3072)aCg>aAg	p.T1024K	NRXN2_ENST00000377559.3_Missense_Mutation_p.T984K|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.T1024K|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1017K			Q9P2S2	NRX2A_HUMAN	neurexin 2	1024	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.T1024K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGAGTGCTGCGTGACAGTGCG	0.602																																						uc001oar.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(3070-3072)ACG>AAG		neurexin 2 isoform alpha-1 precursor							257.0	208.0	224.0					11																	64417958		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64417958G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3071C>A	11.37:g.64417958G>T	ENSP00000366774:p.Thr1024Lys					NRXN2_uc001oas.2_Missense_Mutation_p.T984K|NRXN2_uc001oaq.2_Missense_Mutation_p.T691K	p.T1024K	NM_015080	NP_055895	P58401	NRX2B_HUMAN			16	3510	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3071C>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958140	0.92726	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43260	U	0.000582	D	0.84037	0.5384	L	0.48362	1.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.986;1.0	D;D;D	0.91635	0.978;0.942;0.999	D	0.85520	0.1203	10	0.72032	D	0.01	.	15.0551	0.71908	0.0:0.0:1.0:0.0	.	984;1024;770	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	1024;984;1024;984;1017	ENSP00000366774:T1024K;ENSP00000366782:T984K;ENSP00000265459:T1024K;ENSP00000386416:T1017K	ENSP00000265459:T1024K	T	-	2	0	NRXN2	64174534	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.593000	0.98250	2.488000	0.83962	0.655000	0.94253	ACG		PASS	0.602	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		53	234	53	234	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65273851	65273851	+	lincRNA	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:65273851T>C	ENST00000534336.1	+	0	8619					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCCTTGTCTTTTTCAGGTAAT	0.338																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							30.0	31.0	31.0					11																	65273851		874	1988	2862			378938							g.chr11:65273851T>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273851T>C						uc001ody.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.8619T>C																																																																																					PASS	0.338	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		9	23	9	23	---	---	---	---
GPR152	390212	broad.mit.edu	37	11	67219276	67219276	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:67219276C>A	ENST00000312457.2	-	1	924	c.920G>T	c.(919-921)cGc>cTc	p.R307L	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R307L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGCACGGAGCGCAGCAGGGT	0.647																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)CGC>CTC		G protein-coupled receptor 152							58.0	56.0	57.0					11																	67219276		2200	4295	6495	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219276C>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.920G>T	11.37:g.67219276C>A	ENSP00000310255:p.Arg307Leu					uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	p.R307L	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	925	-			307			Cytoplasmic (Potential).		Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.920G>T	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145093	0.21288	.	.	ENSG00000175514	ENST00000312457	T	0.37584	1.19	4.67	-4.76	0.03229	.	0.524644	0.16094	N	0.229940	T	0.16769	0.0403	L	0.32530	0.975	0.20926	N	0.99982	P	0.38827	0.649	B	0.31495	0.131	T	0.32877	-0.9890	10	0.16420	T	0.52	.	8.4014	0.32588	0.1241:0.2012:0.0:0.6747	.	307	Q8TDT2	GP152_HUMAN	L	307	ENSP00000310255:R307L	ENSP00000310255:R307L	R	-	2	0	GPR152	66975852	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-1.974000	0.01499	-0.930000	0.03752	0.561000	0.74099	CGC		PASS	0.647	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			18	71	18	71	---	---	---	---
SUV420H1	51111	broad.mit.edu	37	11	67925895	67925895	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:67925895C>G	ENST00000304363.4	-	11	2271	c.1918G>C	c.(1918-1920)Gac>Cac	p.D640H		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	640					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.D640H(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGTACCGCGTCGTCTTTTCCA	0.507																																						uc001onm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1918-1920)GAC>CAC		suppressor of variegation 4-20 homolog 1 isoform							90.0	81.0	84.0					11																	67925895		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925895C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1918G>C	11.37:g.67925895C>G	ENSP00000305899:p.Asp640His					SUV420H1_uc009yse.1_Missense_Mutation_p.D226H|SUV420H1_uc001onn.1_Missense_Mutation_p.D468H|SUV420H1_uc009ysf.2_Missense_Mutation_p.D400H	p.D640H	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2174	-			640					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1918G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488068	0.26686	.	.	ENSG00000110066	ENST00000304363	T	0.45276	0.9	4.89	-2.04	0.07343	.	0.886396	0.10200	N	0.703494	T	0.17450	0.0419	N	0.03608	-0.345	0.09310	N	1	B	0.31599	0.33	B	0.31869	0.137	T	0.17992	-1.0351	10	0.44086	T	0.13	-4.748	5.6206	0.17455	0.1469:0.2838:0.0:0.5693	.	640	Q4FZB7	SV421_HUMAN	H	640	ENSP00000305899:D640H	ENSP00000305899:D640H	D	-	1	0	SUV420H1	67682471	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.178000	0.16820	-0.626000	0.05596	0.491000	0.48974	GAC		PASS	0.507	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		9	34	9	34	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877481	82877481	+	Silent	SNP	G	G	T	rs542554229		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:82877481G>T	ENST00000298281.4	+	5	1994	c.1542G>T	c.(1540-1542)tcG>tcT	p.S514S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	514					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.S514S(1)|p.S613S(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTCCAACATCGACACCTAAAG	0.448																																						uc001ozx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1540-1542)TCG>TCT		pre-mRNA cleavage complex II protein Pcf11							128.0	121.0	123.0					11																	82877481		1963	4157	6120	SO:0001819	synonymous_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877481G>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1542G>T	11.37:g.82877481G>T						PCF11_uc010rsu.1_Silent_p.S514S	p.S514S	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	1887	+			514					A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	c.1542G>T	CCDS44689.1																																																																																				PASS	0.448	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		3	83	3	83	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119045219	119045219	+	Missense_Mutation	SNP	G	G	A	rs147720831	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:119045219G>A	ENST00000409109.1	+	6	1494	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	NLRX1_ENST00000409265.4_Missense_Mutation_p.V303M|NLRX1_ENST00000409991.1_Missense_Mutation_p.V303M|NLRX1_ENST00000525863.1_Missense_Mutation_p.V303M|NLRX1_ENST00000292199.2_Missense_Mutation_p.V303M	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	303	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.V303M(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGCAAGTACGTGGGCCGCTA	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19365	0.0		0.0	False		,,,				2504	0.0					uc001pvu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(907-909)GTG>ATG		NLR family member X1 isoform 1		G	MET/VAL,MET/VAL	6,4394	11.4+/-27.6	0,6,2194	143.0	144.0	144.0		907,907	6.1	1.0	11	dbSNP_134	144	0,8590		0,0,4295	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	21,21	0,6,6489	AA,AG,GG		0.0,0.1364,0.0462	probably-damaging,probably-damaging	303/976,303/922	119045219	6,12984	2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045219G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.907G>A	11.37:g.119045219G>A	ENSP00000387334:p.Val303Met					NLRX1_uc010rzc.1_Missense_Mutation_p.V125M|NLRX1_uc001pvv.2_Missense_Mutation_p.V303M|NLRX1_uc001pvw.2_Missense_Mutation_p.V303M|NLRX1_uc001pvx.2_Missense_Mutation_p.V303M	p.V303M	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1122	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	303			Required for interaction with MAVS.|NACHT.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.907G>A	CCDS8416.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.3	4.275143	0.80580	0.001364	0.0	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	D	0.86904	0.6045	M	0.77103	2.36	0.48511	D	0.999664	D;D	0.65815	0.995;0.984	P;P	0.56343	0.674;0.796	D	0.86721	0.1942	10	0.59425	D	0.04	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	303;303	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	M	303	ENSP00000386851:V303M;ENSP00000292199:V303M;ENSP00000386858:V303M;ENSP00000387334:V303M;ENSP00000433442:V303M	ENSP00000292199:V303M	V	+	1	0	NLRX1	118550429	1.000000	0.71417	0.970000	0.41538	0.921000	0.55340	7.528000	0.81941	2.884000	0.98904	0.655000	0.94253	GTG		PASS	0.567	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		56	228	56	228	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123893759	123893759	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:123893759G>A	ENST00000375024.1	+	1	40	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14S(1)|p.G14C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATCCTCACGGGCCTTCCCCA	0.562																																						uc010sad.1																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(40-42)GGC>AGC		olfactory receptor, family 10, subfamily G,							181.0	175.0	177.0					11																	123893759		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893759G>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.40G>A	11.37:g.123893759G>A	ENSP00000364164:p.Gly14Ser						p.G14S	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	40	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	14			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.40G>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056844	0.76074	.	.	ENSG00000236981	ENST00000375024	T	0.00653	5.96	3.33	3.33	0.38152	.	0.000000	0.49916	D	0.000126	T	0.04543	0.0124	M	0.91561	3.22	0.38008	D	0.93445	D	0.89917	1.0	D	0.97110	1.0	T	0.10941	-1.0608	10	0.87932	D	0	.	12.9502	0.58397	0.0:0.0:1.0:0.0	.	14	Q8NGN4	O10G9_HUMAN	S	14	ENSP00000364164:G14S	ENSP00000364164:G14S	G	+	1	0	OR10G9	123398969	1.000000	0.71417	0.232000	0.24009	0.080000	0.17528	5.455000	0.66658	1.854000	0.53819	0.655000	0.94253	GGC		PASS	0.562	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		10	287	10	287	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909669	123909669	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:123909669C>T	ENST00000330487.5	-	1	48	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGGGAAGGCCCGTGAGGATG	0.542																																						uc001pzq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(40-42)GGC>AGC		olfactory receptor, family 10, subfamily G,							100.0	91.0	94.0					11																	123909669		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909669C>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.40G>A	11.37:g.123909669C>T	ENSP00000329689:p.Gly14Ser						p.G14S	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	40	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	14			Extracellular (Potential).		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.40G>A	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658840	0.67586	.	.	ENSG00000182634	ENST00000330487	T	0.00653	5.96	3.27	3.27	0.37495	.	0.000000	0.49916	D	0.000126	T	0.04724	0.0128	M	0.92970	3.365	0.27277	N	0.958217	D	0.89917	1.0	D	0.97110	1.0	T	0.01810	-1.1269	10	0.87932	D	0	.	12.8375	0.57782	0.0:1.0:0.0:0.0	.	14	Q8NGN6	O10G7_HUMAN	S	14	ENSP00000329689:G14S	ENSP00000329689:G14S	G	-	1	0	OR10G7	123414879	0.961000	0.32948	0.334000	0.25495	0.046000	0.14306	4.002000	0.57053	1.828000	0.53243	0.557000	0.71058	GGC		PASS	0.542	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		13	163	13	163	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130332581	130332581	+	Missense_Mutation	SNP	G	G	A	rs189029139	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr11:130332581G>A	ENST00000299164.2	+	4	1448	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	483	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R483H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGCCAGACCCGCCACTTCCCC	0.622													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18828	0.0		0.001	False		,,,				2504	0.001					uc010scd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1447-1449)CGC>CAC		a disintegrin-like and metalloprotease							85.0	84.0	84.0					11																	130332581		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332581G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1448G>A	11.37:g.130332581G>A	ENSP00000299164:p.Arg483His						p.R483H	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1448	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	483			Disintegrin.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1448G>A	CCDS8488.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	35	5.463709	0.96257	.	.	ENSG00000166106	ENST00000299164	T	0.63580	-0.05	5.48	5.48	0.80851	.	.	.	.	.	T	0.78509	0.4294	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79992	-0.1569	9	0.87932	D	0	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	483	Q8TE58	ATS15_HUMAN	H	483	ENSP00000299164:R483H	ENSP00000299164:R483H	R	+	2	0	ADAMTS15	129837791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.566000	0.86566	0.655000	0.94253	CGC		PASS	0.622	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		12	88	12	88	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	993323	993323	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr12:993323C>T	ENST00000315939.6	+	18	4401	c.3758C>T	c.(3757-3759)tCt>tTt	p.S1253F	WNK1_ENST00000535572.1_Missense_Mutation_p.S1006F|WNK1_ENST00000530271.2_Missense_Mutation_p.S1751F|WNK1_ENST00000340908.4_Missense_Mutation_p.S846F|WNK1_ENST00000537687.1_Missense_Mutation_p.S1513F	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1253					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1253F(1)|p.S1513F(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTTGTTCATTCTGCGGGAAGG	0.363																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3757-3759)TCT>TTT		WNK lysine deficient protein kinase 1							119.0	122.0	121.0					12																	993323		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993323C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3758C>T	12.37:g.993323C>T	ENSP00000313059:p.Ser1253Phe					WNK1_uc001qip.3_Missense_Mutation_p.S1006F|WNK1_uc001qir.3_Missense_Mutation_p.S426F	p.S1253F	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		18	4265	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1253					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3758C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871780	0.72180	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.49864	0.1582	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.45542	-0.9254	10	0.87932	D	0	-17.339	20.3495	0.98807	0.0:1.0:0.0:0.0	.	1006;1006;1253	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	F	1006;1253;1513;426;1751;846;153	ENSP00000441972:S1006F;ENSP00000313059:S1253F;ENSP00000444465:S1513F;ENSP00000433548:S1751F;ENSP00000341292:S846F;ENSP00000446253:S153F	ENSP00000252477:S426F	S	+	2	0	WNK1	863584	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.257000	0.78362	2.814000	0.96858	0.591000	0.81541	TCT		PASS	0.363	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		19	141	19	141	---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7091877	7091877	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr12:7091877C>T	ENST00000261407.4	-	3	411	c.326G>A	c.(325-327)cGc>cAc	p.R109H	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	109					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.R109H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGTGATGGTGCGGCCCATTAG	0.517																																						uc001qsi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(325-327)CGC>CAC		lysophosphatidylcholine acyltransferase 3							172.0	141.0	151.0					12																	7091877		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7091877C>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.326G>A	12.37:g.7091877C>T	ENSP00000261407:p.Arg109His					EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.R3H|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Intron	p.R109H	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN			3	440	-			109					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.326G>A	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590153	0.86851	.	.	ENSG00000111684	ENST00000261407	T	0.74315	-0.83	5.29	5.29	0.74685	.	0.340546	0.34652	N	0.003795	T	0.79076	0.4385	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.72899	-0.4152	10	0.17832	T	0.49	-14.4143	19.1278	0.93393	0.0:1.0:0.0:0.0	.	109	Q6P1A2	MBOA5_HUMAN	H	109	ENSP00000261407:R109H	ENSP00000261407:R109H	R	-	2	0	LPCAT3	6962138	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.932000	0.63476	2.756000	0.94617	0.561000	0.74099	CGC		PASS	0.517	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		35	71	35	71	---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72266713	72266713	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr12:72266713C>T	ENST00000550746.1	+	3	198	c.134C>T	c.(133-135)gCc>gTc	p.A45V	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.A53V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.A45V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	45					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.A53V(1)|p.A45V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCTAGGATGCCGAAGTAATA	0.308																																						uc001swu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(199-201)GCC>GTC		TBC1 domain family, member 15 isoform 1							116.0	126.0	123.0					12																	72266713		2203	4299	6502	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72266713C>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.134C>T	12.37:g.72266713C>T	ENSP00000448182:p.Ala45Val					TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.A53V|TBC1D15_uc001swv.2_Missense_Mutation_p.A67V|TBC1D15_uc001sww.2_5'UTR	p.A67V	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			3	209	+			45					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.200C>T	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452778	0.43531	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.30448	1.53;1.53;1.53	5.28	4.36	0.52297	Domain of unknown function DUF3548 (1);	0.273348	0.35805	N	0.002969	T	0.25382	0.0617	L	0.40543	1.245	0.80722	D	1	P;P;B	0.40534	0.72;0.525;0.193	B;B;B	0.40864	0.342;0.231;0.055	T	0.02581	-1.1138	10	0.26408	T	0.33	-0.5037	9.871	0.41175	0.2649:0.6112:0.1239:0.0	.	53;45;45	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	V	45;53;45	ENSP00000448182:A45V;ENSP00000318262:A53V;ENSP00000420678:A45V	ENSP00000318262:A53V	A	+	2	0	TBC1D15	70552980	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.398000	0.34554	1.302000	0.44855	0.563000	0.77884	GCC		PASS	0.308	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		13	176	13	176	---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72266722	72266722	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr12:72266722T>A	ENST00000550746.1	+	3	207	c.143T>A	c.(142-144)aTa>aAa	p.I48K	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.I56K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.I48K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	48					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.I48K(1)|p.I56K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCGAAGTAATAGTGGACTGG	0.303																																						uc001swu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(208-210)ATA>AAA		TBC1 domain family, member 15 isoform 1							125.0	135.0	131.0					12																	72266722		2203	4299	6502	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72266722T>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.143T>A	12.37:g.72266722T>A	ENSP00000448182:p.Ile48Lys					TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.I56K|TBC1D15_uc001swv.2_Missense_Mutation_p.I70K|TBC1D15_uc001sww.2_5'UTR	p.I70K	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			3	218	+			48					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.209T>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.605577	0.66445	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.34275	1.37;1.37;1.37	5.28	5.28	0.74379	Domain of unknown function DUF3548 (1);	0.425465	0.25677	N	0.029035	T	0.47838	0.1467	L	0.50333	1.59	0.80722	D	1	P;P;D	0.54397	0.695;0.646;0.966	B;B;P	0.55303	0.392;0.271;0.773	T	0.41233	-0.9520	10	0.44086	T	0.13	-8.4725	15.5162	0.75826	0.0:0.0:0.0:1.0	.	56;48;48	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	48;56;48	ENSP00000448182:I48K;ENSP00000318262:I56K;ENSP00000420678:I48K	ENSP00000318262:I56K	I	+	2	0	TBC1D15	70552989	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.412000	0.52679	2.134000	0.65973	0.460000	0.39030	ATA		PASS	0.303	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		12	186	12	186	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88589318	88589319	+	Missense_Mutation	DNP	CG	CG	AA	rs199847201		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr12:88589318_88589319CG>AA	ENST00000266712.6	+	14	2857_2858	c.2637_2638CG>AA	c.(2635-2640)gaCGaa>gaAAaa	p.879_880DE>EK		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	880					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.D879_E880>EK(1)|p.E880K(1)|p.D879E(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAATGGAGACGAAGAGACACC	0.312																																						uc001tau.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	skin(1)	1						c.(2635-2637)GAC>GAA|c.(2638-2640)GAA>AAA		transmembrane and tetratricopeptide repeat																																				SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88589318C>A|g.chr12:88589319G>A		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	Exception_encountered	12.37:g.88589318_88589319delinsAA	ENSP00000266712:p.D879_E880delinsEK						p.D879E|p.E880K	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			14	2857|2858	+			880|881					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.2637C>A|c.2638G>A	CCDS9032.1																																																																																				PASS	0.312	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		31	52|49	31	49	---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107391697	107391697	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr12:107391697T>C	ENST00000008527.5	-	8	2152	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	429	Required for inhibition of CLOCK- ARNTL/BMAL1-mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.I429V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATTTACCTGATATAGTCTCCA	0.373																																						uc001tmi.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1285-1287)ATC>GTC		cryptochrome 1 (photolyase-like)							97.0	90.0	92.0					12																	107391697		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107391697T>C	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1285A>G	12.37:g.107391697T>C	ENSP00000008527:p.Ile429Val						p.I429V	NM_004075	NP_004066	Q16526	CRY1_HUMAN			8	2144	-			429			Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).|FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.1285A>G	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991588	0.54041	.	.	ENSG00000008405	ENST00000008527;ENST00000319645	.	.	.	5.88	5.88	0.94601	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	L	0.33137	0.985	0.80722	D	1	B	0.18863	0.031	B	0.22880	0.042	T	0.48747	-0.9008	9	0.37606	T	0.19	.	16.2898	0.82742	0.0:0.0:0.0:1.0	.	429	Q16526	CRY1_HUMAN	V	429;36	.	ENSP00000008527:I429V	I	-	1	0	CRY1	105915827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.163000	0.64948	2.250000	0.74265	0.482000	0.46254	ATC		PASS	0.373	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		7	68	7	68	---	---	---	---
MAB21L1	4081	broad.mit.edu	37	13	36050132	36050132	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr13:36050132C>A	ENST00000379919.4	-	1	700	c.144G>T	c.(142-144)caG>caT	p.Q48H	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	48					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.Q48H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACCGCGGCTCCTGCACTTCCA	0.512																																						uc001uvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(142-144)CAG>CAT		mab-21-like protein 1							106.0	104.0	105.0					13																	36050132		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050132C>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.144G>T	13.37:g.36050132C>A	ENSP00000369251:p.Gln48His					NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.Q48H	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	701	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	48					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.144G>T	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945009	0.73672	.	.	ENSG00000180660	ENST00000379919	T	0.19394	2.15	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.46693	-0.9173	10	0.52906	T	0.07	.	19.7375	0.96212	0.0:1.0:0.0:0.0	.	48	Q13394	MB211_HUMAN	H	48	ENSP00000369251:Q48H	ENSP00000369251:Q48H	Q	-	3	2	MAB21L1	34948132	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.066000	0.71185	2.680000	0.91292	0.655000	0.94253	CAG		PASS	0.512	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		41	96	41	96	---	---	---	---
SUPT20H	55578	broad.mit.edu	37	13	37605726	37605726	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr13:37605726A>T	ENST00000350612.6	-	12	1119	c.899T>A	c.(898-900)tTg>tAg	p.L300*	SUPT20H_ENST00000464744.1_Nonsense_Mutation_p.L301*|SUPT20H_ENST00000360252.4_Nonsense_Mutation_p.L301*|SUPT20H_ENST00000356185.3_Nonsense_Mutation_p.L301*|SUPT20H_ENST00000475892.1_Nonsense_Mutation_p.L300*|SUPT20H_ENST00000542180.1_Nonsense_Mutation_p.L288*	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	300					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.L300*(1)									AGGTATGGCCAAATTACAGGG	0.279																																						uc001uwg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(898-900)TTG>TAG		family with sequence similarity 48, member A							48.0	52.0	51.0					13																	37605726		2203	4290	6493	SO:0001587	stop_gained	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37605726A>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.899T>A	13.37:g.37605726A>T	ENSP00000218894:p.Leu300*					FAM48A_uc010abt.2_Nonsense_Mutation_p.L301*|FAM48A_uc001uwh.2_Nonsense_Mutation_p.L301*|FAM48A_uc001uwi.2_Nonsense_Mutation_p.L300*|FAM48A_uc001uwj.2_Nonsense_Mutation_p.L301*|FAM48A_uc001uwk.2_Nonsense_Mutation_p.L300*|FAM48A_uc010tes.1_Nonsense_Mutation_p.L288*|FAM48A_uc001uwl.1_Nonsense_Mutation_p.L300*	p.L300*	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	12	1147	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	300					E7ER46|Q71RF3|Q9Y6A6	Nonsense_Mutation	SNP	ENST00000350612.6	37	c.899T>A	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	A	40	8.119185	0.98662	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6948	16.4075	0.83691	1.0:0.0:0.0:0.0	.	.	.	.	X	301;300;300;301;300;301;288	.	ENSP00000218894:L300X	L	-	2	0	FAM48A	36503726	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.480000	0.90434	2.275000	0.75901	0.528000	0.53228	TTG		PASS	0.279	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		22	48	22	48	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53420719	53420719	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr13:53420719G>T	ENST00000377942.3	-	1	2056	c.1853C>A	c.(1852-1854)tCc>tAc	p.S618Y	PCDH8_ENST00000338862.4_Missense_Mutation_p.S618Y	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S618Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CACTTCTAGGGAGCCATTGGC	0.682																																					GBM(36;25 841 9273 49207)	uc001vhi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1852-1854)TCC>TAC		protocadherin 8 isoform 1 precursor							10.0	12.0	12.0					13																	53420719		2109	4136	6245	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420719G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1853C>A	13.37:g.53420719G>T	ENSP00000367177:p.Ser618Tyr					PCDH8_uc001vhj.2_Missense_Mutation_p.S618Y	p.S618Y	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2056	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	618			Extracellular (Potential).|Cadherin 6.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1853C>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823680	0.71143	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.21361	2.01;2.01	4.01	4.01	0.46588	Cadherin (2);Cadherin-like (1);	0.346268	0.21121	N	0.079820	T	0.51500	0.1678	M	0.86028	2.79	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.62163	-0.6912	10	0.87932	D	0	.	16.3142	0.82909	0.0:0.0:1.0:0.0	.	618;618	O95206-2;O95206	.;PCDH8_HUMAN	Y	618;618;144;461	ENSP00000367177:S618Y;ENSP00000341350:S618Y	ENSP00000341350:S618Y	S	-	2	0	PCDH8	52318720	1.000000	0.71417	0.983000	0.44433	0.966000	0.64601	9.335000	0.96500	2.069000	0.61940	0.511000	0.50034	TCC		PASS	0.682	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		3	4	3	4	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45715975	45715975	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr14:45715975G>A	ENST00000310806.4	-	2	973	c.515C>T	c.(514-516)tCa>tTa	p.S172L		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	172					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S172L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGACTGGAATGATTTGTTGTT	0.338																																						uc001wwf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)TCA>TTA		chromosome 14 open reading frame 106							226.0	195.0	206.0					14																	45715975		2202	4300	6502	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45715975G>A	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.515C>T	14.37:g.45715975G>A	ENSP00000309790:p.Ser172Leu					C14orf106_uc010anh.2_RNA	p.S172L	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			2	974	-			172					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.515C>T	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	8.065	0.768892	0.15983	.	.	ENSG00000129534	ENST00000310806	T	0.20332	2.08	5.35	2.5	0.30297	.	0.742704	0.12034	N	0.505661	T	0.14960	0.0361	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31392	-0.9945	10	0.18276	T	0.48	-2.1166	8.1393	0.31073	0.2697:0.0:0.7303:0.0	.	172	Q6P0N0	M18BP_HUMAN	L	172	ENSP00000309790:S172L	ENSP00000309790:S172L	S	-	2	0	MIS18BP1	44785725	0.001000	0.12720	0.051000	0.19133	0.402000	0.30811	0.835000	0.27531	0.748000	0.32831	-0.137000	0.14449	TCA		PASS	0.338	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			16	134	16	134	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52485899	52485899	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr14:52485899G>T	ENST00000216286.5	-	14	2907	c.2908C>A	c.(2908-2910)Ctg>Atg	p.L970M	NID2_ENST00000541773.1_Missense_Mutation_p.L869M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	970	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.L970M(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGTAGGGGCAGGAAGTTGCCC	0.627																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(2908-2910)CTG>ATG		nidogen 2 precursor							67.0	53.0	57.0					14																	52485899		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52485899G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2908C>A	14.37:g.52485899G>T	ENSP00000216286:p.Leu970Met					NID2_uc010tqs.1_Missense_Mutation_p.L922M|NID2_uc010tqt.1_Missense_Mutation_p.L970M|NID2_uc001wzp.2_Missense_Mutation_p.L970M	p.L970M	NM_007361	NP_031387	Q14112	NID2_HUMAN			14	3142	-	Breast(41;0.0639)|all_epithelial(31;0.123)		970			Thyroglobulin type-1 1.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2908C>A	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.943984|2.943984	0.53079|0.53079	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	T;T|.	0.63417|.	-0.04;-0.04|.	5.1|5.1	2.08|2.08	0.27032|0.27032	Thyroglobulin type-1 (6);|.	1.242720|.	0.05116|.	N|.	0.489829|.	T|T	0.38878|0.38878	0.1057|0.1057	L|L	0.39467|0.39467	1.215|1.215	0.23962|0.23962	N|N	0.996332|0.996332	P;P;P;P|.	0.49559|.	0.851;0.925;0.916;0.755|.	P;P;P;P|.	0.53954|.	0.738;0.487;0.681;0.657|.	T|T	0.24621|0.24621	-1.0155|-1.0155	10|5	0.46703|.	T|.	0.11|.	.|.	11.4878|11.4878	0.50363|0.50363	0.0:0.3949:0.4762:0.1289|0.0:0.3949:0.4762:0.1289	.|.	564;869;972;970|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	M|H	970;564;869;972|238	ENSP00000216286:L970M;ENSP00000443730:L869M|.	ENSP00000216286:L970M|.	L|P	-|-	1|2	2|0	NID2|NID2	51555649|51555649	0.512000|0.512000	0.26186|0.26186	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	0.196000|0.196000	0.17176|0.17176	0.319000|0.319000	0.23209|0.23209	0.655000|0.655000	0.94253|0.94253	CTG|CCT		PASS	0.627	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			10	38	10	38	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89154734	89154734	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr14:89154734C>T	ENST00000380664.5	-	18	2622	c.2623G>A	c.(2623-2625)Gaa>Aaa	p.E875K	EML5_ENST00000352093.5_Intron|EML5_ENST00000554922.1_Missense_Mutation_p.E875K			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	875						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.E875K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCATCTCTTCAGTCCATCCA	0.433																																						uc001xxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2623-2625)GAA>AAA		echinoderm microtubule associated protein like							278.0	271.0	274.0					14																	89154734		1966	4161	6127	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89154734C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2623G>A	14.37:g.89154734C>T	ENSP00000370039:p.Glu875Lys					EML5_uc001xxh.1_Intron	p.E875K	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			19	2809	-			875			WD 14.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2623G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078942	0.94050	.	.	ENSG00000165521	ENST00000554922;ENST00000380664	T;T	0.29917	1.55;2.79	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.73962	2.25	0.80722	D	1	D	0.54964	0.969	P	0.54856	0.762	T	0.49204	-0.8964	10	0.42905	T	0.14	-28.65	18.3062	0.90182	0.0:1.0:0.0:0.0	.	875	Q05BV3	EMAL5_HUMAN	K	875	ENSP00000451998:E875K;ENSP00000370039:E875K	ENSP00000370039:E875K	E	-	1	0	EML5	88224487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.622000	0.67750	2.636000	0.89361	0.655000	0.94253	GAA		PASS	0.433	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			36	281	36	281	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22383152	22383152	+	Missense_Mutation	SNP	G	G	T	rs573022295	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:22383152G>T	ENST00000328795.4	+	1	771	c.680G>T	c.(679-681)aGg>aTg	p.R227M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227M(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		CATGTTCGTAGGGCAGCTTCT	0.493																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(679-681)AGG>ATG		olfactory receptor, family 4, subfamily N,							185.0	153.0	164.0					15																	22383152		2190	4261	6451	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383152G>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.680G>T	15.37:g.22383152G>T	ENSP00000332500:p.Arg227Met					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R227M	p.R227M	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_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)	7	1661	+		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)	227			Cytoplasmic (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.680G>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.442	-0.328380	0.05314	.	.	ENSG00000183706	ENST00000328795	T	0.00265	8.39	3.37	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.399653	0.21430	N	0.074679	T	0.00356	0.0011	H	0.94886	3.595	0.09310	N	1	B	0.20368	0.044	B	0.25987	0.065	T	0.34129	-0.9841	10	0.72032	D	0.01	-1.0899	8.397	0.32564	0.1227:0.0:0.8773:0.0	.	227	Q8N0Y3	OR4N4_HUMAN	M	227	ENSP00000332500:R227M	ENSP00000332500:R227M	R	+	2	0	OR4N4	19884516	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.369000	0.07533	0.739000	0.32628	0.404000	0.27445	AGG		PASS	0.493	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			28	37	28	37	---	---	---	---
SCG5	6447	broad.mit.edu	37	15	32972055	32972055	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:32972055G>T	ENST00000300175.4	+	3	425	c.315G>T	c.(313-315)aaG>aaT	p.K105N	SCG5_ENST00000497208.1_Missense_Mutation_p.K105N|SCG5_ENST00000494364.1_Missense_Mutation_p.K105N|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000413748.2_Missense_Mutation_p.K105N	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	105					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)	p.K105N(1)		lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		ACATTCCTAAGGACTTTAGTG	0.498																																						uc001zha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)AAG>AAT		secretogranin V isoform 1							163.0	163.0	163.0					15																	32972055		1914	4117	6031	SO:0001583	missense	6447				intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding	g.chr15:32972055G>T	Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.315G>T	15.37:g.32972055G>T	ENSP00000300175:p.Lys105Asn					SCG5_uc001zgz.2_Missense_Mutation_p.K105N	p.K105N	NM_001144757	NP_001138229	P05408	7B2_HUMAN		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)	3	432	+		all_lung(180;7.32e-08)	105					P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	ENST00000300175.4	37	c.315G>T	CCDS45207.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430583	0.43122	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000494364;ENST00000497208;ENST00000471027	.	.	.	5.71	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77574	-0.2537	9	0.62326	D	0.03	.	10.6499	0.45642	0.2051:0.0:0.7949:0.0	.	105;105	P05408;Q6FHD0	7B2_HUMAN;.	N	105;105;105;105;95	.	ENSP00000300175:K105N	K	+	3	2	SCG5	30759347	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	2.529000	0.45632	0.791000	0.33826	-0.157000	0.13467	AAG		PASS	0.498	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355438.1	NM_003020		21	220	21	220	---	---	---	---
SLC27A2	11001	broad.mit.edu	37	15	50489802	50489802	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:50489802T>C	ENST00000267842.5	+	2	816	c.584T>C	c.(583-585)cTg>cCg	p.L195P	SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Missense_Mutation_p.L195P	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	195					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.L195P(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GACTCTTTCCTGGACAAAGTG	0.423																																						uc001zxw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(583-585)CTG>CCG		solute carrier family 27 (fatty acid							108.0	100.0	103.0					15																	50489802		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50489802T>C	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.584T>C	15.37:g.50489802T>C	ENSP00000267842:p.Leu195Pro					SLC27A2_uc010bes.2_Missense_Mutation_p.L195P|SLC27A2_uc001zxx.2_5'UTR	p.L195P	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	2	816	+		all_lung(180;0.00177)	195			Lumenal (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.584T>C	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	T	9.590	1.125960	0.20959	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.52526	0.66;0.66	5.53	4.38	0.52667	AMP-dependent synthetase/ligase (1);	0.482903	0.20622	N	0.088779	T	0.57373	0.2049	M	0.80028	2.48	0.38688	D	0.95269	B;P	0.45531	0.075;0.86	B;P	0.50162	0.098;0.633	T	0.58781	-0.7576	10	0.30078	T	0.28	.	9.9658	0.41723	0.1521:0.0:0.0:0.8479	.	195;195	Q6PF09;O14975	.;S27A2_HUMAN	P	195	ENSP00000370289:L195P;ENSP00000267842:L195P	ENSP00000267842:L195P	L	+	2	0	SLC27A2	48277094	0.148000	0.22702	0.111000	0.21465	0.256000	0.26092	3.172000	0.50832	0.892000	0.36259	0.533000	0.62120	CTG		PASS	0.423	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		13	96	13	96	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081625	53081625	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:53081625G>A	ENST00000305901.5	-	1	584	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	153					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R153W(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CGCTCATCCCGCATGAGCGTG	0.657																																						uc002aci.1																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CGG>TGG		one cut homeobox 1							51.0	58.0	55.0					15																	53081625		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081625G>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.457C>T	15.37:g.53081625G>A	ENSP00000302630:p.Arg153Trp						p.R153W	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	585	-			153					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.457C>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982366	0.53827	.	.	ENSG00000169856	ENST00000305901	T	0.55413	0.52	4.29	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.73668	-0.3910	10	0.87932	D	0	-17.2445	10.9935	0.47563	0.0:0.0:0.668:0.332	.	153	Q9UBC0	HNF6_HUMAN	W	153	ENSP00000302630:R153W	ENSP00000302630:R153W	R	-	1	2	ONECUT1	50868917	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.370000	0.34238	0.994000	0.38892	-0.627000	0.03993	CGG		PASS	0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			4	90	4	90	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305472	54305472	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:54305472G>A	ENST00000260323.11	+	1	372	c.372G>A	c.(370-372)gaG>gaA	p.E124E	UNC13C_ENST00000545554.1_Silent_p.E124E|UNC13C_ENST00000537900.1_Silent_p.E124E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	124					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E124E(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTCAATCGAGAGTTCCTACT	0.408																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(370-372)GAG>GAA		unc-13 homolog C							51.0	49.0	50.0					15																	54305472		1930	4150	6080	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305472G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.372G>A	15.37:g.54305472G>A							p.E124E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	372	+			124			Potential.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.372G>A	CCDS45264.1																																																																																				PASS	0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	30	11	30	---	---	---	---
BCL2A1	597	broad.mit.edu	37	15	80263061	80263061	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:80263061A>C	ENST00000267953.3	-	1	727	c.401T>G	c.(400-402)aTa>aGa	p.I134R	BCL2A1_ENST00000335661.6_Missense_Mutation_p.I134R	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	134					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I134R(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GTTTTGCCTTATCCATTCTCC	0.373																																						uc002bfc.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(400-402)ATA>AGA		BCL2-related protein A1 isoform 1							113.0	119.0	117.0					15																	80263061		2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263061A>C		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.401T>G	15.37:g.80263061A>C	ENSP00000267953:p.Ile134Arg					BCL2A1_uc002bfd.3_Missense_Mutation_p.I134R	p.I134R	NM_004049	NP_004040	Q16548	B2LA1_HUMAN			1	583	-			134			BH2.		Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.401T>G	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447745	0.43429	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.39406	1.08;1.08	5.48	5.48	0.80851	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);Apoptosis regulator, Bcl-2, BH2 motif, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.71239	0.3316	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78692	-0.2105	10	0.87932	D	0	-20.0004	14.177	0.65549	1.0:0.0:0.0:0.0	.	134;134	Q86W13;Q16548	.;B2LA1_HUMAN	R	134	ENSP00000267953:I134R;ENSP00000335250:I134R	ENSP00000267953:I134R	I	-	2	0	BCL2A1	78050116	0.999000	0.42202	0.911000	0.35937	0.117000	0.20001	3.412000	0.52679	2.081000	0.62600	0.533000	0.62120	ATA		PASS	0.373	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		13	201	13	201	---	---	---	---
KLHL25	64410	broad.mit.edu	37	15	86312069	86312069	+	Missense_Mutation	SNP	C	C	A	rs139382084		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:86312069C>A	ENST00000337975.5	-	2	1247	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.D325Y|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	325					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.D325Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGGGCAGGTCGGCCTTGGGG	0.632																																						uc002bly.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(973-975)GAC>TAC		BTB/POZ KELCH domain protein							62.0	47.0	52.0					15																	86312069		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312069C>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.973G>T	15.37:g.86312069C>A	ENSP00000336800:p.Asp325Tyr						p.D325Y	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN			2	1176	-			325			Kelch 1.		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.973G>T	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610085	0.46527	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.68331	-0.32;-0.32	5.39	4.46	0.54185	Kelch-type beta propeller (1);	0.108703	0.64402	D	0.000013	T	0.71476	0.3344	M	0.62723	1.935	0.54753	D	0.999982	P	0.43885	0.82	P	0.49085	0.6	T	0.74748	-0.3560	10	0.72032	D	0.01	.	13.4807	0.61334	0.0:0.9235:0.0:0.0765	.	325	Q9H0H3	ENC2_HUMAN	Y	325;294;325	ENSP00000336800:D325Y;ENSP00000444739:D325Y	ENSP00000336800:D325Y	D	-	1	0	KLHL25	84113073	1.000000	0.71417	0.853000	0.33588	0.803000	0.45373	4.866000	0.63005	1.258000	0.44101	0.462000	0.41574	GAC		PASS	0.632	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		17	33	17	33	---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358392	102358392	+	Start_Codon_SNP	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr15:102358392G>C	ENST00000332238.4	+	1	27	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTGAGGCAATGAATGGAATGA	0.368																																						uc010uts.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATC		olfactory receptor, family 4, subfamily F,							161.0	144.0	149.0					15																	102358392		2203	4300	6503	SO:0001582	initiator_codon_variant	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358392G>C	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.3G>C	15.37:g.102358392G>C	ENSP00000333184:p.Met1Ile						p.M1I	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	3	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		1			Extracellular (Potential).		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.3G>C	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	17.75	3.466033	0.63625	.	.	ENSG00000182854	ENST00000332238	T	0.01369	4.97	5.29	4.38	0.52667	.	0.095238	0.46442	D	0.000293	T	0.05868	0.0153	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24693	-1.0153	8	.	.	.	.	7.8386	0.29384	0.1808:0.0:0.8192:0.0	.	1	Q8NGB8	O4F15_HUMAN	I	1	ENSP00000333184:M1I	.	M	+	3	0	OR4F15	100175915	0.001000	0.12720	0.023000	0.16930	0.482000	0.33219	0.674000	0.25218	1.465000	0.48006	0.555000	0.69702	ATG		PASS	0.368	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674	Missense_Mutation	14	164	14	164	---	---	---	---
MAPK8IP3	23162	broad.mit.edu	37	16	1810516	1810517	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:1810516_1810517GG>TT	ENST00000250894.4	+	12	1594_1595	c.1437_1438GG>TT	c.(1435-1440)ctGGaa>ctTTaa	p.E480*	MAPK8IP3_ENST00000356010.5_Nonsense_Mutation_p.E474*	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	480					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.E480*(2)|p.L479L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCAAGGAGCTGGAAGAGGAACT	0.614																																						uc002cmk.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	breast(2)|central_nervous_system(1)	3						c.(1435-1437)CTG>CTT|c.(1438-1440)GAA>TAA		mitogen-activated protein kinase 8 interacting																																				SO:0001587	stop_gained	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1810516G>T|g.chr16:1810517G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	Exception_encountered	16.37:g.1810516_1810517delinsTT	ENSP00000250894:p.Glu480*					MAPK8IP3_uc002cml.2_Silent_p.L473L|MAPK8IP3_uc010uvl.1_Silent_p.L480L|MAPK8IP3_uc002cml.2_Nonsense_Mutation_p.E474*|MAPK8IP3_uc010uvl.1_Nonsense_Mutation_p.E481*	p.L479L|p.E480*	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			12	1557|1558	+			479|480			Potential.		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent|Nonsense_Mutation	SNP	ENST00000250894.4	37	c.1437G>T|c.1438G>T	CCDS10442.2																																																																																				PASS	0.614	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	108|107	6	107	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19451611	19451611	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:19451611C>T	ENST00000396229.2	+	3	1000	c.251C>T	c.(250-252)tCt>tTt	p.S84F	TMC5_ENST00000381414.4_Missense_Mutation_p.S84F|TMC5_ENST00000542583.2_Missense_Mutation_p.S84F|TMC5_ENST00000541464.1_Missense_Mutation_p.S84F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	84					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S84F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGACTATTCTGGCACCAGA	0.478																																						uc002dgc.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(250-252)TCT>TTT		transmembrane channel-like 5 isoform a							119.0	119.0	119.0					16																	19451611		1926	4125	6051	SO:0001583	missense	79838					integral to membrane		g.chr16:19451611C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.251C>T	16.37:g.19451611C>T	ENSP00000379531:p.Ser84Phe					TMC5_uc010vaq.1_Missense_Mutation_p.S84F|TMC5_uc002dgb.3_Missense_Mutation_p.S84F|TMC5_uc010var.1_Missense_Mutation_p.S84F	p.S84F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			3	1000	+			84			Extracellular (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.251C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440060	0.43326	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.69435	-0.31;-0.19;-0.4;-0.4	4.44	1.32	0.21799	.	2586.740000	0.00166	N	0.000000	T	0.65260	0.2674	L	0.36672	1.1	0.09310	N	1	P;P;D	0.56035	0.944;0.906;0.974	P;P;P	0.51135	0.66;0.459;0.66	T	0.49624	-0.8920	10	0.66056	D	0.02	0.3011	3.4228	0.07400	0.2107:0.5701:0.0:0.2192	.	84;84;84	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	F	84	ENSP00000441227:S84F;ENSP00000370822:S84F;ENSP00000379531:S84F;ENSP00000446274:S84F	ENSP00000370822:S84F	S	+	2	0	TMC5	19359112	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.470000	0.06639	0.112000	0.17975	0.591000	0.81541	TCT		PASS	0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		27	120	27	120	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19711758	19711758	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:19711758C>T	ENST00000251143.5	+	31	2864	c.2852C>T	c.(2851-2853)aCg>aTg	p.T951M	C16orf62_ENST00000542263.1_Missense_Mutation_p.T947M|C16orf62_ENST00000543152.1_Missense_Mutation_p.T700M|C16orf62_ENST00000448695.1_Missense_Mutation_p.T801M|C16orf62_ENST00000417362.2_Missense_Mutation_p.T858M|C16orf62_ENST00000438132.3_Missense_Mutation_p.T1040M			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	951						integral component of membrane (GO:0016021)		p.T1040M(1)|p.T951M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACTCATCTGACGGAGCTGGCC	0.502																																						uc002dgn.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2851-2853)ACG>ATG		hypothetical protein LOC57020							95.0	94.0	95.0					16																	19711758		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19711758C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2852C>T	16.37:g.19711758C>T	ENSP00000251143:p.Thr951Met					C16orf62_uc002dgo.1_Missense_Mutation_p.T858M|C16orf62_uc002dgp.1_Missense_Mutation_p.T700M	p.T951M	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			31	2864	+			951					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2852C>T		.	.	.	.	.	.	.	.	.	.	C	10.59	1.392711	0.25118	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.34472	1.75;1.75;1.82;1.81;1.36	5.38	1.14	0.20703	.	0.378995	0.30252	N	0.010052	T	0.24353	0.0590	L	0.36672	1.1	0.18873	N	0.999988	B;B	0.16603	0.009;0.018	B;B	0.11329	0.006;0.005	T	0.18999	-1.0319	9	.	.	.	-4.994	9.2579	0.37595	0.0:0.5513:0.3537:0.095	.	947;951	F5H7K1;Q7Z3J2	.;CP062_HUMAN	M	1040;947;951;858;801	ENSP00000400815:T1040M;ENSP00000442468:T947M;ENSP00000251143:T951M;ENSP00000395973:T858M;ENSP00000398009:T801M	.	T	+	2	0	C16orf62	19619259	0.044000	0.20184	0.079000	0.20413	0.751000	0.42716	1.290000	0.33319	-0.005000	0.14395	-0.305000	0.09177	ACG		PASS	0.502	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		22	61	22	61	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30994981	30994981	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:30994981G>A	ENST00000262519.8	+	18	5524	c.4838G>A	c.(4837-4839)cGc>cAc	p.R1613H	HSD3B7_ENST00000262520.6_5'Flank|HSD3B7_ENST00000353250.5_5'Flank|HSD3B7_ENST00000297679.5_5'Flank	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1613	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R1613H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGGGAGAAGCGCTACGTGCAG	0.622																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4837-4839)CGC>CAC		SET domain containing 1A							82.0	65.0	70.0					16																	30994981		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30994981G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4838G>A	16.37:g.30994981G>A	ENSP00000262519:p.Arg1613His					HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank	p.R1613H	NM_014712	NP_055527	O15047	SET1A_HUMAN			18	5524	+			1613			SET.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4838G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205840	0.58234	.	.	ENSG00000099381	ENST00000262519	T	0.80393	-1.37	4.76	4.76	0.60689	SET domain (3);	0.000000	0.64402	D	0.000001	D	0.87350	0.6155	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88067	0.2798	10	0.59425	D	0.04	.	16.6933	0.85327	0.0:0.0:1.0:0.0	.	1613	O15047	SET1A_HUMAN	H	1613	ENSP00000262519:R1613H	ENSP00000262519:R1613H	R	+	2	0	SETD1A	30902482	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.625000	0.98406	2.479000	0.83701	0.557000	0.71058	CGC		PASS	0.622	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	16	7	16	---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50709793	50709793	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:50709793G>T	ENST00000330943.4	-	3	341	c.170C>A	c.(169-171)aCg>aAg	p.T57K	SNX20_ENST00000300590.3_Missense_Mutation_p.T57K|SNX20_ENST00000423026.2_Missense_Mutation_p.T57K	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	57					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.T57K(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AAGCTCCCGCGTGGTCATGCT	0.552																																						uc002egk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(169-171)ACG>AAG		sorting nexin 20 isoform 1							103.0	91.0	95.0					16																	50709793		2198	4300	6498	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50709793G>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.170C>A	16.37:g.50709793G>T	ENSP00000332062:p.Thr57Lys					SNX20_uc010vgp.1_Missense_Mutation_p.T57K|SNX20_uc002egi.3_Missense_Mutation_p.T57K	p.T57K	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN			3	343	-			57					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.170C>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506156	0.85282	.	.	ENSG00000167208	ENST00000300590;ENST00000423026;ENST00000330943;ENST00000413750	T;T;T	0.64991	-0.13;-0.09;0.82	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74512	-0.3641	10	0.87932	D	0	-25.7743	17.9269	0.88986	0.0:0.0:1.0:0.0	.	57;57;57	Q7Z614-3;Q7Z614;Q7Z614-4	.;SNX20_HUMAN;.	K	57	ENSP00000300590:T57K;ENSP00000388875:T57K;ENSP00000332062:T57K	ENSP00000300590:T57K	T	-	2	0	SNX20	49267294	1.000000	0.71417	0.961000	0.40146	0.596000	0.36781	8.571000	0.90752	2.660000	0.90430	0.462000	0.41574	ACG		PASS	0.552	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		38	87	38	87	---	---	---	---
GOT2	2806	broad.mit.edu	37	16	58750585	58750585	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:58750585T>C	ENST00000245206.5	-	7	963	c.835A>G	c.(835-837)Aag>Gag	p.K279E	GOT2_ENST00000434819.2_Missense_Mutation_p.K236E|GOT2_ENST00000564400.1_Intron	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	279					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.K279E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	CCCATGTTCTTGGCATATGAT	0.512																																						uc002eof.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(835-837)AAG>GAG		aspartate aminotransferase 2 precursor	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						67.0	56.0	60.0					16																	58750585		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58750585T>C		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.835A>G	16.37:g.58750585T>C	ENSP00000245206:p.Lys279Glu					GOT2_uc010vim.1_Missense_Mutation_p.K236E	p.K279E	NM_002080	NP_002071	P00505	AATM_HUMAN			7	949	-			279					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.835A>G	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951089	0.92660	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.91740	-2.9;-2.9	5.54	5.54	0.83059	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.97390	3.995	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.72625	0.954;0.978	D	0.98853	1.0759	9	.	.	.	-21.1668	15.158	0.72759	0.0:0.0:0.0:1.0	.	236;279	E7ERW2;P00505	.;AATM_HUMAN	E	279;236	ENSP00000245206:K279E;ENSP00000394100:K236E	.	K	-	1	0	GOT2	57308086	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.796000	0.85898	2.243000	0.73865	0.482000	0.46254	AAG		PASS	0.512	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			25	52	25	52	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021501	68021501	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:68021501G>C	ENST00000572888.1	-	10	2019	c.1369C>G	c.(1369-1371)Cca>Gca	p.P457A	DPEP2_ENST00000412757.2_Missense_Mutation_p.P457A|DPEP2_ENST00000393847.1_Missense_Mutation_p.P457A			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	457					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.P457A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACTTGGCTGGTAACTTGGCT	0.567																																						uc010cey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1369-1371)CCA>GCA		dipeptidase 2 precursor							121.0	112.0	115.0					16																	68021501		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021501G>C	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1369C>G	16.37:g.68021501G>C	ENSP00000458977:p.Pro457Ala					DPEP2_uc002evd.3_Missense_Mutation_p.P462A|DPEP2_uc002eve.2_Missense_Mutation_p.P457A|DPEP2_uc002evf.2_RNA	p.P457A	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	10	1533	-		Ovarian(137;0.192)	457					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.1369C>G	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908703	0.17833	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.16897	2.31;2.31	4.4	-2.9	0.05648	.	0.926305	0.08969	N	0.867560	T	0.13415	0.0325	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32188	-0.9916	10	0.54805	T	0.06	-0.0601	10.6989	0.45915	0.4305:0.0:0.5695:0.0	.	457;370	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	A	457;457;370	ENSP00000377430:P457A;ENSP00000412549:P457A	ENSP00000314702:P370A	P	-	1	0	DPEP2	66579002	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.181000	0.09740	-0.652000	0.05408	-1.477000	0.00996	CCA		PASS	0.567	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		71	153	71	153	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77396100	77396100	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr16:77396100G>T	ENST00000282849.5	-	7	1536	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S373Y(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AATGAGGGCAGACTGCCATTG	0.403																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1117-1119)TCT>TAT		ADAM metallopeptidase with thrombospondin type 1							132.0	112.0	119.0					16																	77396100		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77396100G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1118C>A	16.37:g.77396100G>T	ENSP00000282849:p.Ser373Tyr					ADAMTS18_uc010chc.1_Translation_Start_Site|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S69Y|ADAMTS18_uc010vni.1_Intron	p.S373Y	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			7	1537	-			373			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1118C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748651	0.89753	.	.	ENSG00000140873	ENST00000282849	T	0.64260	-0.09	5.26	5.26	0.73747	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	L	0.35644	1.08	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.74150	-0.3758	10	0.66056	D	0.02	.	18.0516	0.89351	0.0:0.0:1.0:0.0	.	373	Q8TE60	ATS18_HUMAN	Y	373	ENSP00000282849:S373Y	ENSP00000282849:S373Y	S	-	2	0	ADAMTS18	75953601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.595000	0.98260	2.733000	0.93635	0.655000	0.94253	TCT		PASS	0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			33	42	33	42	---	---	---	---
SERPINF2	5345	broad.mit.edu	37	17	1650356	1650356	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:1650356C>A	ENST00000324015.3	+	6	488	c.411C>A	c.(409-411)caC>caA	p.H137Q	SERPINF2_ENST00000382061.4_Missense_Mutation_p.H137Q|SERPINF2_ENST00000450523.2_Missense_Mutation_p.H73Q	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	137					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H137Q(1)		breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	AGGTGCTGCACGCAGGCTCAG	0.682																																						uc002ftk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)CAC>CAA		alpha-2-antiplasmin isoform a precursor	Streptokinase(DB00086)						16.0	18.0	17.0					17																	1650356		2198	4278	6476	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1650356C>A	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.411C>A	17.37:g.1650356C>A	ENSP00000321853:p.His137Gln					SERPINF2_uc010vqr.1_Missense_Mutation_p.H73Q	p.H137Q	NM_000934	NP_000925	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	488	+			137					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.411C>A	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902680	0.33628	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000382061	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.36	-10.7	0.00240	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86155	0.5865	M	0.67953	2.075	0.28745	N	0.901778	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88888	0.3344	10	0.44086	T	0.13	.	17.0337	0.86468	0.0752:0.6709:0.0:0.2539	.	73;137	B4E1B7;P08697	.;A2AP_HUMAN	Q	137;137;73;73;137	ENSP00000402286:H137Q;ENSP00000321853:H137Q;ENSP00000403877:H73Q;ENSP00000371493:H137Q	ENSP00000321853:H137Q	H	+	3	2	SERPINF2	1597106	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.658000	0.00852	-2.834000	0.00338	-1.069000	0.02264	CAC		PASS	0.682	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		8	21	8	21	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4720515	4720515	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:4720515C>T	ENST00000263088.6	+	17	1907	c.1776C>T	c.(1774-1776)ctC>ctT	p.L592L	PLD2_ENST00000572940.1_Silent_p.L592L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	592	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.L592L(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCAATCAGCTCCCCTTCACAC	0.602																																						uc002fzc.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(1774-1776)CTC>CTT		phospholipase D2	Choline(DB00122)						242.0	207.0	218.0					17																	4720515		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4720515C>T	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1776C>T	17.37:g.4720515C>T						PLD2_uc010vsj.1_Silent_p.L449L|PLD2_uc002fzd.2_Silent_p.L592L	p.L592L	NM_002663	NP_002654	O14939	PLD2_HUMAN			17	1877	+			592			Catalytic.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.1776C>T	CCDS11057.1																																																																																				PASS	0.602	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		49	142	49	142	---	---	---	---
SLC35G6	643664	broad.mit.edu	37	17	7385380	7385380	+	Missense_Mutation	SNP	G	G	A	rs61740425	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:7385380G>A	ENST00000412468.2	+	2	192	c.77G>A	c.(76-78)cGc>cAc	p.R26H	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	26						integral component of membrane (GO:0016021)		p.R26H(1)									CCCAGCCTCCGCTGGCACCAG	0.662													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		16967	0.0		0.001	False		,,,				2504	0.0					uc010cmj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CGC>CAC		acyl-malonyl condensing enzyme 1-like 3		G	HIS/ARG,	5,4401	9.9+/-24.2	0,5,2198	45.0	50.0	48.0		77,	0.6	0.2	17	dbSNP_129	48	5,8591	4.3+/-15.6	0,5,4293	no	missense,intron	ZBTB4,SLC35G6	NM_001102614.1,NM_020899.3	29,	0,10,6491	AA,AG,GG		0.0582,0.1135,0.0769	benign,	26/339,	7385380	10,12992	2203	4298	6501	SO:0001583	missense	643664					integral to membrane		g.chr17:7385380G>A		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.77G>A	17.37:g.7385380G>A	ENSP00000396523:p.Arg26His					ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	p.R26H	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN			2	192	+		Prostate(122;0.173)	26						Missense_Mutation	SNP	ENST00000412468.2	37	c.77G>A	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789006	0.16258	0.001135	5.82E-4	ENSG00000181222	ENST00000412468	T	0.26518	1.73	4.21	0.648	0.17801	.	.	.	.	.	T	0.12050	0.0293	N	0.08118	0	0.19300	N	0.999972	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	9	0.41790	T	0.15	0.0119	7.0913	0.25285	0.1843:0.4529:0.3628:0.0	rs61740425	26	P0C7Q6	S35G6_HUMAN	H	26	ENSP00000396523:R26H	ENSP00000396523:R26H	R	+	2	0	SLC35G6	7326104	0.023000	0.18921	0.157000	0.22605	0.507000	0.33981	0.346000	0.19997	0.333000	0.23563	-0.375000	0.07067	CGC		PASS	0.662	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		14	70	14	70	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7681435	7681435	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:7681435T>G	ENST00000572933.1	+	34	6748	c.5288T>G	c.(5287-5289)tTt>tGt	p.F1763C	DNAH2_ENST00000389173.2_Missense_Mutation_p.F1763C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1763	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F1763C(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACACGCAATTTCAGTATAAT	0.542																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(5287-5289)TTT>TGT		dynein heavy chain domain 3							92.0	88.0	89.0					17																	7681435		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7681435T>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5288T>G	17.37:g.7681435T>G	ENSP00000458355:p.Phe1763Cys						p.F1763C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			33	5302	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1763			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5288T>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290324	0.80914	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.32753	1.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.69030	-0.5253	10	0.72032	D	0.01	.	14.7836	0.69784	0.0:0.0:0.0:1.0	.	1763	Q9P225	DYH2_HUMAN	C	1763	ENSP00000373825:F1763C	ENSP00000353818:F1763C	F	+	2	0	DNAH2	7622160	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.962000	0.70364	2.322000	0.78497	0.528000	0.53228	TTT		PASS	0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	43	4	43	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959196	27959196	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:27959196G>T	ENST00000269033.3	-	15	3086	c.2935C>A	c.(2935-2937)Cag>Aag	p.Q979K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Q1006K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	979					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Q979K(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTCCTGCTGTGTTCCAGTA	0.537																																						uc002heo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2935-2937)CAG>AAG		slingshot 2							80.0	76.0	77.0					17																	27959196		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959196G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2935C>A	17.37:g.27959196G>T	ENSP00000269033:p.Gln979Lys					SSH2_uc010wbh.1_Missense_Mutation_p.Q1006K	p.Q979K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	2935	-			979					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2935C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.049629	0.00394	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.07114	3.22;3.22	6.08	2.71	0.32032	.	0.865655	0.09937	N	0.736386	T	0.03011	0.0089	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41980	-0.9478	10	0.02654	T	1	-0.3288	9.3241	0.37982	0.0:0.0711:0.436:0.4929	.	1006;979	F5H527;Q76I76	.;SSH2_HUMAN	K	979;1006	ENSP00000269033:Q979K;ENSP00000444743:Q1006K	ENSP00000269033:Q979K	Q	-	1	0	SSH2	24983322	0.028000	0.19301	0.001000	0.08648	0.582000	0.36321	0.320000	0.19540	0.215000	0.20761	-0.262000	0.10625	CAG		PASS	0.537	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		41	87	41	87	---	---	---	---
KRT33B	3884	broad.mit.edu	37	17	39525757	39525757	+	Silent	SNP	C	C	T	rs201559637		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:39525757C>T	ENST00000251646.3	-	1	295	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	82	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A82A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTCCAGCTCCGCGTTGTCCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18591	0.001		0.0	False		,,,				2504	0.0					uc002hwl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)GCG>GCA		type I hair keratin 3B							63.0	62.0	63.0					17																	39525757		2203	4297	6500	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39525757C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.246G>A	17.37:g.39525757C>T							p.A82A	NM_002279	NP_002270	Q14525	KT33B_HUMAN			1	291	-		Breast(137;0.000496)	82			Coil 1A.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.246G>A	CCDS11389.1																																																																																				PASS	0.607	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		20	108	20	108	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40321497	40321497	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:40321497C>T	ENST00000264661.3	-	9	1920	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	KCNH4_ENST00000607371.1_Missense_Mutation_p.E530K	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	530					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E530K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGGCTACCTCGTTGGCGTCG	0.642																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1588-1590)GAG>AAG		potassium voltage-gated channel, subfamily H,							57.0	58.0	58.0					17																	40321497		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321497C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1588G>A	17.37:g.40321497C>T	ENSP00000264661:p.Glu530Lys						p.E530K	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1921	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	530			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.1588G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899037	0.91962	.	.	ENSG00000089558	ENST00000264661	D	0.96619	-4.07	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.39274	N	0.001401	D	0.94876	0.8344	L	0.45698	1.435	0.80722	D	1	D	0.54047	0.964	P	0.48368	0.575	D	0.93392	0.6752	10	0.19147	T	0.46	.	16.6694	0.85261	0.0:1.0:0.0:0.0	.	530	Q9UQ05	KCNH4_HUMAN	K	530	ENSP00000264661:E530K	ENSP00000264661:E530K	E	-	1	0	KCNH4	37575023	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.902000	0.69869	2.148000	0.66965	0.462000	0.41574	GAG		PASS	0.642	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	78	5	78	---	---	---	---
G6PC	2538	broad.mit.edu	37	17	41063400	41063400	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:41063400G>T	ENST00000253801.2	+	5	1110	c.1031G>T	c.(1030-1032)tGc>tTc	p.C344F	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	344					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.C344F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATCCCCTACTGCCTCGCCCAG	0.557																																						uc002icb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1030-1032)TGC>TTC		glucose-6-phosphatase, catalytic subunit							86.0	88.0	87.0					17																	41063400		2203	4300	6503	SO:0001583	missense	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063400G>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.1031G>T	17.37:g.41063400G>T	ENSP00000253801:p.Cys344Phe					G6PC_uc010whf.1_3'UTR	p.C344F	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1110	+		Breast(137;0.000143)	344			Cytoplasmic (Potential).		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.1031G>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528616	0.85706	.	.	ENSG00000131482	ENST00000253801	T	0.76186	-1.0	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	L	0.61387	1.9	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.85837	0.1395	10	0.62326	D	0.03	.	18.3046	0.90176	0.0:0.0:1.0:0.0	.	344	P35575	G6PC_HUMAN	F	344	ENSP00000253801:C344F	ENSP00000253801:C344F	C	+	2	0	G6PC	38316926	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.238000	0.78173	2.552000	0.86080	0.637000	0.83480	TGC		PASS	0.557	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		30	127	30	127	---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46691646	46691646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:46691646G>A	ENST00000239144.4	-	1	655	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Nonsense_Mutation_p.Q141*	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	141					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q141*(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						AGCTCACCTTGCGGGCGCATC	0.716																																						uc002inw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(421-423)CAA>TAA		homeobox B8							5.0	6.0	6.0					17																	46691646		1973	3969	5942	SO:0001587	stop_gained	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691646G>A		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.421C>T	17.37:g.46691646G>A	ENSP00000239144:p.Gln141*						p.Q141*	NM_024016	NP_076921	P17481	HXB8_HUMAN			1	656	-			141					Q9H1I2	Nonsense_Mutation	SNP	ENST00000239144.4	37	c.421C>T	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	16.66	3.185888	0.57909	.	.	ENSG00000120068	ENST00000239144	.	.	.	2.65	2.65	0.31530	.	0.112267	0.37178	U	0.002206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	13.7153	0.62693	0.0:0.0:1.0:0.0	.	.	.	.	X	141	.	ENSP00000239144:Q141X	Q	-	1	0	HOXB8	44046645	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.143000	0.94623	1.502000	0.48669	0.290000	0.19541	CAA		PASS	0.716	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			4	13	4	13	---	---	---	---
RSAD1	55316	broad.mit.edu	37	17	48561869	48561869	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:48561869G>A	ENST00000258955.2	+	8	1259	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	392					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.E392K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGAGGTGCAGGAGCTGCTGGA	0.642																																						uc002iqw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)GAG>AAG		radical S-adenosyl methionine domain containing							57.0	59.0	58.0					17																	48561869		2203	4300	6503	SO:0001583	missense	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48561869G>A	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1174G>A	17.37:g.48561869G>A	ENSP00000258955:p.Glu392Lys					RSAD1_uc010wmq.1_RNA	p.E392K	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		8	1230	+	Breast(11;1.93e-18)		392					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	c.1174G>A	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	1.110	-0.658469	0.03454	.	.	ENSG00000136444	ENST00000258955	T	0.42131	0.98	5.76	-1.17	0.09648	HemN, C-terminal (1);	0.703558	0.14155	N	0.337766	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.24317	0.101	B	0.21917	0.037	T	0.30822	-0.9965	10	0.08179	T	0.78	3.1329	6.5134	0.22234	0.3322:0.1143:0.5535:0.0	.	392	Q9HA92	RSAD1_HUMAN	K	392	ENSP00000258955:E392K	ENSP00000258955:E392K	E	+	1	0	RSAD1	45916868	0.487000	0.25988	0.001000	0.08648	0.074000	0.17049	0.629000	0.24538	-0.101000	0.12219	-0.140000	0.14226	GAG		PASS	0.642	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		11	144	11	144	---	---	---	---
CD300LB	124599	broad.mit.edu	37	17	72522207	72522207	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr17:72522207G>T	ENST00000392621.1	-	2	165	c.161C>A	c.(160-162)tCc>tAc	p.S54Y	CD300LB_ENST00000314401.3_Missense_Mutation_p.S54Y	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	17	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S54Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GCCTTGGATGGAGAAACAGCC	0.557																																						uc002jkx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)TCC>TAC		CD300 molecule-like family member b							84.0	85.0	85.0					17																	72522207		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522207G>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.161C>A	17.37:g.72522207G>T	ENSP00000376397:p.Ser54Tyr					CD300LB_uc010wqz.1_Missense_Mutation_p.S54Y	p.S54Y	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			2	174	-			17					Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.161C>A	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100098	0.20552	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T;T	0.67345	3.39;-0.26	4.81	2.77	0.32553	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.165010	0.06406	N	0.719643	D	0.82797	0.5115	M	0.86740	2.835	0.09310	N	1	D;D	0.71674	0.995;0.998	D;D	0.72982	0.979;0.979	T	0.59925	-0.7362	10	0.72032	D	0.01	-10.7395	7.2703	0.26252	0.0918:0.326:0.5821:0.0	.	54;17	B4DQ71;A8K4G0	.;CLM7_HUMAN	Y	17;54	ENSP00000376397:S17Y;ENSP00000317337:S54Y	ENSP00000317337:S54Y	S	-	2	0	CD300LB	70033802	0.012000	0.17670	0.016000	0.15963	0.437000	0.31866	1.322000	0.33689	0.518000	0.28383	0.563000	0.77884	TCC		PASS	0.557	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		18	232	18	232	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48604810	48604810	+	Silent	SNP	G	G	T	rs549489716		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr18:48604810G>T	ENST00000342988.3	+	12	2170	c.1632G>T	c.(1630-1632)ccG>ccT	p.P544P	SMAD4_ENST00000398417.2_Silent_p.P544P|SMAD4_ENST00000588745.1_Silent_p.P448P|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	544	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.P544P(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATACCATGCCGATTGCAGACC	0.458																																						uc010xdp.1																			39	Whole gene deletion(36)|Unknown(2)|Substitution - coding silent(1)	p.0?(35)|p.?(2)	pancreas(26)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(1630-1632)CCG>CCT		mothers against decapentaplegic homolog 4							74.0	78.0	76.0					18																	48604810		2203	4300	6503	SO:0001819	synonymous_variant	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604810G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1632G>T	18.37:g.48604810G>T						SMAD4_uc002lfb.3_Silent_p.P389P	p.P544P	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2170	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	544			MH2.		A8K405	Silent	SNP	ENST00000342988.3	37	c.1632G>T	CCDS11950.1																																																																																				PASS	0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		6	69	6	69	---	---	---	---
THEG	51298	broad.mit.edu	37	19	362268	362268	+	Missense_Mutation	SNP	C	C	T	rs112813656		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:362268C>T	ENST00000342640.4	-	8	1114	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	THEG_ENST00000346878.2_Missense_Mutation_p.A334T	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	358					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.A358T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCATAGAGGCGAGGGGACGC	0.602																																						uc002lol.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1072-1074)GCC>ACC		Theg homolog isoform 1		C	THR/ALA,THR/ALA	0,4406		0,0,2203	166.0	166.0	166.0		1072,1000	4.1	0.5	19	dbSNP_132	166	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	THEG	NM_016585.3,NM_199202.1	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	358/380,334/356	362268	1,13005	2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362268C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1072G>A	19.37:g.362268C>T	ENSP00000340088:p.Ala358Thr					THEG_uc002lom.2_Missense_Mutation_p.A334T	p.A358T	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1111	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	358					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.1072G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565035	0.45694	0.0	1.16E-4	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19105	2.17;2.19	4.05	4.05	0.47172	.	1.155690	0.06405	N	0.719546	T	0.15869	0.0382	N	0.08118	0	0.26924	N	0.966605	D;D	0.61080	0.989;0.989	P;P	0.45998	0.5;0.5	T	0.19943	-1.0290	10	0.37606	T	0.19	-5.3661	11.6076	0.51041	0.0:1.0:0.0:0.0	.	334;358	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	T	358;334	ENSP00000340088:A358T;ENSP00000264820:A334T	ENSP00000340088:A358T	A	-	1	0	THEG	313268	0.767000	0.28508	0.525000	0.27900	0.631000	0.37964	2.907000	0.48743	2.088000	0.63022	0.650000	0.86243	GCC		PASS	0.602	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			23	197	23	197	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	439005	439005	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:439005C>A	ENST00000264554.6	-	3	564	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	189	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.A550S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGCACGGCCTCATGGAGC	0.667																																						uc002loq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GCC>TCC		SHC (Src homology 2 domain containing)							21.0	21.0	21.0					19																	439005		1857	4070	5927	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:439005C>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.565G>T	19.37:g.439005C>A	ENSP00000264554:p.Ala189Ser					SHC2_uc002lop.3_5'Flank	p.A189S	NM_012435	NP_036567	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	565	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	189			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.565G>T	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014449	0.54468	.	.	ENSG00000129946	ENST00000264554	T	0.20463	2.07	3.08	3.08	0.35506	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.586313	0.16610	N	0.206950	T	0.37598	0.1009	L	0.51422	1.61	0.30107	N	0.806953	P	0.36125	0.538	P	0.60541	0.876	T	0.26744	-1.0094	10	0.66056	D	0.02	-8.5198	7.8677	0.29547	0.0:0.8747:0.0:0.1253	.	189	P98077	SHC2_HUMAN	S	189	ENSP00000264554:A189S	ENSP00000264554:A189S	A	-	1	0	SHC2	390005	1.000000	0.71417	0.993000	0.49108	0.732000	0.41865	2.765000	0.47621	1.691000	0.51100	0.313000	0.20887	GCC		PASS	0.667	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			3	10	3	10	---	---	---	---
SIRT6	51548	broad.mit.edu	37	19	4174904	4174904	+	Nonsense_Mutation	SNP	C	C	A	rs201007105		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:4174904C>A	ENST00000337491.2	-	8	842	c.778G>T	c.(778-780)Gag>Tag	p.E260*	SIRT6_ENST00000381935.3_Nonsense_Mutation_p.E188*|SIRT6_ENST00000594279.1_Silent_p.T174T|SIRT6_ENST00000601488.1_Silent_p.T185T|SIRT6_ENST00000305232.6_Nonsense_Mutation_p.E233*	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	260	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)	p.E260*(1)		central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATGACCTCGTCAACGTAG	0.721																																						uc002lzo.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(778-780)GAG>TAG		sirtuin 6							22.0	20.0	21.0					19																	4174904		2187	4280	6467	SO:0001587	stop_gained	51548				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr19:4174904C>A	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.778G>T	19.37:g.4174904C>A	ENSP00000337332:p.Glu260*					SIRT6_uc002lzn.2_Silent_p.T174T|SIRT6_uc002lzp.2_Silent_p.T185T|SIRT6_uc010xid.1_Nonsense_Mutation_p.E188*|SIRT6_uc002lzq.2_Nonsense_Mutation_p.E233*|SIRT6_uc002lzr.2_Nonsense_Mutation_p.E161*	p.E260*	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)	8	838	-		Hepatocellular(1079;0.137)	260			Deacetylase sirtuin-type.		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Nonsense_Mutation	SNP	ENST00000337491.2	37	c.778G>T	CCDS12122.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301149	0.81136	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	.	.	.	4.28	4.28	0.50868	.	0.359030	0.31041	N	0.008380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-12.9144	15.2686	0.73681	0.0:1.0:0.0:0.0	.	.	.	.	X	260;233;188	.	ENSP00000305310:E233X	E	-	1	0	SIRT6	4125904	0.977000	0.34250	0.598000	0.28837	0.265000	0.26407	3.429000	0.52800	1.936000	0.56123	0.462000	0.41574	GAG		PASS	0.721	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			7	30	7	30	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5745966	5745966	+	Missense_Mutation	SNP	G	G	T	rs201497391		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:5745966G>T	ENST00000381624.3	+	9	761	c.700G>T	c.(700-702)Ggg>Tgg	p.G234W	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	234					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.G234W(1)									CCGGAGTTTCGGGCTGTCTTT	0.527																																						uc002mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(700-702)GGG>TGG		transmembrane protein 146 precursor							165.0	159.0	161.0					19																	5745966		1897	4121	6018	SO:0001583	missense	257062					integral to membrane		g.chr19:5745966G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.700G>T	19.37:g.5745966G>T	ENSP00000371037:p.Gly234Trp					TMEM146_uc010duj.1_5'UTR	p.G234W	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			9	761	+			234			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.700G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351123	0.41599	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.41400	1.0	2.91	2.91	0.33838	.	0.494533	0.15100	U	0.280548	T	0.55847	0.1946	L	0.55990	1.75	0.40093	D	0.976271	D	0.89917	1.0	D	0.97110	1.0	T	0.57124	-0.7865	10	0.56958	D	0.05	-15.3181	9.5202	0.39131	0.0:0.0:1.0:0.0	.	234	Q86XM0	TM146_HUMAN	W	160;234	ENSP00000371037:G234W	ENSP00000371037:G234W	G	+	1	0	TMEM146	5696966	0.992000	0.36948	0.075000	0.20258	0.017000	0.09413	3.539000	0.53604	1.947000	0.56498	0.491000	0.48974	GGG		PASS	0.527	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		83	257	83	257	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9057326	9057326	+	Silent	SNP	C	C	T	rs562057777		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:9057326C>T	ENST00000397910.4	-	3	30323	c.30120G>A	c.(30118-30120)ccG>ccA	p.P10040P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10042	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P10040P(1)|p.P5673P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATACTCTGCGGTAATGTGG	0.468													c|||	1	0.000199681	0.0	0.0	5008	,	,		22278	0.0		0.001	False		,,,				2504	0.0					uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30118-30120)CCG>CCA		mucin 16							73.0	69.0	70.0					19																	9057326		1976	4151	6127	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057326C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30120G>A	19.37:g.9057326C>T							p.P10040P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30324	-			10042			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30120G>A	CCDS54212.1																																																																																				PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	55	8	55	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10939875	10939875	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:10939875C>A	ENST00000355667.6	+	19	2302	c.2222C>A	c.(2221-2223)aCc>aAc	p.T741N	DNM2_ENST00000314646.5_Missense_Mutation_p.T741N|DNM2_ENST00000389253.4_Missense_Mutation_p.T741N|DNM2_ENST00000408974.4_Missense_Mutation_p.T737N|DNM2_ENST00000359692.6_Missense_Mutation_p.T737N|DNM2_ENST00000585892.1_Missense_Mutation_p.T741N	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	741	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.T737N(1)|p.T741N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACATCAGCACCAGCACTGTG	0.637			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(2221-2223)ACC>AAC		dynamin 2 isoform 2							89.0	66.0	74.0					19																	10939875		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10939875C>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2222C>A	19.37:g.10939875C>A	ENSP00000347890:p.Thr741Asn					DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.T741N|DNM2_uc002mpv.1_Missense_Mutation_p.T737N|DNM2_uc002mpu.1_Missense_Mutation_p.T737N|DNM2_uc010dxl.1_Missense_Mutation_p.T741N|DNM2_uc002mpw.2_Missense_Mutation_p.T470N|DNM2_uc002mpx.1_Missense_Mutation_p.T97N	p.T741N	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		19	2386	+			741			GED.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.2222C>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003819	0.54254	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.92805	-3.11;-3.11;-3.11	4.83	4.83	0.62350	GTPase effector domain, GED (1);	0.118223	0.56097	D	0.000032	D	0.94228	0.8147	L	0.45581	1.43	0.52099	D	0.999942	D;P;P;P;D;P;D	0.69078	0.995;0.946;0.954;0.956;0.997;0.789;0.985	D;P;P;P;D;P;P	0.71184	0.939;0.848;0.616;0.836;0.972;0.836;0.756	D	0.94604	0.7798	10	0.56958	D	0.05	.	16.683	0.85297	0.0:1.0:0.0:0.0	.	335;741;470;737;737;741;741	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	N	737;737;741;741;741;348	ENSP00000386192:T737N;ENSP00000373905:T741N;ENSP00000313164:T741N	ENSP00000313164:T741N	T	+	2	0	DNM2	10800875	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	5.945000	0.70226	2.229000	0.72834	0.460000	0.39030	ACC		PASS	0.637	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		7	64	7	64	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17756884	17756884	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:17756884G>T	ENST00000519716.2	-	18	2080	c.2081C>A	c.(2080-2082)aCa>aAa	p.T694K	UNC13A_ENST00000252773.7_Missense_Mutation_p.T694K|UNC13A_ENST00000428389.2_Missense_Mutation_p.T782K|UNC13A_ENST00000550896.1_Missense_Mutation_p.T692K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T694K|UNC13A_ENST00000552293.1_Missense_Mutation_p.T694K	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	694	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.T782K(1)|p.T694K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACTGGATCCTGTCTTGTCCTT	0.557																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2344-2346)ACA>AAA		unc-13 homolog A							78.0	77.0	77.0					19																	17756884		2070	4228	6298	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756884G>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2081C>A	19.37:g.17756884G>T	ENSP00000429562:p.Thr694Lys						p.T782K	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			18	2345	-			694			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2345C>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199444	0.79015	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.68247	0.2980	N	0.16567	0.415	0.54753	D	0.999989	D	0.63880	0.993	D	0.72982	0.979	T	0.74019	-0.3799	10	0.87932	D	0	-12.334	13.6311	0.62196	0.0:0.0:1.0:0.0	.	694	Q9UPW8	UN13A_HUMAN	K	694;782;694;694;694;692	ENSP00000429562:T694K;ENSP00000400409:T782K;ENSP00000252773:T694K;ENSP00000447236:T694K;ENSP00000447572:T694K;ENSP00000446831:T692K	ENSP00000252773:T694K	T	-	2	0	UNC13A	17617884	1.000000	0.71417	0.992000	0.48379	0.926000	0.56050	9.620000	0.98373	1.874000	0.54306	0.313000	0.20887	ACA		PASS	0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		6	40	6	40	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17768938	17768938	+	Missense_Mutation	SNP	C	C	T	rs139378806		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:17768938C>T	ENST00000519716.2	-	9	699	c.700G>A	c.(700-702)Ggc>Agc	p.G234S	UNC13A_ENST00000252773.7_Missense_Mutation_p.G234S|UNC13A_ENST00000428389.2_Missense_Mutation_p.G322S|UNC13A_ENST00000550896.1_Missense_Mutation_p.G234S|UNC13A_ENST00000551649.1_Missense_Mutation_p.G234S|UNC13A_ENST00000552293.1_Missense_Mutation_p.G234S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	234					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.G234S(1)|p.G322S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCCCGGGAGCCCAGGGGTGGT	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0					uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(964-966)GGC>AGC		unc-13 homolog A							96.0	98.0	97.0					19																	17768938		2026	4189	6215	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17768938C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.700G>A	19.37:g.17768938C>T	ENSP00000429562:p.Gly234Ser						p.G322S	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			10	964	-			234					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.964G>A	CCDS46013.2	6	0.0027472527472527475	2	0.0040650406504065045	0	0.0	0	0.0	4	0.005277044854881266	C	12.68	2.009273	0.35415	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.79940	-1.3;-1.32;-1.3;-1.17;-1.17;-1.3	4.64	3.6	0.41247	.	0.673532	0.12109	U	0.498673	T	0.48484	0.1502	N	0.04018	-0.295	0.26880	N	0.967563	B	0.14805	0.011	B	0.09377	0.004	T	0.39563	-0.9608	10	0.17369	T	0.5	-12.6726	6.236	0.20764	0.0:0.7879:0.0:0.2121	.	234	Q9UPW8	UN13A_HUMAN	S	234;322;234;234;234;234	ENSP00000429562:G234S;ENSP00000400409:G322S;ENSP00000252773:G234S;ENSP00000447236:G234S;ENSP00000447572:G234S;ENSP00000446831:G234S	ENSP00000252773:G234S	G	-	1	0	UNC13A	17629938	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.866000	0.39489	2.146000	0.66826	0.491000	0.48974	GGC		PASS	0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		8	27	8	27	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35804198	35804198	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:35804198G>A	ENST00000392213.3	+	11	1881	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	MAG_ENST00000537831.2_Silent_p.E549E|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	574					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.E574E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTTAGAGCGAGAGGCGCCTGG	0.617																																						uc002nyy.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1720-1722)GAG>GAA		myelin associated glycoprotein isoform a							68.0	69.0	69.0					19																	35804198		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804198G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1722G>A	19.37:g.35804198G>A						MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.E549E|MAG_uc002nyz.1_Silent_p.E574E	p.E574E	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1871	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	574			Cytoplasmic (Potential).		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1722G>A	CCDS12455.1																																																																																				PASS	0.617	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		92	239	92	239	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43689098	43689098	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:43689098T>A	ENST00000366175.3	-	2	396	c.266A>T	c.(265-267)aAt>aTt	p.N89I	PSG5_ENST00000404580.1_Missense_Mutation_p.N89I|PSG5_ENST00000342951.6_Missense_Mutation_p.N89I|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.N89I|PSG5_ENST00000599812.1_Missense_Mutation_p.N89I|PSG5_ENST00000407356.1_Missense_Mutation_p.N89I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	89	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.N89I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCCATATATATTTATTTGACC	0.438																																						uc002ovu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(265-267)AAT>ATT		pregnancy specific beta-1-glycoprotein 5							267.0	259.0	262.0					19																	43689098		2203	4295	6498	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43689098T>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.266A>T	19.37:g.43689098T>A	ENSP00000382334:p.Asn89Ile					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.N17I|PSG5_uc002ovx.2_Missense_Mutation_p.N89I|PSG5_uc002ovv.2_Missense_Mutation_p.N89I|PSG5_uc002ovw.2_Missense_Mutation_p.N89I	p.N89I	NM_002781	NP_002772	Q15238	PSG5_HUMAN			2	397	-		Prostate(69;0.00899)	89			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.266A>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	0.003	-2.482366	0.00163	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	1.24	-2.48	0.06423	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17023	0.0409	N	0.00436	-1.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.004;0.001;0.001	T	0.03852	-1.0998	9	0.05620	T	0.96	.	0.0902	0.00039	0.2802:0.1638:0.2277:0.3283	.	89;89;89;89	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	I	89	ENSP00000382334:N89I;ENSP00000386008:N89I;ENSP00000386053:N89I;ENSP00000344413:N89I;ENSP00000385250:N89I	ENSP00000344413:N89I	N	-	2	0	PSG5	48380938	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.721000	0.00384	-3.783000	0.00107	-2.827000	0.00107	AAT		PASS	0.438	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		240	221	240	221	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44514961	44514961	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:44514961G>A	ENST00000429154.2	+	5	998	c.770G>A	c.(769-771)tGt>tAt	p.C257Y		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	257					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.C257Y(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TGTGAGAAATGTGGGAGGGCC	0.413																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)TGT>TAT		zinc finger protein 230							116.0	121.0	119.0					19																	44514961		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514961G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.770G>A	19.37:g.44514961G>A	ENSP00000409318:p.Cys257Tyr						p.C257Y	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	1021	+		Prostate(69;0.0352)	257			C2H2-type 4.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.770G>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170309	0.57584	.	.	ENSG00000159882	ENST00000429154	D	0.85861	-2.04	2.67	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93903	0.8049	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94964	0.8111	9	0.87932	D	0	.	12.4612	0.55733	0.0:0.0:1.0:0.0	.	257	Q9UIE0	ZN230_HUMAN	Y	257	ENSP00000409318:C257Y	ENSP00000409318:C257Y	C	+	2	0	ZNF230	49206801	1.000000	0.71417	0.072000	0.20136	0.015000	0.08874	8.689000	0.91265	1.468000	0.48064	0.407000	0.27541	TGT		PASS	0.413	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			102	110	102	110	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49671211	49671211	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:49671211T>C	ENST00000252826.5	+	4	431	c.305T>C	c.(304-306)gTt>gCt	p.V102A	TRPM4_ENST00000427978.2_Missense_Mutation_p.V102A|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	102					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.V102A(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCAGCTGCAGTTTATAGTCTG	0.652																																						uc002pmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(304-306)GTT>GCT		transient receptor potential cation channel,							116.0	122.0	120.0					19																	49671211		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671211T>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.305T>C	19.37:g.49671211T>C	ENSP00000252826:p.Val102Ala					TRPM4_uc010emu.2_Missense_Mutation_p.V102A|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Intron|TRPM4_uc010emv.2_Intron|TRPM4_uc010yal.1_Intron	p.V102A	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	4	377	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	102			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.305T>C	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371693	0.42003	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.03330	3.97;3.97	4.54	3.48	0.39840	.	0.182288	0.34178	N	0.004199	T	0.04452	0.0122	L	0.58669	1.825	0.80722	D	1	B;B	0.26577	0.003;0.153	B;B	0.23275	0.015;0.045	T	0.34800	-0.9814	10	0.52906	T	0.07	-3.557	5.0666	0.14585	0.0:0.2867:0.0:0.7133	.	102;102	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	A	102	ENSP00000252826:V102A;ENSP00000407492:V102A	ENSP00000252826:V102A	V	+	2	0	TRPM4	54363023	0.984000	0.35163	0.210000	0.23637	0.949000	0.60115	3.235000	0.51328	0.886000	0.36113	0.402000	0.26972	GTT		PASS	0.652	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		13	280	13	280	---	---	---	---
ALDH16A1	126133	broad.mit.edu	37	19	49965239	49965239	+	Silent	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:49965239C>T	ENST00000293350.4	+	7	1021	c.858C>T	c.(856-858)gaC>gaT	p.D286D	ALDH16A1_ENST00000540132.1_Silent_p.D123D|ALDH16A1_ENST00000455361.2_Intron|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Silent_p.D121D	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	286						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.D286D(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ACACGGCGGACGTAGACTCGG	0.721																																						uc002pnt.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(856-858)GAC>GAT		aldehyde dehydrogenase 16 family, member A1							16.0	14.0	15.0					19																	49965239		2155	4202	6357	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49965239C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.858C>T	19.37:g.49965239C>T						ALDH16A1_uc010yar.1_Intron|ALDH16A1_uc010yas.1_Silent_p.D121D|ALDH16A1_uc010yat.1_Silent_p.D123D	p.D286D	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	7	974	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	286					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.858C>T	CCDS12766.1																																																																																				PASS	0.721	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		6	3	6	3	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54744817	54744817	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr19:54744817G>T	ENST00000396365.2	-	5	884	c.845C>A	c.(844-846)aCc>aAc	p.T282N	LILRA6_ENST00000245621.5_Missense_Mutation_p.T282N|LILRA6_ENST00000440558.2_Missense_Mutation_p.T282N|LILRA6_ENST00000419410.2_Missense_Mutation_p.T282N|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	282	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.T282N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGCCCAGGGTGAAGTTGGC	0.647																																						uc002qeu.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(844-846)ACC>AAC		leukocyte immunoglobulin-like receptor,							41.0	51.0	47.0					19																	54744817		2203	4295	6498	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54744817G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.845C>A	19.37:g.54744817G>T	ENSP00000379651:p.Thr282Asn					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.T282N|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.T282N|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.T282N|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.T282N|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.T282N|LILRA6_uc010yeq.1_Missense_Mutation_p.T282N|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.T143N	p.T282N	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	969	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		282			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.845C>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783903	0.31593	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.39	-0.00395	0.14024	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.817820	0.01025	N	0.004046	T	0.40196	0.1107	M	0.82323	2.585	0.09310	N	1	D;P;D;D	0.61697	0.987;0.888;0.99;0.982	D;P;P;D	0.67900	0.954;0.707;0.875;0.941	T	0.08953	-1.0697	10	0.39692	T	0.17	.	2.5769	0.04808	0.1734:0.0:0.5394:0.2872	.	282;282;282;282	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	N	282	ENSP00000390120:T282N;ENSP00000411227:T282N;ENSP00000379651:T282N;ENSP00000245621:T282N	ENSP00000245621:T282N	T	-	2	0	LILRA6	59436629	0.004000	0.15560	0.066000	0.19879	0.063000	0.16089	-0.416000	0.07097	0.082000	0.17018	0.184000	0.17185	ACC		PASS	0.647	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		49	112	49	112	---	---	---	---
TASP1	55617	broad.mit.edu	37	20	13415774	13415774	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr20:13415774C>A	ENST00000337743.4	-	12	1133	c.1013G>T	c.(1012-1014)gGc>gTc	p.G338V	TASP1_ENST00000539805.1_Missense_Mutation_p.A141S|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	338					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.G338V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GCCAAGCACGCCATCTTCACT	0.403																																						uc002woi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)GGC>GTC		taspase 1 precursor							63.0	55.0	58.0					20																	13415774		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13415774C>A	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.1013G>T	20.37:g.13415774C>A	ENSP00000338624:p.Gly338Val					TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.G315V	p.G338V	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			12	1130	-			338					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.1013G>T	CCDS13116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.137260|2.137260	0.37728|0.37728	.|.	.|.	ENSG00000089123|ENSG00000089123	ENST00000539805|ENST00000337743	.|D	.|0.93426	.|-3.22	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.195199	.|0.56097	.|D	.|0.000027	D|D	0.90525|0.90525	0.7031|0.7031	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.27166	.|0.17	.|B	.|0.31101	.|0.124	D|D	0.87648|0.87648	0.2526|0.2526	6|10	0.87932|0.62326	D|D	0|0.03	-1.7585|-1.7585	18.9061|18.9061	0.92462|0.92462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|338	.|Q9H6P5	.|TASP1_HUMAN	S|V	141|338	.|ENSP00000338624:G338V	ENSP00000444062:A141S|ENSP00000338624:G338V	A|G	-|-	1|2	0|0	TASP1|TASP1	13363774|13363774	0.998000|0.998000	0.40836|0.40836	0.925000|0.925000	0.36789|0.36789	0.632000|0.632000	0.37999|0.37999	5.499000|5.499000	0.66937|0.66937	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GCG|GGC		PASS	0.403	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		4	36	4	36	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37121581	37121581	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr20:37121581G>T	ENST00000262879.6	+	3	479	c.195G>T	c.(193-195)tgG>tgT	p.W65C	RALGAPB_ENST00000397042.3_Missense_Mutation_p.W65C|RALGAPB_ENST00000397040.1_Missense_Mutation_p.W65C|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.W65C			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	65					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.W65C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGGTAAAATGGACCATGGAAG	0.343																																						uc002xiw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(193-195)TGG>TGT		Ral GTPase activating protein, beta subunit							151.0	154.0	153.0					20																	37121581		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37121581G>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.195G>T	20.37:g.37121581G>T	ENSP00000262879:p.Trp65Cys					RALGAPB_uc010zvz.1_Missense_Mutation_p.W65C|RALGAPB_uc002xix.2_Missense_Mutation_p.W65C|RALGAPB_uc002xiy.1_Missense_Mutation_p.W65C|RALGAPB_uc002xiz.2_5'UTR	p.W65C	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			3	452	+			65					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.195G>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619731	0.87460	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.83751	0.0209	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	65;65;65;65	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	C	65	.	ENSP00000262879:W65C	W	+	3	0	RALGAPB	36554995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.343	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		28	199	28	199	---	---	---	---
SGK2	10110	broad.mit.edu	37	20	42203616	42203616	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr20:42203616C>T	ENST00000341458.4	+	9	1064	c.845C>T	c.(844-846)gCa>gTa	p.A282V	SGK2_ENST00000373077.1_Missense_Mutation_p.A221V|SGK2_ENST00000373100.1_Missense_Mutation_p.A222V|SGK2_ENST00000373092.3_Missense_Mutation_p.A222V|SGK2_ENST00000423407.3_Missense_Mutation_p.A222V|SGK2_ENST00000426287.1_Missense_Mutation_p.A248V	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.A282V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGCTTGGGGGCAGTCCTCTAC	0.512																																						uc002xkv.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(844-846)GCA>GTA		serum/glucocorticoid regulated kinase 2 isoform							111.0	99.0	103.0					20																	42203616		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42203616C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.845C>T	20.37:g.42203616C>T	ENSP00000340608:p.Ala282Val					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.A222V|SGK2_uc010ggm.2_Missense_Mutation_p.A222V|SGK2_uc002xks.2_Missense_Mutation_p.A221V|SGK2_uc002xku.2_Missense_Mutation_p.A222V	p.A282V	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		9	1064	+		Myeloproliferative disorder(115;0.00452)	282			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.845C>T	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658922	0.29515	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.81	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049240	0.85682	D	0.000000	T	0.04182	0.0116	N	0.00073	-2.26	0.80722	D	1	P;P;D	0.56746	0.672;0.881;0.977	B;B;P	0.46076	0.251;0.367;0.503	T	0.50346	-0.8839	10	0.02654	T	1	.	17.5274	0.87804	0.0:1.0:0.0:0.0	.	248;282;222	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	V	222;222;221;222;282;248	ENSP00000362192:A222V;ENSP00000362184:A222V;ENSP00000362168:A221V;ENSP00000392795:A222V;ENSP00000340608:A282V;ENSP00000412214:A248V	ENSP00000340608:A282V	A	+	2	0	SGK2	41637030	1.000000	0.71417	0.882000	0.34594	0.751000	0.42716	7.619000	0.83057	2.598000	0.87819	0.462000	0.41574	GCA		PASS	0.512	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			40	52	40	52	---	---	---	---
RNF114	55905	broad.mit.edu	37	20	48568613	48568613	+	Splice_Site	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr20:48568613G>T	ENST00000244061.2	+	6	624	c.622G>T	c.(622-624)Gat>Tat	p.D208Y		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	208					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D208Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						TTGCCCTTAGGATTATGATGT	0.483																																						uc002xux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(622-624)GAT>TAT		zinc finger protein 313							220.0	180.0	194.0					20																	48568613		2203	4300	6503	SO:0001630	splice_region_variant	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48568613G>T	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.622-1G>T	20.37:g.48568613G>T						RNF114_uc010zyo.1_Intron|RNF114_uc002xuy.2_RNA	p.D208Y	NM_018683	NP_061153	Q9Y508	RN114_HUMAN			6	658	+			208					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.622G>T	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895890	0.91962	.	.	ENSG00000124226	ENST00000244061	D	0.83837	-1.77	5.99	5.99	0.97316	.	0.091527	0.64402	D	0.000001	D	0.91593	0.7344	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.90846	0.4727	9	.	.	.	.	19.2492	0.93917	0.0:0.0:1.0:0.0	.	208	Q9Y508	RN114_HUMAN	Y	208	ENSP00000244061:D208Y	.	D	+	1	0	RNF114	48002020	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.093000	0.89531	2.840000	0.97914	0.655000	0.94253	GAT		PASS	0.483	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683	Missense_Mutation	12	67	12	67	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58444975	58444975	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr20:58444975G>A	ENST00000357552.3	-	36	3844	c.3619C>T	c.(3619-3621)Ctt>Ttt	p.L1207F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1207F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1207					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.L1207F(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTTGTGTAAGTACCAGAGAA	0.313																																						uc002yaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(3619-3621)CTT>TTT		synaptonemal complex protein 2							147.0	138.0	141.0					20																	58444975		2199	4295	6494	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58444975G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3619C>T	20.37:g.58444975G>A	ENSP00000350162:p.Leu1207Phe						p.L1207F	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3758	-	all_lung(29;0.00344)		1207					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3619C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252454	0.10185	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.15487	2.42;2.42	4.67	-2.6	0.06190	.	1.823630	0.03118	N	0.163392	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.21177	-1.0253	10	0.10111	T	0.7	3.0727	3.2524	0.06819	0.3619:0.0:0.3313:0.3068	.	1207	Q9BX26	SYCP2_HUMAN	F	1207	ENSP00000360040:L1207F;ENSP00000350162:L1207F	ENSP00000350162:L1207F	L	-	1	0	SYCP2	57878370	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-1.155000	0.03163	-0.748000	0.04753	0.563000	0.77884	CTT		PASS	0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		4	50	4	50	---	---	---	---
OPRL1	4987	broad.mit.edu	37	20	62729830	62729830	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr20:62729830T>C	ENST00000349451.3	+	6	1203	c.791T>C	c.(790-792)cTg>cCg	p.L264P	OPRL1_ENST00000336866.2_Missense_Mutation_p.L264P|OPRL1_ENST00000355631.4_Missense_Mutation_p.L264P	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	264					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.L264P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATCACTCGGCTGGTGCTGGTG	0.662																																						uc002yic.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(790-792)CTG>CCG		opiate receptor-like 1							79.0	70.0	73.0					20																	62729830		2202	4296	6498	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729830T>C		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.791T>C	20.37:g.62729830T>C	ENSP00000336764:p.Leu264Pro					OPRL1_uc002yid.2_Missense_Mutation_p.L264P|OPRL1_uc002yif.3_Missense_Mutation_p.L259P	p.L264P	NM_182647	NP_872588	P41146	OPRX_HUMAN			5	1193	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		264			Cytoplasmic (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.791T>C	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306750	0.81247	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.40225	1.04;1.04;1.04	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.104829	0.64402	D	0.000012	T	0.68897	0.3051	M	0.90759	3.145	0.80722	D	1	D;D	0.69078	0.983;0.997	P;D	0.67548	0.804;0.952	T	0.77205	-0.2673	10	0.87932	D	0	.	14.288	0.66258	0.0:0.0:0.0:1.0	.	259;264	P41146-2;P41146	.;OPRX_HUMAN	P	264	ENSP00000336843:L264P;ENSP00000347848:L264P;ENSP00000336764:L264P	ENSP00000336843:L264P	L	+	2	0	OPRL1	62200274	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.838000	0.86804	1.780000	0.52325	0.409000	0.27619	CTG		PASS	0.662	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		46	60	46	60	---	---	---	---
GABPA	2551	broad.mit.edu	37	21	27117565	27117565	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr21:27117565C>G	ENST00000354828.3	+	3	649	c.122C>G	c.(121-123)gCc>gGc	p.A41G	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.A41G	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	41					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	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 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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A41G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GTAAGCCAGGCCATAGACATC	0.383																																						uc002ylx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(121-123)GCC>GGC		GA binding protein transcription factor, alpha							73.0	72.0	72.0					21																	27117565		2203	4298	6501	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27117565C>G		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.122C>G	21.37:g.27117565C>G	ENSP00000346886:p.Ala41Gly					GABPA_uc002yly.3_Missense_Mutation_p.A41G	p.A41G	NM_002040	NP_002031	Q06546	GABPA_HUMAN			3	649	+			41					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.122C>G	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815613	0.32145	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.12255	2.7;2.7	5.23	5.23	0.72850	GA-binding protein alpha subunit, N-terminal (1);	0.105865	0.64402	D	0.000005	T	0.12135	0.0295	N	0.22421	0.69	0.42321	D	0.992251	B	0.25390	0.125	B	0.27715	0.082	T	0.15350	-1.0440	10	0.26408	T	0.33	.	18.3943	0.90493	0.0:1.0:0.0:0.0	.	41	Q06546	GABPA_HUMAN	G	41	ENSP00000346886:A41G;ENSP00000382948:A41G	ENSP00000346886:A41G	A	+	2	0	GABPA	26039436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.804000	0.69135	2.436000	0.82500	0.655000	0.94253	GCC		PASS	0.383	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		18	79	18	79	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28338220	28338220	+	Missense_Mutation	SNP	G	G	T	rs368988798		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr21:28338220G>T	ENST00000284987.5	-	1	612	c.491C>A	c.(490-492)aCc>aAc	p.T164N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	164					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T164N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCTTTAGGGTGTAGCGCGC	0.652																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(490-492)ACC>AAC		ADAM metallopeptidase with thrombospondin type 1		G	ASN/THR	0,4404		0,0,2202	25.0	27.0	26.0		491	3.7	1.0	21		26	1,8589		0,1,4294	no	missense	ADAMTS5	NM_007038.3	65	0,1,6496	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	164/931	28338220	1,12993	2202	4295	6497	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338220G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.491C>A	21.37:g.28338220G>T	ENSP00000284987:p.Thr164Asn						p.T164N	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	1220	-			164					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.491C>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308233	0.60305	0.0	1.16E-4	ENSG00000154736	ENST00000284987	T	0.06294	3.32	4.57	3.69	0.42338	Peptidase M12B, propeptide (1);	0.060469	0.64402	D	0.000003	T	0.13798	0.0334	L	0.32530	0.975	0.45502	D	0.998461	D	0.71674	0.998	D	0.64877	0.93	T	0.01578	-1.1320	10	0.72032	D	0.01	.	12.9015	0.58128	0.0787:0.0:0.9213:0.0	.	164	Q9UNA0	ATS5_HUMAN	N	164	ENSP00000284987:T164N	ENSP00000284987:T164N	T	-	2	0	ADAMTS5	27260091	1.000000	0.71417	0.992000	0.48379	0.779000	0.44077	4.231000	0.58639	1.127000	0.42034	-0.254000	0.11334	ACC		PASS	0.652	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	17	4	17	---	---	---	---
CBS	875	broad.mit.edu	37	21	44474028	44474028	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr21:44474028G>T	ENST00000398165.3	-	17	1877	c.1618C>A	c.(1618-1620)Ctg>Atg	p.L540M	CBS_ENST00000544202.1_Missense_Mutation_p.L452M|CBS_ENST00000398158.1_Missense_Mutation_p.L540M|CBS_ENST00000352178.5_Missense_Mutation_p.L540M|CBS_ENST00000359624.3_Missense_Mutation_p.L540M|CBS_ENST00000398168.1_Missense_Mutation_p.L554M	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	540					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)	p.L540M(1)|p.L554M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACGAAGTTCAGCAAGTCAATG	0.652																																						uc002zcu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1618-1620)CTG>ATG		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						46.0	44.0	45.0					21																	44474028		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44474028G>T	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1618C>A	21.37:g.44474028G>T	ENSP00000381231:p.Leu540Met					CBS_uc002zcs.1_Missense_Mutation_p.L435M|CBS_uc002zct.2_Missense_Mutation_p.L540M|CBS_uc002zcw.3_Missense_Mutation_p.L540M|CBS_uc002zcv.2_Missense_Mutation_p.L540M	p.L540M	NM_000071	NP_000062	P35520	CBS_HUMAN			17	1863	-			540					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.1618C>A	CCDS13693.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.954377|3.954377	0.73902|0.73902	.|.	.|.	ENSG00000160200|ENSG00000160200	ENST00000451248|ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	.|D;D;D;D;D;D	.|0.96992	.|-4.2;-4.2;-4.2;-4.2;-4.2;-4.2	5.2|5.2	4.32|4.32	0.51571|0.51571	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.98280|0.98280	0.9430|0.9430	M|M	0.91090|0.91090	3.175|3.175	0.49798|0.49798	D|D	0.999824|0.999824	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.75020	.|0.985;0.973	D|D	0.98956|0.98956	1.0796|1.0796	5|10	.|0.87932	.|D	.|0	-20.5104|-20.5104	13.4062|13.4062	0.60915|0.60915	0.077:0.0:0.923:0.0|0.077:0.0:0.923:0.0	.|.	.|540;497	.|P35520;B7Z2D6	.|CBS_HUMAN;.	D|M	137|540;540;540;540;554;497;452	.|ENSP00000381225:L540M;ENSP00000381231:L540M;ENSP00000352643:L540M;ENSP00000344460:L540M;ENSP00000381234:L554M;ENSP00000439332:L452M	.|ENSP00000344460:L540M	A|L	-|-	2|1	0|2	CBS|CBS	43347097|43347097	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.510000|0.510000	0.34073|0.34073	5.824000|5.824000	0.69279|0.69279	1.193000|1.193000	0.43086|0.43086	0.558000|0.558000	0.71614|0.71614	GCT|CTG		PASS	0.652	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		7	51	7	51	---	---	---	---
Unknown	0	broad.mit.edu	37	22	25714193	25714193	+	IGR	SNP	C	C	A	rs112211231	byFrequency	TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr22:25714193C>A								RP3-462D8.2 (35935 upstream) : LRP5L (33194 downstream)														p.T69K(1)									TCACAGCCTACACACTGCAGC	0.642																																						uc003abr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)ACA>AAA		immunoglobulin lambda-like polypeptide 3							79.0	69.0	72.0					22																	25714193		2201	4300	6501	SO:0001628	intergenic_variant	91353							g.chr22:25714193C>A																													22.37:g.25714193C>A							p.T69K	NM_001013618	NP_001013640					1	306	+									Missense_Mutation	SNP		37	c.206C>A																																																																																				0	PASS	0.642									19	77	19	77	---	---	---	---
CRYBA4	1413	broad.mit.edu	37	22	27026323	27026323	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr22:27026323C>T	ENST00000354760.3	+	6	498	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	155	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.P155S(2)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CTCCCAGTTTCCGGGCTACCG	0.527																																						uc003acz.3																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(463-465)CCG>TCG		crystallin, beta A4							138.0	105.0	116.0					22																	27026323		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27026323C>T		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.463C>T	22.37:g.27026323C>T	ENSP00000346805:p.Pro155Ser						p.P155S	NM_001886	NP_001877	P53673	CRBA4_HUMAN			6	498	+			155			Beta/gamma crystallin 'Greek key' 4.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.463C>T	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265140	0.59431	.	.	ENSG00000196431	ENST00000354760	T	0.79033	-1.23	4.42	4.42	0.53409	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90532	0.4496	10	0.62326	D	0.03	.	14.5738	0.68232	0.0:1.0:0.0:0.0	.	155	P53673	CRBA4_HUMAN	S	155	ENSP00000346805:P155S	ENSP00000346805:P155S	P	+	1	0	CRYBA4	25356323	1.000000	0.71417	0.985000	0.45067	0.186000	0.23388	6.555000	0.73928	2.299000	0.77371	0.555000	0.69702	CCG		PASS	0.527	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		3	37	3	37	---	---	---	---
C1QTNF6	114904	broad.mit.edu	37	22	37578404	37578404	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chr22:37578404C>A	ENST00000337843.2	-	3	736	c.661G>T	c.(661-663)Gcg>Tcg	p.A221S	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.A221S|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.A97S	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	202	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.A221S(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CTGGGCTGCGCGTACAGGATG	0.582																																						uc003aqw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)GCG>TCG		C1q and tumor necrosis factor related protein 6							89.0	67.0	74.0					22																	37578404		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37578404C>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.661G>T	22.37:g.37578404C>A	ENSP00000338812:p.Ala221Ser					C1QTNF6_uc003aqx.1_Missense_Mutation_p.A221S|C1QTNF6_uc003aqy.1_Missense_Mutation_p.A221S|C1QTNF6_uc003aqz.1_RNA	p.A202S	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			2	1109	-			202			C1q.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.604G>T	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724549	0.89298	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.75477	-0.94;-0.94;-0.94	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.86165	0.1596	10	0.45353	T	0.12	.	18.1776	0.89766	0.0:1.0:0.0:0.0	.	221;202	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	S	221;221;97	ENSP00000380299:A221S;ENSP00000338812:A221S;ENSP00000255836:A97S	ENSP00000255836:A97S	A	-	1	0	C1QTNF6	35908350	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.286000	0.76751	0.561000	0.74099	GCG		PASS	0.582	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		14	37	14	37	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14883178	14883178	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:14883178A>C	ENST00000324138.3	-	2	608	c.455T>G	c.(454-456)tTt>tGt	p.F152C	FANCB_ENST00000398334.1_Missense_Mutation_p.F152C	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	152					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.F152C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AGAAGAGATAAAGAAGAATGC	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(454-456)TTT>TGT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							65.0	64.0	64.0					X																	14883178		2203	4299	6502	SO:0001583	missense	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883178A>C	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.455T>G	X.37:g.14883178A>C	ENSP00000326819:p.Phe152Cys					FANCB_uc004cwh.1_Missense_Mutation_p.F152C	p.F152C	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			3	723	-	Hepatocellular(33;0.183)		152					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.455T>G	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	A	3.630	-0.075737	0.07184	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03386	3.95;3.95;3.95	5.82	-10.1	0.00402	.	1.006310	0.07970	N	0.983780	T	0.01421	0.0046	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.51741	-0.8667	10	0.48119	T	0.1	1.1257	8.175	0.31276	0.4295:0.0791:0.0:0.4915	.	152	Q8NB91	FANCB_HUMAN	C	152	ENSP00000326819:F152C;ENSP00000381378:F152C;ENSP00000397849:F152C	ENSP00000326819:F152C	F	-	2	0	FANCB	14793099	0.094000	0.21725	0.000000	0.03702	0.005000	0.04900	-0.769000	0.04710	-1.824000	0.01209	-0.269000	0.10298	TTT		PASS	0.393	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		20	60	20	60	---	---	---	---
MAP7D2	256714	broad.mit.edu	37	X	20033400	20033400	+	Missense_Mutation	SNP	G	G	A	rs199934348		TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:20033400G>A	ENST00000379651.3	-	11	1585	c.1567C>T	c.(1567-1569)Cgt>Tgt	p.R523C	MAP7D2_ENST00000543767.1_Missense_Mutation_p.R408C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R471C|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R478C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R564C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	523					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R523C(1)|p.R564C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCTCGAGACGCATCTGTTCA	0.463																																						uc004czr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1567-1569)CGT>TGT		MAP7 domain containing 2							182.0	139.0	154.0					X																	20033400		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20033400G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1567C>T	X.37:g.20033400G>A	ENSP00000368972:p.Arg523Cys					MAP7D2_uc004czq.1_Missense_Mutation_p.R408C|MAP7D2_uc011mji.1_Missense_Mutation_p.R471C|MAP7D2_uc010nfo.1_Missense_Mutation_p.R564C|MAP7D2_uc011mjj.1_Missense_Mutation_p.R478C	p.R523C	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			11	1586	-			523					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1567C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106971	0.56291	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.6	4.74	0.60224	.	0.000000	0.64402	D	0.000002	T	0.63558	0.2521	M	0.89601	3.045	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.67995	-0.5526	10	0.87932	D	0	-2.9058	8.5646	0.33531	0.0786:0.0:0.7698:0.1517	.	478;471;564;523;408	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	C	523;564;408;478;206;471	ENSP00000368972:R523C;ENSP00000368964:R564C;ENSP00000440691:R408C;ENSP00000388239:R478C;ENSP00000413301:R471C	ENSP00000368964:R564C	R	-	1	0	MAP7D2	19943321	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	4.400000	0.59709	1.123000	0.41961	0.508000	0.49915	CGT		PASS	0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		4	107	4	107	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54275554	54275554	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:54275554G>A	ENST00000375159.2	-	16	3226	c.3227C>T	c.(3226-3228)cCc>cTc	p.P1076L	WNK3_ENST00000354646.2_Missense_Mutation_p.P1076L|WNK3_ENST00000375169.3_Missense_Mutation_p.P1076L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1076					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P1076L(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTCTGAGTGGGAATGACTGT	0.468																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(3226-3228)CCC>CTC		WNK lysine deficient protein kinase 3 isoform 2							96.0	84.0	88.0					X																	54275554		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54275554G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3227C>T	X.37:g.54275554G>A	ENSP00000364301:p.Pro1076Leu					WNK3_uc004dtc.1_Missense_Mutation_p.P1076L	p.P1076L	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			17	3666	-			1076					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3227C>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	4.667	0.124035	0.08931	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.37584	1.19;1.19;1.19	5.02	3.94	0.45596	.	0.880464	0.09848	N	0.747978	T	0.26304	0.0642	L	0.29908	0.895	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.002	T	0.09574	-1.0668	10	0.52906	T	0.07	1.5442	6.1393	0.20251	0.306:0.0:0.694:0.0	.	1076;1076	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	L	1076	ENSP00000364312:P1076L;ENSP00000346667:P1076L;ENSP00000364301:P1076L	ENSP00000346667:P1076L	P	-	2	0	WNK3	54292279	0.901000	0.30685	0.773000	0.31616	0.766000	0.43426	3.893000	0.56243	2.057000	0.61298	0.422000	0.28245	CCC		PASS	0.468	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		14	21	14	21	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71427657	71427657	+	Silent	SNP	G	G	T			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:71427657G>T	ENST00000334463.3	-	2	1095	c.960C>A	c.(958-960)atC>atA	p.I320I	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Silent_p.I197I	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	320					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I320I(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGGGTTTTATGATTGCCATTA	0.383																																						uc004eaq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(958-960)ATC>ATA		excision repair protein ERCC6-like							113.0	111.0	112.0					X																	71427657		2203	4298	6501	SO:0001819	synonymous_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427657G>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.960C>A	X.37:g.71427657G>T						PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.I197I	p.I320I	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			2	1057	-	Renal(35;0.156)		320					Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.960C>A	CCDS35329.1																																																																																				PASS	0.383	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		67	79	67	79	---	---	---	---
SLC25A43	203427	broad.mit.edu	37	X	118544310	118544310	+	Silent	SNP	G	G	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:118544310G>A	ENST00000217909.7	+	3	1019	c.675G>A	c.(673-675)gtG>gtA	p.V225V	SLC25A43_ENST00000336249.7_Intron|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	225					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.V225V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TTGAGACCGTGAAGAGAAAGA	0.517																																						uc004erd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(673-675)GTG>GTA		mitochondrial solute carrier protein							87.0	80.0	82.0					X																	118544310		2203	4300	6503	SO:0001819	synonymous_variant	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118544310G>A	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.675G>A	X.37:g.118544310G>A						SLC25A43_uc004erc.1_RNA|SLC25A43_uc011mtt.1_Intron	p.V225V	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN			3	1019	+			225			Solcar 3.|Helical; Name=5; (Potential).		O75854|Q8N9L5	Silent	SNP	ENST00000217909.7	37	c.675G>A	CCDS14577.1																																																																																				PASS	0.517	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		49	61	49	61	---	---	---	---
GPC4	2239	broad.mit.edu	37	X	132437087	132437087	+	Silent	SNP	A	A	G			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:132437087A>G	ENST00000370828.3	-	9	2003	c.1479T>C	c.(1477-1479)agT>agC	p.S493S	GPC4_ENST00000535467.1_Silent_p.S423S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	493					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S493S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCACTACTTTCATCAC	0.403																																						uc004exc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1477-1479)AGT>AGC		glypican 4 precursor							167.0	154.0	158.0					X																	132437087		2203	4300	6503	SO:0001819	synonymous_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132437087A>G	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1479T>C	X.37:g.132437087A>G						GPC4_uc011mvg.1_Silent_p.S423S	p.S493S	NM_001448	NP_001439	O75487	GPC4_HUMAN			9	1691	-	Acute lymphoblastic leukemia(192;0.000127)		493					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	c.1479T>C	CCDS14637.1																																																																																				PASS	0.403	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		88	75	88	75	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144905219	144905219	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:144905219C>A	ENST00000370490.1	+	1	5531	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	SLITRK2_ENST00000413937.2_Missense_Mutation_p.R426S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R426S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R426S|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R426S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	426					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R426S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAGTTTACGCAGACTTTA	0.398																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1276-1278)CGC>AGC		SLIT and NTRK-like family, member 2 precursor							128.0	128.0	128.0					X																	144905219		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905219C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1276C>A	X.37:g.144905219C>A	ENSP00000359521:p.Arg426Ser					SLITRK2_uc010nsp.2_Missense_Mutation_p.R426S|SLITRK2_uc010nso.2_Missense_Mutation_p.R426S|SLITRK2_uc011mwq.1_Missense_Mutation_p.R426S|SLITRK2_uc011mwr.1_Missense_Mutation_p.R426S|SLITRK2_uc011mws.1_Missense_Mutation_p.R426S|SLITRK2_uc004fcg.2_Missense_Mutation_p.R426S|SLITRK2_uc011mwt.1_Missense_Mutation_p.R426S	p.R426S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2266	+	Acute lymphoblastic leukemia(192;6.56e-05)		426			Extracellular (Potential).|LRR 9.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1276C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434333	0.62955	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	N	0.16307	0.4	0.53688	D	0.999971	D	0.89917	1.0	D	0.97110	1.0	T	0.61008	-0.7149	10	0.44086	T	0.13	-6.2658	15.6062	0.76672	0.0:1.0:0.0:0.0	.	426	Q9H156	SLIK2_HUMAN	S	426	ENSP00000334374:R426S;ENSP00000411681:R426S;ENSP00000359521:R426S;ENSP00000397015:R426S;ENSP00000407347:R426S;ENSP00000412010:R426S	ENSP00000334374:R426S	R	+	1	0	SLITRK2	144712911	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.135000	0.50546	2.280000	0.76307	0.594000	0.82650	CGC		PASS	0.398	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		91	88	91	88	---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153209166	153209166	+	Silent	SNP	A	A	C			TCGA-21-1071-01A-01D-1521-08	TCGA-21-1071-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e01302f9-c5d6-4745-9c5d-d8bb8d278a77	6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29	g.chrX:153209166A>C	ENST00000393700.3	-	5	374	c.294T>G	c.(292-294)ggT>ggG	p.G98G	RENBP_ENST00000369997.3_Silent_p.G84G|RENBP_ENST00000412763.1_Silent_p.G98G|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	98					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.G88G(1)|p.G98G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCAAGAACTCACCACCTGGAG	0.637																																						uc004fjo.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(292-294)GGT>GGG		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						50.0	44.0	46.0					X																	153209166		2203	4300	6503	SO:0001819	synonymous_variant	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209166A>C		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.294T>G	X.37:g.153209166A>C						RENBP_uc011mzh.1_Silent_p.G98G	p.G98G	NM_002910	NP_002901	P51606	RENBP_HUMAN			5	464	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		98					B4DNZ3|Q96BI6	Silent	SNP	ENST00000393700.3	37	c.294T>G	CCDS14738.2																																																																																				PASS	0.637	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		28	30	28	30	---	---	---	---
