#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
CCDC27	148870	broad.mit.edu	37	1	3669114	3669114	+	Silent	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:3669114C>A	ENST00000294600.2	+	1	153	c.69C>A	c.(67-69)ggC>ggA	p.G23G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	23								p.G23G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AAAAGCCGGGCCTGTCCTCAT	0.572																																						uc001akv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(67-69)GGC>GGA		coiled-coil domain containing 27							123.0	109.0	114.0					1																	3669114		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3669114C>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.69C>A	1.37:g.3669114C>A							p.G23G	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	1	150	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	23					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.69C>A	CCDS50.1																																																																																				PASS	0.572	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		45	66	45	66	---	---	---	---
CTRC	11330	broad.mit.edu	37	1	15769956	15769956	+	Silent	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:15769956G>C	ENST00000375949.4	+	5	425	c.399G>C	c.(397-399)ctG>ctC	p.L133L	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_Nonstop_Mutation_p.*70S	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.L133L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGGAGCTGAGTGACACCA	0.607																																						uc001awi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)CTG>CTC		chymotrypsin C preproprotein							207.0	191.0	196.0					1																	15769956		2203	4300	6503	SO:0001819	synonymous_variant	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15769956G>C	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.399G>C	1.37:g.15769956G>C						CTRC_uc001awj.1_Silent_p.L133L	p.L133L	NM_007272	NP_009203	Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	422	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	133			Peptidase S1.		A8K082|O00765|Q9NUH5	Silent	SNP	ENST00000375949.4	37	c.399G>C	CCDS156.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.626841	0.46840	.	.	ENSG00000162438	ENST00000375943	.	.	.	4.91	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3621	13.7371	0.62824	0.0:0.2948:0.7052:0.0	.	.	.	.	S	70	.	.	X	+	2	2	CTRC	15642543	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	0.850000	0.27737	0.621000	0.30232	0.549000	0.68633	TGA		PASS	0.607	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		38	361	38	361	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22922656	22922656	+	Silent	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:22922656G>A	ENST00000166244.3	+	9	1827	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	585					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Q585Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCACTATCAGAATGGACAGG	0.657																																						uc001bfx.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1753-1755)CAG>CAA		ephrin receptor EphA8 isoform 1 precursor							66.0	57.0	60.0					1																	22922656		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22922656G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1755G>A	1.37:g.22922656G>A							p.Q585Q	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	9	1880	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	585			Cytoplasmic (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1755G>A	CCDS225.1																																																																																				PASS	0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		12	41	12	41	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34076646	34076646	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:34076646T>C	ENST00000373380.1	-	20	3177	c.2957A>G	c.(2956-2958)tAt>tGt	p.Y986C	CSMD2_ENST00000373377.1_Missense_Mutation_p.Y212C|CSMD2_ENST00000373381.4_Missense_Mutation_p.Y2113C|CSMD2_ENST00000373388.2_Missense_Mutation_p.Y212C			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2073	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y2073C(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACCCTGATACTCCAGCTT	0.572																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6217-6219)TAT>TGT		CUB and Sushi multiple domains 2							99.0	86.0	90.0					1																	34076646		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076646T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2957A>G	1.37:g.34076646T>C	ENSP00000362478:p.Tyr986Cys					CSMD2_uc001bxm.1_Missense_Mutation_p.Y2113C|CSMD2_uc001bxo.1_Missense_Mutation_p.Y986C	p.Y2073C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			41	6247	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2073			CUB 12.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6218A>G		.	.	.	.	.	.	.	.	.	.	T	23.0	4.359619	0.82353	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.26	5.26	0.73747	CUB (5);	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	H	0.99169	4.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89180	0.3543	10	0.72032	D	0.01	.	14.3657	0.66805	0.0:0.0:0.0:1.0	.	986;2073;2113	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	C	2113;986;212;212	ENSP00000362479:Y2113C;ENSP00000362478:Y986C;ENSP00000362475:Y212C;ENSP00000362486:Y212C	ENSP00000241312:Y2073C	Y	-	2	0	CSMD2	33849233	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.967000	0.87967	1.999000	0.58509	0.459000	0.35465	TAT		PASS	0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		5	29	5	29	---	---	---	---
PPAP2B	8613	broad.mit.edu	37	1	56989495	56989495	+	Splice_Site	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:56989495C>G	ENST00000371250.3	-	4	1184	c.633G>C	c.(631-633)gtG>gtC	p.V211V		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	211					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.V211V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGGTACTTACCACCAAATACA	0.488																																						uc001cyj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)GTG>GTC		phosphatidic acid phosphatase type 2B							105.0	94.0	98.0					1																	56989495		2203	4300	6503	SO:0001630	splice_region_variant	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56989495C>G	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.633+1G>C	1.37:g.56989495C>G							p.V211V	NM_177414	NP_803133	O14495	LPP3_HUMAN			5	1134	-			211			Helical; (Potential).		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Silent	SNP	ENST00000371250.3	37	c.633G>C	CCDS604.1																																																																																				PASS	0.488	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713	Silent	16	59	16	59	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76878011	76878011	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:76878011G>T	ENST00000328299.3	+	3	680	c.532G>T	c.(532-534)Ggt>Tgt	p.G178C	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	178					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.G178C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAGACAGTTGGTATCTATCC	0.423																																						uc001dhh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(532-534)GGT>TGT		sialyltransferase 7C isoform 1							101.0	98.0	99.0					1																	76878011		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76878011G>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.532G>T	1.37:g.76878011G>T	ENSP00000329214:p.Gly178Cys					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.G178C|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.G113C	p.G178C	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	695	+			178			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.532G>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497293	0.44455	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.30448	1.53	6.04	6.04	0.98038	.	0.239968	0.42420	D	0.000704	T	0.29588	0.0738	N	0.24115	0.695	0.21762	N	0.999555	P;P;P	0.48503	0.911;0.84;0.566	P;P;B	0.58520	0.447;0.84;0.036	T	0.19679	-1.0298	10	0.66056	D	0.02	-21.7182	19.583	0.95478	0.0:0.0:1.0:0.0	.	113;178;178	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	C	178;178;177;112	ENSP00000329214:G178C	ENSP00000329214:G178C	G	+	1	0	ST6GALNAC3	76650599	1.000000	0.71417	0.023000	0.16930	0.010000	0.07245	5.299000	0.65716	2.873000	0.98535	0.563000	0.77884	GGT		PASS	0.423	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		46	177	46	177	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78177450	78177450	+	Silent	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:78177450T>C	ENST00000370793.1	-	22	2827	c.2481A>G	c.(2479-2481)gaA>gaG	p.E827E	USP33_ENST00000370794.3_Silent_p.E796E|USP33_ENST00000357428.1_Silent_p.E827E|USP33_ENST00000370792.3_Silent_p.E819E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	827	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E827E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAATTTCCAATTCAGTTTTTC	0.328																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(2479-2481)GAA>GAG		ubiquitin specific protease 33 isoform 1							40.0	46.0	44.0					1																	78177450		2202	4300	6502	SO:0001819	synonymous_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78177450T>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2481A>G	1.37:g.78177450T>C						USP33_uc001dhs.2_Silent_p.E548E|USP33_uc001dhu.2_Silent_p.E796E|USP33_uc001dhv.2_Silent_p.E632E|USP33_uc001dhw.2_Silent_p.E819E	p.E827E	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			22	2828	-			827			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	c.2481A>G	CCDS678.1	.	.	.	.	.	.	.	.	.	.	T	2.874	-0.233339	0.05983	.	.	ENSG00000077254	ENST00000481579	.	.	.	5.37	3.01	0.34805	.	.	.	.	.	T	0.48040	0.1478	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43393	-0.9394	4	.	.	.	.	10.9118	0.47114	0.0:0.1981:0.0:0.8019	.	.	.	.	S	432	.	.	N	-	2	0	USP33	77950038	1.000000	0.71417	0.970000	0.41538	0.472000	0.32918	1.948000	0.40303	0.425000	0.26087	-1.139000	0.01908	AAT		PASS	0.328	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		23	112	23	112	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118550722	118550722	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:118550722C>A	ENST00000336338.5	-	31	4597	c.4532G>T	c.(4531-4533)tGt>tTt	p.C1511F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1511						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.C1511F(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAGGTGGCACAGCAGCTACT	0.512																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4531-4533)TGT>TTT		sperm associated antigen 17							153.0	125.0	135.0					1																	118550722		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118550722C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4532G>T	1.37:g.118550722C>A	ENSP00000337804:p.Cys1511Phe						p.C1511F	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	31	4600	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1511					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4532G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032769	0.75504	.	.	ENSG00000155761	ENST00000336338	T	0.18174	2.23	5.83	5.83	0.93111	.	0.230621	0.49305	D	0.000150	T	0.34337	0.0894	M	0.64997	1.995	0.43076	D	0.994724	D	0.89917	1.0	D	0.91635	0.999	T	0.02639	-1.1130	10	0.66056	D	0.02	.	18.9089	0.92474	0.0:1.0:0.0:0.0	.	1511	Q6Q759	SPG17_HUMAN	F	1511	ENSP00000337804:C1511F	ENSP00000337804:C1511F	C	-	2	0	SPAG17	118352245	0.969000	0.33509	1.000000	0.80357	0.995000	0.86356	1.466000	0.35310	2.763000	0.94921	0.563000	0.77884	TGT		PASS	0.512	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		20	107	20	107	---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151378546	151378546	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:151378546T>A	ENST00000271715.2	-	19	3279	c.2965A>T	c.(2965-2967)Aca>Tca	p.T989S	POGZ_ENST00000409503.1_Missense_Mutation_p.T980S|POGZ_ENST00000361398.3_Missense_Mutation_p.T936S|POGZ_ENST00000491586.1_Missense_Mutation_p.T945S|POGZ_ENST00000540984.1_Missense_Mutation_p.T351S|POGZ_ENST00000531094.1_Missense_Mutation_p.T927S|POGZ_ENST00000392723.1_Missense_Mutation_p.T936S|POGZ_ENST00000368863.2_Missense_Mutation_p.T894S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	989					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T989S(1)|p.T945S(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTGTTCTGTATTGCAGCAT	0.522																																						uc001eyd.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2965-2967)ACA>TCA		pogo transposable element with ZNF domain							82.0	77.0	79.0					1																	151378546		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151378546T>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2965A>T	1.37:g.151378546T>A	ENSP00000271715:p.Thr989Ser					POGZ_uc001eye.1_Missense_Mutation_p.T936S|POGZ_uc010pdb.1_Missense_Mutation_p.T980S|POGZ_uc001eyf.1_Missense_Mutation_p.T945S|POGZ_uc010pdc.1_Missense_Mutation_p.T927S|POGZ_uc009wmv.1_Missense_Mutation_p.T894S|POGZ_uc010pdd.1_Missense_Mutation_p.T480S	p.T989S	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	3271	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		989					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.2965A>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969442	0.53614	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.23147	5.89;5.91;5.89;5.86;5.9;5.9;1.92;5.38	5.53	5.53	0.82687	.	0.082575	0.50627	D	0.000110	T	0.15435	0.0372	N	0.08118	0	0.25677	N	0.985838	D;P;D;D;D;D	0.61697	0.958;0.702;0.99;0.99;0.975;0.958	P;B;P;P;P;P	0.58928	0.622;0.16;0.848;0.848;0.79;0.622	T	0.15292	-1.0442	10	0.66056	D	0.02	-11.8913	14.482	0.67590	0.0:0.0:0.0:1.0	.	927;980;894;945;936;989	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	S	936;989;936;894;980;927;351;945	ENSP00000376484:T936S;ENSP00000271715:T989S;ENSP00000354467:T936S;ENSP00000357856:T894S;ENSP00000386836:T980S;ENSP00000431259:T927S;ENSP00000443547:T351S;ENSP00000418408:T945S	ENSP00000271715:T989S	T	-	1	0	POGZ	149645170	1.000000	0.71417	0.709000	0.30452	0.987000	0.75469	2.755000	0.47540	2.107000	0.64212	0.533000	0.62120	ACA		PASS	0.522	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		12	79	12	79	---	---	---	---
CHTOP	26097	broad.mit.edu	37	1	153610803	153610803	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:153610803C>T	ENST00000368694.3	+	3	410	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CHTOP_ENST00000403433.1_Missense_Mutation_p.T33M|CHTOP_ENST00000368687.1_Missense_Mutation_p.T8M|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368690.3_Missense_Mutation_p.T33M|CHTOP_ENST00000368686.1_5'Flank	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	33					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)	p.T33M(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AAACAGCCGACGCCAGTGAAT	0.428																																						uc001fcm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)ACG>ATG		small protein rich in arginine and glycine							74.0	76.0	75.0					1																	153610803		2203	4300	6503	SO:0001583	missense	26097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	g.chr1:153610803C>T		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.98C>T	1.37:g.153610803C>T	ENSP00000357683:p.Thr33Met					C1orf77_uc001fcn.1_Missense_Mutation_p.T33M|C1orf77_uc001fco.1_Missense_Mutation_p.T8M|C1orf77_uc009woi.1_Missense_Mutation_p.T33M|C1orf77_uc009woj.1_Missense_Mutation_p.T33M	p.T33M	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	410	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		33					D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP	ENST00000368694.3	37	c.98C>T	CCDS1048.1	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562824	0.13498	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687	D;D	0.91740	-2.9;-2.9	5.5	3.22	0.36961	.	0.163924	0.64402	N	0.000003	T	0.58206	0.2106	N	0.04508	-0.205	0.32637	N	0.521224	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.40040	-0.9584	10	0.02654	T	1	.	7.8294	0.29334	0.0:0.1737:0.0:0.8263	.	33;33;33	Q9Y3Y2-4;Q9Y3Y2-3;Q9Y3Y2	.;.;CHTOP_HUMAN	M	33;33;33;8	ENSP00000385228:T33M;ENSP00000357679:T33M	ENSP00000357676:T8M	T	+	2	0	CHTOP	151877427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.521000	0.60532	0.537000	0.28751	-0.302000	0.09304	ACG		PASS	0.428	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607		14	144	14	144	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158259855	158259855	+	Start_Codon_SNP	SNP	A	A	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:158259855A>C	ENST00000368170.3	+	1	280	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	1					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.M1L(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGCAAATGACATGCTGTTTCT	0.438																																						uc001fru.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(1-3)ATG>CTG		CD1C antigen precursor							154.0	128.0	137.0					1																	158259855		2203	4300	6503	SO:0001582	initiator_codon_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158259855A>C	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.1A>C	1.37:g.158259855A>C	ENSP00000357152:p.Met1Leu					CD1C_uc001frv.2_5'Flank	p.M1L	NM_001765	NP_001756	P29017	CD1C_HUMAN			1	293	+	all_hematologic(112;0.0378)		1					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.1A>C	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	12.18	1.859803	0.32884	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.01076	5.37	2.37	2.37	0.29283	.	0.203139	0.24537	N	0.037670	T	0.01976	0.0062	.	.	.	0.80722	D	1	D	0.58970	0.984	D	0.65443	0.935	T	0.52465	-0.8572	9	0.87932	D	0	.	6.7405	0.23433	1.0:0.0:0.0:0.0	.	1	P29017	CD1C_HUMAN	L	1	ENSP00000357152:M1L	ENSP00000357151:M1L	M	+	1	0	CD1C	156526479	0.720000	0.27996	0.386000	0.26170	0.124000	0.20399	2.745000	0.47459	1.350000	0.45770	0.449000	0.29647	ATG		PASS	0.438	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765	Missense_Mutation	35	127	35	127	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158590102	158590102	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:158590102A>T	ENST00000368147.4	-	44	6455	c.6275T>A	c.(6274-6276)cTg>cAg	p.L2092Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2092					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L2092Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCCTAGCCAGGGAGGCCAA	0.493																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6274-6276)CTG>CAG		spectrin, alpha, erythrocytic 1							77.0	74.0	75.0					1																	158590102		1924	4123	6047	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158590102A>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6275T>A	1.37:g.158590102A>T	ENSP00000357129:p.Leu2092Gln						p.L2092Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			44	6474	-	all_hematologic(112;0.0378)		2092			Spectrin 20.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6275T>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717044	0.68844	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.60040	0.22;0.22	5.05	5.05	0.67936	.	0.418937	0.14297	N	0.328519	T	0.66346	0.2780	M	0.62016	1.91	0.34101	D	0.661865	D	0.89917	1.0	D	0.77004	0.989	T	0.70288	-0.4913	10	0.87932	D	0	.	13.7636	0.62981	1.0:0.0:0.0:0.0	.	2092	P02549	SPTA1_HUMAN	Q	2092;2089	ENSP00000357130:L2092Q;ENSP00000357129:L2089Q	ENSP00000357129:L2089Q	L	-	2	0	SPTA1	156856726	1.000000	0.71417	0.018000	0.16275	0.631000	0.37964	8.511000	0.90535	2.119000	0.64992	0.477000	0.44152	CTG		PASS	0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		25	96	25	96	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197030071	197030071	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:197030071C>G	ENST00000367412.1	-	4	629	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	196	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.E196Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTGAGACATTCTACCTCCTCT	0.398																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(586-588)GAA>CAA		coagulation factor XIII B subunit precursor							249.0	226.0	234.0					1																	197030071		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030071C>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.586G>C	1.37:g.197030071C>G	ENSP00000356382:p.Glu196Gln						p.E196Q	NM_001994	NP_001985	P05160	F13B_HUMAN			4	630	-			196			Sushi 3.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.586G>C	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533723	0.45073	.	.	ENSG00000143278	ENST00000367412	T	0.64260	-0.09	6.03	4.02	0.46733	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.45196	0.1330	N	0.21545	0.675	0.09310	N	1	B	0.33448	0.412	B	0.37387	0.248	T	0.32107	-0.9919	9	0.02654	T	1	.	11.2386	0.48955	0.0:0.7174:0.2135:0.0691	.	196	P05160	F13B_HUMAN	Q	196	ENSP00000356382:E196Q	ENSP00000356382:E196Q	E	-	1	0	F13B	195296694	0.000000	0.05858	0.230000	0.23976	0.030000	0.12068	-0.028000	0.12350	2.868000	0.98415	0.557000	0.71058	GAA		PASS	0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		34	165	34	165	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238053451	238053451	+	Silent	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:238053451C>A	ENST00000366570.4	-	2	359	c.201G>T	c.(199-201)ctG>ctT	p.L67L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	67					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.L67L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTCATTCTGCAGCTCGTGCA	0.557																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(199-201)CTG>CTT		zona pellucida glycoprotein 4 preproprotein							85.0	78.0	80.0					1																	238053451		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053451C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.201G>T	1.37:g.238053451C>A						LOC100130331_uc010pyc.1_Intron	p.L67L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	201	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	67			Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.201G>T	CCDS1615.1																																																																																				PASS	0.557	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			9	127	9	127	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243507555	243507555	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:243507555C>A	ENST00000366541.3	+	12	1513	c.1395C>A	c.(1393-1395)aaC>aaA	p.N465K	MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.N320K|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.N422K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	465	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.N465K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATAAAACCAACATGGAGAAGG	0.413																																						uc001hzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1393-1395)AAC>AAA		serologically defined colon cancer antigen 8							112.0	108.0	109.0					1																	243507555		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507555C>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1395C>A	1.37:g.243507555C>A	ENSP00000355499:p.Asn465Lys					SDCCAG8_uc010pyk.1_Missense_Mutation_p.N320K|SDCCAG8_uc010pyl.1_Missense_Mutation_p.N277K|SDCCAG8_uc001hzx.2_Missense_Mutation_p.N277K	p.N465K	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	12	1551	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	465			Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1395C>A	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	0.259	-1.001246	0.02128	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.39406	1.09;1.08;1.12;1.08	6.07	2.48	0.30137	.	0.282758	0.39475	N	0.001356	T	0.12092	0.0294	N	0.01352	-0.895	0.29084	N	0.882512	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34477	-0.9827	10	0.02654	T	1	-5.1664	8.2451	0.31684	0.6697:0.2644:0.0659:0.0	.	422;465	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	422;465;320;245	ENSP00000348137:N422K;ENSP00000355499:N465K;ENSP00000341260:N320K;ENSP00000410200:N245K	ENSP00000341260:N320K	N	+	3	2	SDCCAG8	241574178	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.843000	0.39259	0.506000	0.28125	-0.485000	0.04761	AAC		PASS	0.413	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		21	71	21	71	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343396	248343396	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:248343396G>A	ENST00000359682.2	+	1	109	c.109G>A	c.(109-111)Gtg>Atg	p.V37M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCTTTTTAGTGGCCTTCAT	0.517																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(109-111)GTG>ATG		olfactory receptor, family 2, subfamily M,							290.0	276.0	281.0					1																	248343396		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343396G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.109G>A	1.37:g.248343396G>A	ENSP00000352710:p.Val37Met						p.V37M	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	109	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		37			Helical; Name=1; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.109G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	1.903	-0.452555	0.04540	.	.	ENSG00000198601	ENST00000359682	T	0.00601	6.29	2.03	-0.146	0.13432	.	0.804728	0.09677	U	0.770291	T	0.00384	0.0012	N	0.20881	0.62	0.09310	N	1	B	0.32338	0.365	B	0.32090	0.14	T	0.34054	-0.9844	10	0.06757	T	0.87	.	3.0747	0.06242	0.2217:0.0:0.3945:0.3837	.	37	Q96R28	OR2M2_HUMAN	M	37	ENSP00000352710:V37M	ENSP00000352710:V37M	V	+	1	0	OR2M2	246410019	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-3.881000	0.00343	0.171000	0.19730	0.454000	0.30748	GTG		PASS	0.517	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		109	372	109	372	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48898734	48898734	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:48898734C>T	ENST00000403751.3	+	8	1281	c.1244C>T	c.(1243-1245)cCt>cTt	p.P415L	LHCGR_ENST00000420913.3_5'Flank|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.P381L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P1119L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P1119L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P1119L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P1072L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P1119L	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	415					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P64L(2)|p.P1119L(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTAGGACCCTTTAAATTCT	0.348																																						uc010yol.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(3214-3216)CCT>CTT		stonin 1							191.0	182.0	185.0					2																	48898734		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48898734C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1244C>T	2.37:g.48898734C>T	ENSP00000384597:p.Pro415Leu					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P1119L|GTF2A1L_uc002rws.1_Missense_Mutation_p.P415L|GTF2A1L_uc010yom.1_Missense_Mutation_p.P381L|GTF2A1L_uc002rwt.2_Missense_Mutation_p.P415L	p.P1072L	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3262	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1072					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.3215C>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958540	0.92726	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751;ENST00000508440	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.89	5.89	0.94794	.	0.497877	0.23789	N	0.044542	T	0.71307	0.3324	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.925;0.999	T	0.75113	-0.3432	10	0.87932	D	0	.	18.8181	0.92085	0.0:1.0:0.0:0.0	.	381;1072;1119;415;1119	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	L	1119;1119;1119;1119;1072;414;381;415;64	ENSP00000385499:P1119L;ENSP00000385701:P1119L;ENSP00000378236:P1119L;ENSP00000311493:P1119L;ENSP00000378234:P1072L;ENSP00000387896:P381L;ENSP00000384597:P415L;ENSP00000421474:P64L	ENSP00000384597:P415L	P	+	2	0	STON1-GTF2A1L;GTF2A1L	48752238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.401000	0.79962	2.794000	0.96219	0.655000	0.94253	CCT		PASS	0.348	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		53	212	53	212	---	---	---	---
MDH1	4190	broad.mit.edu	37	2	63834097	63834097	+	Silent	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:63834097T>A	ENST00000233114.8	+	9	1416	c.981T>A	c.(979-981)gcT>gcA	p.A327A	MDH1_ENST00000539945.1_Silent_p.A345A|MDH1_ENST00000544381.1_Silent_p.A238A|MDH1_ENST00000394423.1_Silent_p.A327A|MDH1_ENST00000409908.1_Silent_p.A162A|MDH1_ENST00000409476.1_Silent_p.A203A	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	327					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)	p.A327A(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						AAGAAAGTGCTTTTGAATTTC	0.358																																						uc002scj.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)	2						c.(979-981)GCT>GCA		cytosolic malate dehydrogenase	NADH(DB00157)						72.0	71.0	71.0					2																	63834097		2203	4300	6503	SO:0001819	synonymous_variant	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63834097T>A		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.981T>A	2.37:g.63834097T>A						MDH1_uc010ypv.1_Silent_p.A345A|MDH1_uc010ypw.1_Silent_p.A232A	p.A327A	NM_005917	NP_005908	P40925	MDHC_HUMAN			9	1037	+			327					B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Silent	SNP	ENST00000233114.8	37	c.981T>A	CCDS1874.1																																																																																				PASS	0.358	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			39	122	39	122	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71607682	71607682	+	Silent	SNP	T	T	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:71607682T>G	ENST00000409544.1	+	10	2994	c.2364T>G	c.(2362-2364)acT>acG	p.T788T	RNU6-105P_ENST00000363909.1_RNA|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.T788T|ZNF638_ENST00000355812.3_Silent_p.T788T|ZNF638_ENST00000377802.2_Silent_p.T788T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	788					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T788T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAATTGTTACTTCAACTTCTG	0.308																																						uc002shx.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(2362-2364)ACT>ACG		zinc finger protein 638							66.0	61.0	63.0					2																	71607682		2201	4296	6497	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71607682T>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2364T>G	2.37:g.71607682T>G						ZNF638_uc010fec.2_Silent_p.T894T|ZNF638_uc010yqw.1_Silent_p.T367T|ZNF638_uc002shw.2_Silent_p.T788T|ZNF638_uc002shy.2_Silent_p.T788T|ZNF638_uc002shz.2_Silent_p.T788T|ZNF638_uc002sia.2_Silent_p.T788T|ZNF638_uc002sib.1_Silent_p.T788T|ZNF638_uc010fed.2_RNA	p.T788T	NM_014497	NP_055312	Q14966	ZN638_HUMAN			10	2683	+			788					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.2364T>G	CCDS1917.1																																																																																				PASS	0.308	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		25	137	25	137	---	---	---	---
IGKV1-17	28937	broad.mit.edu	37	2	89417279	89417279	+	RNA	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:89417279C>T	ENST00000490686.1	-	0	56									immunoglobulin kappa variable 1-17																		GCAGGAGCCCCAGGAGCTGAG	0.532																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							141.0	146.0	145.0					2																	89417279		1891	4117	6008			0							g.chr2:89417279C>T	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89417279C>T						uc002stl.2_Intron								41		-									RNA	SNP	ENST00000490686.1	37	c.4448G>A																																																																																					PASS	0.532	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		58	329	58	329	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139308568	139308568	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:139308568G>C	ENST00000280098.4	+	4	675	c.296G>C	c.(295-297)cGa>cCa	p.R99P		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	99	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.R99P(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGTGAAGTTCGAGCAAAATTC	0.368																																						uc002tvh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(295-297)CGA>CCA		speckle-type POZ protein-like							71.0	76.0	74.0					2																	139308568		2203	4299	6502	SO:0001583	missense	339745					nucleus		g.chr2:139308568G>C		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.296G>C	2.37:g.139308568G>C	ENSP00000280098:p.Arg99Pro						p.R99P	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	4	696	+			99			MATH.			Missense_Mutation	SNP	ENST00000280098.4	37	c.296G>C	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531118	0.85706	.	.	ENSG00000144228	ENST00000280098	T	0.42131	0.98	5.48	5.48	0.80851	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70967	-0.4728	10	0.59425	D	0.04	-16.8133	19.7077	0.96081	0.0:0.0:1.0:0.0	.	99	Q6IQ16	SPOPL_HUMAN	P	99	ENSP00000280098:R99P	ENSP00000280098:R99P	R	+	2	0	SPOPL	139025038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.714000	0.92807	0.650000	0.86243	CGA		PASS	0.368	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			38	178	38	178	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179409130	179409130	+	Silent	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:179409130T>A	ENST00000591111.1	-	295	91127	c.90903A>T	c.(90901-90903)gtA>gtT	p.V30301V	TTN_ENST00000460472.2_Silent_p.V22877V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V23069V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.V31942V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.V29374V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.V23002V			Q8WZ42	TITIN_HUMAN	titin	30301	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V22877V(1)|p.V29374V(1)|p.V23069V(1)|p.V29372V(1)|p.V23002V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACATATCCTACAATGTCAG	0.463																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(88120-88122)GTA>GTT		titin isoform N2-A							142.0	129.0	133.0					2																	179409130		1977	4162	6139	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179409130T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90903A>T	2.37:g.179409130T>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V23069V|TTN_uc010zfi.1_Silent_p.V23002V|TTN_uc010zfj.1_Silent_p.V22877V	p.V29374V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	88346	-			30301					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.88122A>T																																																																																					PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	111	20	111	---	---	---	---
TMEFF2	23671	broad.mit.edu	37	2	193049091	193049091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:193049091G>T	ENST00000272771.5	-	3	1585	c.401C>A	c.(400-402)tCa>tAa	p.S134*	TMEFF2_ENST00000409056.3_Nonsense_Mutation_p.S134*|TMEFF2_ENST00000392314.1_Nonsense_Mutation_p.S134*	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	134	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.S134*(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TGTGGCACATGATCCTTCTGA	0.443																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(400-402)TCA>TAA		transmembrane protein with EGF-like and two							213.0	177.0	189.0					2																	193049091		2203	4300	6503	SO:0001587	stop_gained	23671					extracellular region|integral to membrane		g.chr2:193049091G>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.401C>A	2.37:g.193049091G>T	ENSP00000272771:p.Ser134*					TMEFF2_uc002utd.1_Nonsense_Mutation_p.S134*	p.S134*	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		3	795	-			134			Kazal-like 1.|Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Nonsense_Mutation	SNP	ENST00000272771.5	37	c.401C>A	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870285	0.97049	.	.	ENSG00000144339	ENST00000392314;ENST00000272771;ENST00000409056	.	.	.	5.76	5.76	0.90799	.	0.072865	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.908	19.9699	0.97282	0.0:0.0:1.0:0.0	.	.	.	.	X	134	.	ENSP00000272771:S134X	S	-	2	0	TMEFF2	192757336	1.000000	0.71417	0.984000	0.44739	0.957000	0.61999	6.344000	0.72991	2.730000	0.93505	0.591000	0.81541	TCA		PASS	0.443	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		46	154	46	154	---	---	---	---
AC010731.4	0	broad.mit.edu	37	2	207509208	207509208	+	lincRNA	SNP	A	A	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:207509208A>T	ENST00000543490.1	+	0	423																											AAGTCATCTGAGAACTTGAAG	0.488																																						uc010fuh.1																			0					0						c.(247-249)GAG>GTG		hypothetical protein LOC200726							81.0	81.0	81.0					2																	207509208		1928	4142	6070			200726							g.chr2:207509208A>T																													2.37:g.207509208A>T							p.E83V	NM_001102659	NP_001096129				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)	2	423	+									Missense_Mutation	SNP	ENST00000543490.1	37	c.248A>T																																																																																					PASS	0.488	AC010731.4-201	KNOWN	basic	lincRNA	lincRNA				21	80	21	80	---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207558005	207558005	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:207558005T>C	ENST00000452335.2	-	9	990	c.874A>G	c.(874-876)Aga>Gga	p.R292G		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	292						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R292G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGGTTGTTTCTGAGGGTCCTG	0.498																																						uc002vbr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(874-876)AGA>GGA		dystrotelin							85.0	82.0	83.0					2																	207558005		1938	4153	6091	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207558005T>C	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.874A>G	2.37:g.207558005T>C	ENSP00000396593:p.Arg292Gly						p.R292G	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	9	991	-			292						Missense_Mutation	SNP	ENST00000452335.2	37	c.874A>G	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957869	0.53400	.	.	ENSG00000232125	ENST00000452335	T	0.19105	2.17	5.31	4.13	0.48395	.	.	.	.	.	T	0.25232	0.0613	L	0.29908	0.895	0.30405	N	0.779678	D	0.59767	0.986	P	0.53266	0.722	T	0.08638	-1.0712	9	0.72032	D	0.01	-2.6408	10.8872	0.46974	0.0:0.0:0.2997:0.7003	.	292	A2CJ06	DYTN_HUMAN	G	292	ENSP00000396593:R292G	ENSP00000396593:R292G	R	-	1	2	DYTN	207266250	1.000000	0.71417	0.993000	0.49108	0.606000	0.37113	1.369000	0.34227	1.000000	0.39049	0.454000	0.30748	AGA		PASS	0.498	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			16	108	16	108	---	---	---	---
CYP27A1	1593	broad.mit.edu	37	2	219679704	219679704	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr2:219679704T>A	ENST00000258415.4	+	9	1974	c.1547T>A	c.(1546-1548)cTg>cAg	p.L516Q		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	516					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.L516Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CGCATTGTCCTGGTTCCCAAT	0.592																																						uc002viz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1546-1548)CTG>CAG		cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)						124.0	113.0	116.0					2																	219679704		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679704T>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1547T>A	2.37:g.219679704T>A	ENSP00000258415:p.Leu516Gln						p.L516Q	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	9	1981	+		Renal(207;0.0474)	516					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.1547T>A	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494479	0.85069	.	.	ENSG00000135929	ENST00000258415	T	0.72615	-0.67	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000001	D	0.85881	0.5800	M	0.90425	3.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.88324	0.2964	10	0.56958	D	0.05	-11.1075	13.5057	0.61483	0.0:0.0:0.0:1.0	.	516	Q02318	CP27A_HUMAN	Q	516	ENSP00000258415:L516Q	ENSP00000258415:L516Q	L	+	2	0	CYP27A1	219387948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.099000	0.71466	1.917000	0.55516	0.533000	0.62120	CTG		PASS	0.592	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			27	103	27	103	---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128696888	128696888	+	Splice_Site	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr3:128696888C>G	ENST00000265068.5	-	5	975	c.808G>C	c.(808-810)Ggt>Cgt	p.G270R	KIAA1257_ENST00000511438.1_Splice_Site_p.G270R|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Splice_Site_p.G158R	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	270								p.G270R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTCCGCTCACCTTGCAAAGAC	0.507																																						uc003elj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GGT>CGT		hypothetical protein LOC57501							167.0	176.0	173.0					3																	128696888		2120	4215	6335	SO:0001630	splice_region_variant	57501							g.chr3:128696888C>G	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.808+1G>C	3.37:g.128696888C>G						KIAA1257_uc003elg.1_Missense_Mutation_p.G270R|KIAA1257_uc003eli.3_Missense_Mutation_p.G158R	p.G270R	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN			5	1004	-			270					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.808G>C	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063947	0.76187	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.23	3.23	0.37069	.	1.134190	0.06706	N	0.772235	T	0.47655	0.1457	N	0.19112	0.55	0.26694	N	0.971304	D;D	0.67145	0.996;0.996	D;D	0.66847	0.929;0.947	T	0.44817	-0.9303	8	.	.	.	-0.9765	10.2104	0.43136	0.0:1.0:0.0:0.0	.	270;270	Q9ULG3;D6RH05	K1257_HUMAN;.	R	270;270;158	.	.	G	-	1	0	KIAA1257	130179578	0.906000	0.30813	0.821000	0.32701	0.482000	0.33219	1.655000	0.37345	2.119000	0.64992	0.467000	0.42956	GGT		PASS	0.507	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741	Missense_Mutation	16	130	16	130	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170784432	170784432	+	Silent	SNP	A	A	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr3:170784432A>G	ENST00000436636.2	-	31	4136	c.3792T>C	c.(3790-3792)taT>taC	p.Y1264Y	TNIK_ENST00000460047.1_Silent_p.Y1201Y|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000369326.5_Silent_p.Y1242Y|TNIK_ENST00000475336.1_Silent_p.Y1172Y|TNIK_ENST00000488470.1_Silent_p.Y1209Y|TNIK_ENST00000341852.6_Silent_p.Y1180Y|TNIK_ENST00000284483.8_Silent_p.Y1256Y|TNIK_ENST00000470834.1_Silent_p.Y1227Y|TNIK_ENST00000357327.5_Silent_p.Y1235Y|TNIK_ENST00000538048.1_Silent_p.Y1216Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1264	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Y1264Y(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGGTGTTTACATACACCCCCT	0.453																																						uc003fhh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(3790-3792)TAT>TAC		TRAF2 and NCK interacting kinase isoform 1							118.0	111.0	113.0					3																	170784432		1930	4142	6072	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170784432A>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3792T>C	3.37:g.170784432A>G						TNIK_uc003fhi.2_Silent_p.Y1209Y|TNIK_uc003fhj.2_Silent_p.Y1235Y|TNIK_uc003fhk.2_Silent_p.Y1256Y|TNIK_uc003fhl.2_Silent_p.Y1180Y|TNIK_uc003fhm.2_Silent_p.Y1201Y|TNIK_uc003fhn.2_Silent_p.Y1227Y|TNIK_uc003fho.2_Silent_p.Y1172Y|TNIK_uc003fhg.2_Silent_p.Y442Y|TNIK_uc003fhp.2_Silent_p.Y196Y	p.Y1264Y	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		31	4137	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1264			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.3792T>C	CCDS46956.1																																																																																				PASS	0.453	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		60	155	60	155	---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197579450	197579450	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr3:197579450C>G	ENST00000425562.2	+	13	1549	c.1549C>G	c.(1549-1551)Cca>Gca	p.P517A	LRCH3_ENST00000536618.1_Missense_Mutation_p.P112A|LRCH3_ENST00000334859.4_Missense_Mutation_p.P517A|LRCH3_ENST00000414675.2_Missense_Mutation_p.P489A|LRCH3_ENST00000441090.2_Missense_Mutation_p.P363A|LRCH3_ENST00000438796.2_Missense_Mutation_p.P517A			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	517						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.P517A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ATCACAAAGTCCACAAAAACA	0.373																																						uc011bul.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1549-1551)CCA>GCA		leucine-rich repeats and calponin homology (CH)							150.0	155.0	153.0					3																	197579450		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197579450C>G	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1549C>G	3.37:g.197579450C>G	ENSP00000393579:p.Pro517Ala					LRCH3_uc003fyj.1_Missense_Mutation_p.P517A|LRCH3_uc011bum.1_Missense_Mutation_p.P489A|LRCH3_uc011bun.1_Missense_Mutation_p.P363A|LRCH3_uc003fyk.2_Missense_Mutation_p.P112A	p.P517A	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	13	1554	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		517					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1549C>G		.	.	.	.	.	.	.	.	.	.	C	14.13	2.444942	0.43429	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298	T;T;T;T;T;T;T;T	0.57436	2.09;1.43;2.01;2.34;2.11;0.8;0.68;0.4	5.56	4.68	0.58851	.	0.137479	0.50627	D	0.000119	T	0.39682	0.1087	L	0.34521	1.04	0.28664	N	0.905985	P;P;P;P;P	0.42649	0.786;0.696;0.69;0.563;0.51	B;B;B;B;B	0.42343	0.323;0.214;0.384;0.254;0.228	T	0.26608	-1.0098	10	0.07325	T	0.83	-5.5079	11.8787	0.52562	0.1745:0.8255:0.0:0.0	.	363;489;517;517;517	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	A	517;363;489;517;517;112;28;14	ENSP00000399751:P517A;ENSP00000394609:P363A;ENSP00000394965:P489A;ENSP00000334375:P517A;ENSP00000393579:P517A;ENSP00000439083:P112A;ENSP00000395309:P28A;ENSP00000400164:P14A	ENSP00000334375:P517A	P	+	1	0	LRCH3	199063847	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.846000	0.39289	1.331000	0.45412	0.650000	0.86243	CCA		PASS	0.373	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		28	320	28	320	---	---	---	---
MED28	80306	broad.mit.edu	37	4	17616310	17616310	+	Silent	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr4:17616310G>T	ENST00000237380.7	+	1	57	c.33G>T	c.(31-33)ggG>ggT	p.G11G	AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	11					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)		p.G11G(1)		lung(6)|skin(2)	8						TGTTTTCTGGGCAGCCACCCG	0.647																																						uc003gpi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)GGG>GGT		mediator complex subunit 28							26.0	33.0	30.0					4																	17616310		2202	4299	6501	SO:0001819	synonymous_variant	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17616310G>T	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.33G>T	4.37:g.17616310G>T						MED28_uc003gpj.2_RNA	p.G11G	NM_025205	NP_079481	Q9H204	MED28_HUMAN			1	45	+			11					Q9BZJ5	Silent	SNP	ENST00000237380.7	37	c.33G>T	CCDS33963.1																																																																																				PASS	0.647	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		17	67	17	67	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89950644	89950644	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr4:89950644C>T	ENST00000264344.5	-	2	391	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	FAM13A_ENST00000509094.1_Missense_Mutation_p.V62M|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_De_novo_Start_OutOfFrame|FAM13A_ENST00000515600.1_Missense_Mutation_p.V62M	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	62	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V62M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ATATTCCACACTACTGCTGGA	0.398																																						uc003hse.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(184-186)GTG>ATG		family with sequence similarity 13, member A1							159.0	155.0	156.0					4																	89950644		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89950644C>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.184G>A	4.37:g.89950644C>T	ENSP00000264344:p.Val62Met					FAM13A_uc003hsf.1_Translation_Start_Site|FAM13A_uc003hsh.1_Translation_Start_Site|FAM13A_uc003hsi.2_Missense_Mutation_p.V62M|FAM13A_uc003hsj.2_Missense_Mutation_p.V62M	p.V62M	NM_014883	NP_055698	O94988	FA13A_HUMAN			2	392	-			62			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.184G>A	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437214	0.62955	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600;ENST00000506913	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	3.83	3.83	0.44106	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.171581	0.37348	N	0.002134	T	0.54029	0.1833	M	0.83483	2.645	0.47862	D	0.999537	D;D	0.76494	0.999;0.985	D;D	0.79108	0.992;0.934	T	0.61217	-0.7107	9	.	.	.	.	17.0484	0.86511	0.0:1.0:0.0:0.0	.	62;62	Q6P521;O94988	.;FA13A_HUMAN	M	62;62;62;72	ENSP00000264344:V62M;ENSP00000426517:V62M;ENSP00000422345:V62M;ENSP00000421269:V72M	.	V	-	1	0	FAM13A	90169667	0.996000	0.38824	0.682000	0.30024	0.016000	0.09150	3.448000	0.52943	2.441000	0.82636	0.655000	0.94253	GTG		PASS	0.398	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			57	183	57	183	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183601476	183601476	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr4:183601476G>A	ENST00000511685.1	+	9	1736	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	TENM3_ENST00000406950.2_Missense_Mutation_p.G538E			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	538	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.G538E(1)									TGTTTTCCAGGATTTCTGGGT	0.413																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1612-1614)GGA>GAA		odz, odd Oz/ten-m homolog 3							144.0	131.0	135.0					4																	183601476		1862	4105	5967	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183601476G>A	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.1613G>A	4.37:g.183601476G>A	ENSP00000424226:p.Gly538Glu					ODZ3_uc003ive.1_5'UTR	p.G538E	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)	8	1650	+		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)	538			Extracellular (Potential).|EGF-like 1.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1613G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433238	0.83776	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.25579	1.79;1.79	5.37	5.37	0.77165	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.63189	0.2490	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72067	-0.4402	9	0.87932	D	0	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	538	Q9P273	TEN3_HUMAN	E	538	ENSP00000424226:G538E;ENSP00000385276:G538E	ENSP00000385276:G538E	G	+	2	0	ODZ3	183838470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.793000	0.96121	0.563000	0.77884	GGA		PASS	0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			14	45	14	45	---	---	---	---
MTMR12	54545	broad.mit.edu	37	5	32243668	32243668	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:32243668C>G	ENST00000382142.3	-	11	1229	c.1059G>C	c.(1057-1059)tgG>tgC	p.W353C	MTMR12_ENST00000264934.5_Missense_Mutation_p.W353C|MTMR12_ENST00000280285.5_Missense_Mutation_p.W353C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	353	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.W353C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAGAAAACCATTTTATAT	0.343																																						uc003jhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1057-1059)TGG>TGC		myotubularin related protein 12							104.0	105.0	105.0					5																	32243668		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32243668C>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1059G>C	5.37:g.32243668C>G	ENSP00000371577:p.Trp353Cys					MTMR12_uc010iuk.2_Missense_Mutation_p.W353C|MTMR12_uc010iul.2_Missense_Mutation_p.W353C	p.W353C	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			11	1229	-			353			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1059G>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511871	0.85389	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.93859	-3.3;-3.3;-3.3	5.91	5.91	0.95273	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.942	D	0.97698	1.0183	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	353;353;353	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	C	353	ENSP00000280285:W353C;ENSP00000371577:W353C;ENSP00000264934:W353C	ENSP00000264934:W353C	W	-	3	0	MTMR12	32279425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.214000	0.72200	2.793000	0.96121	0.655000	0.94253	TGG		PASS	0.343	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		37	119	37	119	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86685301	86685301	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:86685301C>G	ENST00000274376.6	+	24	3581	c.3017C>G	c.(3016-3018)tCa>tGa	p.S1006*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.S839*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.S829*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S840*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	1006					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.S1006*(1)|p.S829*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTGGCTCATTCAGATGAACTT	0.458																																						uc003kiw.2																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(3016-3018)TCA>TGA		RAS p21 protein activator 1 isoform 1							160.0	145.0	150.0					5																	86685301		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86685301C>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.3017C>G	5.37:g.86685301C>G	ENSP00000274376:p.Ser1006*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.S829*|RASA1_uc011ctv.1_Nonsense_Mutation_p.S839*|RASA1_uc011ctw.1_Nonsense_Mutation_p.S840*|RASA1_uc010jaw.2_Nonsense_Mutation_p.S828*	p.S1006*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	24	3135	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	1006					B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.3017C>G	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	41	8.974298	0.99021	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9262	0.97102	0.0:1.0:0.0:0.0	.	.	.	.	X	1006;829;839;840	.	ENSP00000274376:S1006X	S	+	2	0	RASA1	86721057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.267000	0.78462	2.716000	0.92895	0.585000	0.79938	TCA		PASS	0.458	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		58	176	58	176	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134015299	134015299	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:134015299C>T	ENST00000398844.2	+	8	1550	c.1262C>T	c.(1261-1263)cCt>cTt	p.P421L	SEC24A_ENST00000322887.4_Missense_Mutation_p.P421L	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	421					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.P421L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCAATTGCCTGTGGTTACC	0.363																																						uc003kzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)CCT>CTT		SEC24 related gene family, member A							138.0	124.0	129.0					5																	134015299		1847	4091	5938	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134015299C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1262C>T	5.37:g.134015299C>T	ENSP00000381823:p.Pro421Leu					SEC24A_uc011cxu.1_Missense_Mutation_p.P185L	p.P421L	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1550	+			421					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.1262C>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944043	0.92593	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.29142	1.58;1.58	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.955	T	0.75051	-0.3454	10	0.72032	D	0.01	-10.601	18.773	0.91899	0.0:1.0:0.0:0.0	.	185;421	B4E205;O95486	.;SC24A_HUMAN	L	421	ENSP00000381823:P421L;ENSP00000321749:P421L	ENSP00000321749:P421L	P	+	2	0	SEC24A	134043198	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.563000	0.82314	2.679000	0.91253	0.555000	0.69702	CCT		PASS	0.363	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			47	140	47	140	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564054	140564054	+	Silent	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:140564054G>A	ENST00000361016.2	+	1	3075	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L640L(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGAGGCTGGTGGTGCTGG	0.701																																						uc003liv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1918-1920)CTG>CTA		protocadherin beta 16 precursor							24.0	26.0	25.0					5																	140564054		2006	3981	5987	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564054G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1920G>A	5.37:g.140564054G>A						PCDHB9_uc003liw.1_5'Flank	p.L640L	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3075	+			640			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1920G>A	CCDS4251.1																																																																																				PASS	0.701	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		9	16	9	16	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594628	140594628	+	Silent	SNP	A	A	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:140594628A>G	ENST00000341948.4	+	1	1120	c.933A>G	c.(931-933)gaA>gaG	p.E311E		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	311	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E311E(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGATTTCGAAAAACTTCAGT	0.378																																						uc003lja.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(931-933)GAA>GAG		protocadherin beta 13 precursor							106.0	111.0	110.0					5																	140594628		2203	4300	6503	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594628A>G	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.933A>G	5.37:g.140594628A>G							p.E311E	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1120	+			311			Cadherin 3.|Extracellular (Potential).		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.933A>G	CCDS4255.1																																																																																				PASS	0.378	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		37	231	37	231	---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140625809	140625809	+	Silent	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:140625809C>G	ENST00000231173.3	+	1	663	c.663C>G	c.(661-663)ccC>ccG	p.P221P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P221P(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTCCACCCCGATCTGGCA	0.592																																						uc003lje.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(661-663)CCC>CCG		protocadherin beta 15 precursor							53.0	52.0	52.0					5																	140625809		2203	4300	6503	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625809C>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.663C>G	5.37:g.140625809C>G							p.P221P	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	663	+			221			Extracellular (Potential).|Cadherin 2.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.663C>G	CCDS4257.1																																																																																				PASS	0.592	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		14	36	14	36	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720501	140720501	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:140720501T>C	ENST00000394576.2	+	1	1963	c.1963T>C	c.(1963-1965)Tcc>Ccc	p.S655P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S655P(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCCTCTCTCCGCCACTGT	0.701																																						uc003ljk.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1963-1965)TCC>CCC		protocadherin gamma subfamily A, 2 isoform 1							37.0	45.0	42.0					5																	140720501		2201	4297	6498	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720501T>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1963T>C	5.37:g.140720501T>C	ENSP00000378077:p.Ser655Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S655P	p.S655P	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2148	+			655			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1963T>C	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.941910	0.53079	.	.	ENSG00000081853	ENST00000394576	T	0.55588	0.51	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.40144	U	0.001175	D	0.83982	0.5372	H	0.99299	4.505	0.39779	D	0.972277	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.91400	0.5142	10	0.87932	D	0	.	14.99	0.71381	0.0:0.0:0.0:1.0	.	655;655	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	P	655	ENSP00000378077:S655P	ENSP00000378077:S655P	S	+	1	0	PCDHGA2	140700685	1.000000	0.71417	0.988000	0.46212	0.016000	0.09150	7.287000	0.78681	2.093000	0.63338	0.397000	0.26171	TCC		PASS	0.701	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		18	26	18	26	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140750023	140750023	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:140750023T>C	ENST00000576222.1	+	1	193	c.62T>C	c.(61-63)cTg>cCg	p.L21P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	21					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCTTCCTGCTCTCTTTG	0.582																																						uc003ljw.1																			0					0						c.(61-63)CTG>CCG		protocadherin gamma subfamily B, 3 isoform 1							49.0	57.0	55.0					5																	140750023		1888	4108	5996	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750023T>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.62T>C	5.37:g.140750023T>C	ENSP00000461862:p.Leu21Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.L21P	p.L21P	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	62	+			21					A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.62T>C	CCDS58980.1																																																																																				PASS	0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		17	61	17	61	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156932793	156932793	+	Silent	SNP	G	G	T	rs374425944		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:156932793G>T	ENST00000517905.1	-	11	1058	c.1014C>A	c.(1012-1014)ggC>ggA	p.G338G	ADAM19_ENST00000257527.4_Silent_p.G338G|ADAM19_ENST00000430702.2_Silent_p.G71G|ADAM19_ENST00000394020.1_Silent_p.G340G			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	338	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G339G(1)|p.G338G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCAGCCACGCCAATGGCAT	0.582																																						uc003lwz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1012-1014)GGC>GGA		ADAM metallopeptidase domain 19 preproprotein							52.0	41.0	44.0					5																	156932793		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156932793G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1014C>A	5.37:g.156932793G>T						ADAM19_uc003lww.1_Silent_p.G71G|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Silent_p.G269G	p.G338G	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		11	1078	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	338			Peptidase M12B.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.1014C>A																																																																																					PASS	0.582	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		8	18	8	18	---	---	---	---
RARS	5917	broad.mit.edu	37	5	167944983	167944983	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:167944983C>G	ENST00000231572.3	+	14	1843	c.1789C>G	c.(1789-1791)Ctc>Gtc	p.L597V	RARS_ENST00000538719.1_Missense_Mutation_p.L391V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	597					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.L597V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TCTCCACACTCTCTGTGATTA	0.398																																						uc003lzx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1789-1791)CTC>GTC		arginyl-tRNA synthetase							78.0	80.0	79.0					5																	167944983		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167944983C>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1789C>G	5.37:g.167944983C>G	ENSP00000231572:p.Leu597Val					RARS_uc011deo.1_Missense_Mutation_p.L391V	p.L597V	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	14	1830	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	597					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.1789C>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300621	0.81136	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.77489	-1.1;-1.1	5.37	5.37	0.77165	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.73217	2.22	0.80722	D	1	D	0.55172	0.97	D	0.63283	0.913	D	0.87595	0.2493	10	0.59425	D	0.04	-12.0443	19.0953	0.93248	0.0:1.0:0.0:0.0	.	597	P54136	SYRC_HUMAN	V	597;391	ENSP00000231572:L597V;ENSP00000439108:L391V	ENSP00000231572:L597V	L	+	1	0	RARS	167877561	1.000000	0.71417	0.845000	0.33349	0.998000	0.95712	5.735000	0.68587	2.502000	0.84385	0.655000	0.94253	CTC		PASS	0.398	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		31	115	31	115	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170351426	170351426	+	Missense_Mutation	SNP	C	C	T	rs369051193		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr5:170351426C>T	ENST00000523189.1	+	12	1504	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	447					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.T447M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTGTGCACGGTCAGCAGA	0.413			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1339-1341)ACG>ATG		RAN binding protein 17		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	143.0	128.0	133.0		1340	6.2	1.0	5		133	0,8600		0,0,4300	no	missense	RANBP17	NM_022897.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	447/1089	170351426	1,13005	2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170351426C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1340C>T	5.37:g.170351426C>T	ENSP00000427975:p.Thr447Met					RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	p.T447M	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	1356	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	447					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1340C>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	c	31	5.099555	0.94197	2.27E-4	0.0	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.32023	1.47	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.61274	0.2334	M	0.86502	2.82	0.52501	D	0.999954	D	0.89917	1.0	D	0.64595	0.927	T	0.57452	-0.7809	10	0.30854	T	0.27	-15.6156	20.4549	0.99139	0.0:1.0:0.0:0.0	.	447	Q9H2T7	RBP17_HUMAN	M	447;343	ENSP00000427975:T447M	ENSP00000373770:T447M	T	+	2	0	RANBP17	170284031	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.633000	0.83260	2.937000	0.99478	0.650000	0.86243	ACG		PASS	0.413	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		29	71	29	71	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27419665	27419665	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:27419665T>C	ENST00000211936.6	-	6	1957	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	ZNF184_ENST00000377419.1_Missense_Mutation_p.Y558C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y558C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGACACTGATAGGGTTTCTC	0.388																																						uc003njj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1672-1674)TAT>TGT		zinc finger protein 184							82.0	79.0	80.0					6																	27419665		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419665T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1673A>G	6.37:g.27419665T>C	ENSP00000211936:p.Tyr558Cys					ZNF184_uc010jqv.2_Missense_Mutation_p.Y558C|ZNF184_uc003nji.2_Missense_Mutation_p.Y558C	p.Y558C	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2484	-			558			C2H2-type 13.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1673A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896931	0.33535	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.25414	1.8;1.8	5.18	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000434	T	0.36880	0.0983	M	0.87617	2.895	0.26414	N	0.976211	D	0.56035	0.974	P	0.61940	0.896	T	0.17961	-1.0352	10	0.66056	D	0.02	.	8.1288	0.31014	0.2953:0.0:0.0:0.7047	.	558	Q99676	ZN184_HUMAN	C	558;558;474	ENSP00000211936:Y558C;ENSP00000366636:Y558C	ENSP00000211936:Y558C	Y	-	2	0	ZNF184	27527644	0.052000	0.20516	1.000000	0.80357	0.768000	0.43524	0.319000	0.19522	2.176000	0.68965	0.482000	0.46254	TAT		PASS	0.388	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		23	142	23	142	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31609651	31609651	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:31609651C>A	ENST00000375964.6	-	16	2630	c.2317G>T	c.(2317-2319)Ggg>Tgg	p.G773W	BAG6_ENST00000404765.2_Missense_Mutation_p.G803W|BAG6_ENST00000211379.5_Missense_Mutation_p.G767W|BAG6_ENST00000439687.2_Missense_Mutation_p.G641W|BAG6_ENST00000375976.4_Missense_Mutation_p.G767W|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Missense_Mutation_p.G767W	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	773					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.G767W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGGAAATGCCCATGGAGAAGC	0.557																																						uc003nvg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2317-2319)GGG>TGG		HLA-B associated transcript-3 isoform a							78.0	85.0	82.0					6																	31609651		1510	2709	4219	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31609651C>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2317G>T	6.37:g.31609651C>A	ENSP00000365131:p.Gly773Trp					BAT3_uc003nvf.3_Missense_Mutation_p.G767W|BAT3_uc003nvh.3_Missense_Mutation_p.G767W|BAT3_uc003nvi.3_Missense_Mutation_p.G767W|BAT3_uc011dnw.1_Missense_Mutation_p.G767W|BAT3_uc011dnx.1_Missense_Mutation_p.G641W	p.G773W	NM_004639	NP_004630	P46379	BAG6_HUMAN			16	2631	-			773					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.2317G>T	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429432	0.83776	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.64960	-0.6284	10	0.87932	D	0	.	18.4109	0.90550	0.0:1.0:0.0:0.0	.	641;767;773;767	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	W	767;773;767;803;641;767	ENSP00000365143:G767W;ENSP00000365131:G773W;ENSP00000211379:G767W;ENSP00000384494:G803W;ENSP00000402856:G641W;ENSP00000354875:G767W	ENSP00000211379:G767W	G	-	1	0	BAG6	31717630	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	6.338000	0.72963	2.649000	0.89929	0.650000	0.86243	GGG		PASS	0.557	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		19	55	19	55	---	---	---	---
PPARD	5467	broad.mit.edu	37	6	35393715	35393715	+	Silent	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:35393715C>G	ENST00000311565.4	+	9	1534	c.1185C>G	c.(1183-1185)ctC>ctG	p.L395L	PPARD_ENST00000360694.3_Silent_p.L395L|PPARD_ENST00000540939.1_Silent_p.L292L|PPARD_ENST00000418635.2_Silent_p.L297L|PPARD_ENST00000448077.2_Silent_p.L356L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	395	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L395L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCCAGTACCTCTTCCCCAAGC	0.607																																						uc003okm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1183-1185)CTC>CTG		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						104.0	92.0	96.0					6																	35393715		2203	4300	6503	SO:0001819	synonymous_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35393715C>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1185C>G	6.37:g.35393715C>G						PPARD_uc003okn.2_Silent_p.L395L|PPARD_uc011dtb.1_Silent_p.L356L|PPARD_uc011dtc.1_Silent_p.L297L	p.L395L	NM_006238	NP_006229	Q03181	PPARD_HUMAN			8	1494	+			395			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	c.1185C>G	CCDS4803.1																																																																																				PASS	0.607	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		19	68	19	68	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43250735	43250735	+	Nonsense_Mutation	SNP	G	G	T	rs368934924		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:43250735G>T	ENST00000259750.4	+	14	2340	c.2257G>T	c.(2257-2259)Gag>Tag	p.E753*		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	753	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E753*(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)			ggaagaagaagaggaggaaga	0.587																																						uc003ouq.1																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(2257-2259)GAG>TAG		tau tubulin kinase 1							16.0	16.0	16.0					6																	43250735		2202	4297	6499	SO:0001587	stop_gained	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43250735G>T	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.2257G>T	6.37:g.43250735G>T	ENSP00000259750:p.Glu753*						p.E753*	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)		14	2536	+			753			Glu-rich.|Potential.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Nonsense_Mutation	SNP	ENST00000259750.4	37	c.2257G>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910667	0.52439	.	.	ENSG00000146216	ENST00000259750	.	.	.	4.12	4.12	0.48240	.	1.589900	0.04477	N	0.377101	.	.	.	.	.	.	0.31723	N	0.637991	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.0199	0.42037	0.0:0.2068:0.7932:0.0	.	.	.	.	X	753	.	ENSP00000259750:E753X	E	+	1	0	TTBK1	43358713	0.829000	0.29322	0.046000	0.18839	0.002000	0.02628	2.418000	0.44662	1.826000	0.53198	0.555000	0.69702	GAG		PASS	0.587	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			9	19	9	19	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44279932	44279932	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:44279932G>C	ENST00000244571.4	-	2	314	c.312C>G	c.(310-312)aaC>aaG	p.N104K	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.N104K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTTCTGGCTGTTGGCCACAC	0.542																																						uc010jza.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)AAC>AAG		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						144.0	106.0	119.0					6																	44279932		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44279932G>C	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.312C>G	6.37:g.44279932G>C	ENSP00000244571:p.Asn104Lys					SPATS1_uc003oxg.2_Intron	p.N104K	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	315	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		104						Missense_Mutation	SNP	ENST00000244571.4	37	c.312C>G	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339091	0.81911	.	.	ENSG00000124608	ENST00000244571	T	0.72394	-0.65	4.9	4.02	0.46733	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83321	0.5229	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86502	0.1804	10	0.87932	D	0	-23.4887	10.0313	0.42103	0.1561:0.0:0.8439:0.0	.	104	Q5JTZ9	SYAM_HUMAN	K	104	ENSP00000244571:N104K	ENSP00000244571:N104K	N	-	3	2	AARS2	44387910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.751000	0.62169	1.254000	0.44035	0.436000	0.28706	AAC		PASS	0.542	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		11	95	11	95	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76713617	76713617	+	Missense_Mutation	SNP	G	G	A	rs371337067		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:76713617G>A	ENST00000369950.3	-	11	1375	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.P396S(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGTGGGCAGCTCTGAT	0.383																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1186-1188)CCC>TCC		interphotoreceptor matrix proteoglycan 1		G	SER/PRO	0,4406		0,0,2203	87.0	79.0	82.0		1186	1.4	0.0	6		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	IMPG1	NM_001563.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	396/798	76713617	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76713617G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1186C>T	6.37:g.76713617G>A	ENSP00000358966:p.Pro396Ser						p.P396S	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			11	1316	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	396						Missense_Mutation	SNP	ENST00000369950.3	37	c.1186C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	6.243	0.412970	0.11812	0.0	1.16E-4	ENSG00000112706	ENST00000369950	T	0.19532	2.14	4.32	1.35	0.21983	.	0.496097	0.18433	N	0.141388	T	0.05593	0.0147	L	0.56769	1.78	0.09310	N	1	P	0.36438	0.553	B	0.28465	0.09	T	0.23261	-1.0193	10	0.44086	T	0.13	.	3.2408	0.06780	0.2206:0.0:0.5718:0.2077	.	396	Q17R60	IMPG1_HUMAN	S	396	ENSP00000358966:P396S	ENSP00000358966:P396S	P	-	1	0	IMPG1	76770337	0.205000	0.23458	0.005000	0.12908	0.014000	0.08584	1.677000	0.37576	0.579000	0.29504	-0.251000	0.11542	CCC		PASS	0.383	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		20	86	20	86	---	---	---	---
TPBG	7162	broad.mit.edu	37	6	83075249	83075249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:83075249C>T	ENST00000369750.3	+	2	1188	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	TPBG_ENST00000543496.1_Nonsense_Mutation_p.Q191*|TPBG_ENST00000535040.1_Nonsense_Mutation_p.Q191*			Q13641	TPBG_HUMAN	trophoblast glycoprotein	191					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.Q191*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		AGATGAGCGGCAGAACCGGAG	0.652																																						uc003pjn.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(571-573)CAG>TAG		trophoblast glycoprotein precursor							80.0	88.0	85.0					6																	83075249		2203	4300	6503	SO:0001587	stop_gained	7162				cell adhesion	integral to plasma membrane		g.chr6:83075249C>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.571C>T	6.37:g.83075249C>T	ENSP00000358765:p.Gln191*					TPBG_uc010kbj.2_Nonsense_Mutation_p.Q191*|TPBG_uc003pjo.2_Nonsense_Mutation_p.Q191*	p.Q191*	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	1507	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	191			Extracellular (Potential).		A8K555	Nonsense_Mutation	SNP	ENST00000369750.3	37	c.571C>T	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140983	0.94560	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	.	.	.	4.62	0.458	0.16670	.	1.093450	0.07253	N	0.866224	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-0.3319	3.7849	0.08695	0.272:0.3883:0.2642:0.0755	.	.	.	.	X	191	.	ENSP00000358765:Q191X	Q	+	1	0	TPBG	83131968	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.253000	0.08794	0.163000	0.19507	-0.268000	0.10319	CAG		PASS	0.652	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			22	196	22	196	---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117862184	117862184	+	Silent	SNP	C	C	T	rs375715784		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr6:117862184C>T	ENST00000338728.5	+	11	1473	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	DCBLD1_ENST00000296955.8_Silent_p.S451S|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	451					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S451S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AAGAAACATCCACAGGTAGAG	0.418																																						uc003pxs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1351-1353)TCC>TCT		discoidin, CUB and LCCL domain containing 1							66.0	62.0	63.0					6																	117862184		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117862184C>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1353C>T	6.37:g.117862184C>T						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.S451S|DCBLD1_uc003pxt.1_Silent_p.S106S	p.S451S	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	11	1478	+		all_cancers(87;0.171)	451			Extracellular (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.1353C>T																																																																																					PASS	0.418	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		14	47	14	47	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14620493	14620493	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr7:14620493C>G	ENST00000403951.2	-	19	2025	c.1606G>C	c.(1606-1608)Gga>Cga	p.G536R	DGKB_ENST00000399322.3_Missense_Mutation_p.G536R|DGKB_ENST00000406247.3_Missense_Mutation_p.G536R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.G528R|DGKB_ENST00000444700.2_Missense_Mutation_p.G517R|DGKB_ENST00000258767.5_Missense_Mutation_p.G536R|DGKB_ENST00000402815.1_Missense_Mutation_p.G535R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	536	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G536R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTACCTCCTCCCCATCGCAGG	0.428																																						uc003ssz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1606-1608)GGA>CGA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						86.0	80.0	82.0					7																	14620493		1969	4169	6138	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14620493C>G	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1606G>C	7.37:g.14620493C>G	ENSP00000385780:p.Gly536Arg					DGKB_uc011jxt.1_Missense_Mutation_p.G517R|DGKB_uc003sta.2_Missense_Mutation_p.G536R|DGKB_uc011jxu.1_Missense_Mutation_p.G535R	p.G536R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			18	1793	-			536			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1606G>C	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372592	0.95923	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.77	5.77	0.91146	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.73760	-0.3881	10	0.87932	D	0	.	19.9803	0.97323	0.0:1.0:0.0:0.0	.	535;517;536;536	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	R	536;536;536;535;528;517;536	ENSP00000385780:G536R;ENSP00000382260:G536R;ENSP00000258767:G536R;ENSP00000384909:G535R;ENSP00000385031:G528R;ENSP00000388451:G517R;ENSP00000386066:G536R	ENSP00000258767:G536R	G	-	1	0	DGKB	14587018	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.787000	0.85759	2.718000	0.92993	0.591000	0.81541	GGA		PASS	0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		11	78	11	78	---	---	---	---
NPVF	64111	broad.mit.edu	37	7	25266624	25266624	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr7:25266624C>T	ENST00000222674.2	-	2	206	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	54					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.E54K(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGGCTTCTTTCCCCTTTTGGG	0.348																																						uc003sxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)GAA>AAA		neuropeptide VF precursor							78.0	85.0	82.0					7																	25266624		2203	4300	6503	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25266624C>T	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.160G>A	7.37:g.25266624C>T	ENSP00000222674:p.Glu54Lys						p.E54K	NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN			2	207	-			54					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.160G>A	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495932	0.44352	.	.	ENSG00000105954	ENST00000222674	T	0.25579	1.79	5.67	3.73	0.42828	.	0.096519	0.45606	D	0.000357	T	0.28699	0.0711	M	0.70275	2.135	0.23227	N	0.998086	B	0.23249	0.082	B	0.28916	0.096	T	0.26395	-1.0104	10	0.59425	D	0.04	-7.407	8.0973	0.30835	0.0:0.6365:0.2714:0.092	.	54	Q9HCQ7	RFRP_HUMAN	K	54	ENSP00000222674:E54K	ENSP00000222674:E54K	E	-	1	0	NPVF	25233149	1.000000	0.71417	0.929000	0.37066	0.077000	0.17291	0.521000	0.22893	1.534000	0.49203	0.655000	0.94253	GAA		PASS	0.348	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		48	214	48	214	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33427616	33427616	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr7:33427616G>T	ENST00000242067.6	+	19	2496	c.1975G>T	c.(1975-1977)Ggt>Tgt	p.G659C	BBS9_ENST00000396127.2_Missense_Mutation_p.G624C|BBS9_ENST00000350941.3_Missense_Mutation_p.G619C|BBS9_ENST00000355070.2_Missense_Mutation_p.G654C|BBS9_ENST00000354265.4_Missense_Mutation_p.G624C	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	659					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G659C(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACGGATAAATGGTGAAAAATT	0.333									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1975-1977)GGT>TGT		parathyroid hormone-responsive B1 isoform 2							106.0	116.0	112.0					7																	33427616		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33427616G>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1975G>T	7.37:g.33427616G>T	ENSP00000242067:p.Gly659Cys					BBS9_uc003tdo.1_Missense_Mutation_p.G624C|BBS9_uc003tdp.1_Missense_Mutation_p.G654C|BBS9_uc003tdq.1_Missense_Mutation_p.G619C|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.G183C|BBS9_uc003tds.1_Missense_Mutation_p.G82C|BBS9_uc003tdt.2_RNA	p.G659C	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		19	2488	+			659					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1975G>T	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.33|10.33	1.321073|1.321073	0.23994|0.23994	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.12039|.	2.72;2.72;2.72;2.72;2.72|.	5.57|5.57	4.69|4.69	0.59074|0.59074	.|.	0.325896|.	0.32106|.	N|.	0.006570|.	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.28178|.	0.202;0.202;0.202;0.202;0.202|.	B;B;B;B;B|.	0.38755|.	0.281;0.281;0.281;0.281;0.193|.	T|T	0.56589|0.56589	-0.7954|-0.7954	10|5	0.38643|.	T|.	0.18|.	-10.5701|-10.5701	12.7878|12.7878	0.57516|0.57516	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	659;619;654;624;659|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	C|L	659;619;624;654;624;659|225	ENSP00000242067:G659C;ENSP00000313122:G619C;ENSP00000379433:G624C;ENSP00000347182:G654C;ENSP00000346214:G624C|.	ENSP00000242067:G659C|.	G|W	+|+	1|2	0|0	BBS9|BBS9	33394141|33394141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.259000|0.259000	0.26198|0.26198	6.097000|6.097000	0.71452|0.71452	1.352000|1.352000	0.45808|0.45808	-0.266000|-0.266000	0.10368|0.10368	GGT|TGG		PASS	0.333	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			55	280	55	280	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43484125	43484125	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr7:43484125G>T	ENST00000395891.2	+	11	1959	c.1354G>T	c.(1354-1356)Gcc>Tcc	p.A452S	HECW1_ENST00000453890.1_Missense_Mutation_p.A452S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	452					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A452S(1)|p.A431S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATCCAGCCTGCCCCCAGTGC	0.642																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1354-1356)GCC>TCC		NEDD4-like ubiquitin-protein ligase 1							16.0	19.0	18.0					7																	43484125		2097	4226	6323	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484125G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1354G>T	7.37:g.43484125G>T	ENSP00000379228:p.Ala452Ser					HECW1_uc011kbi.1_Missense_Mutation_p.A452S	p.A452S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	1959	+			452					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1354G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949348	0.18356	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.28666	1.61;1.6	5.2	-2.85	0.05734	.	2.818990	0.00890	N	0.002226	T	0.10252	0.0251	N	0.01705	-0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22312	-1.0220	10	0.07813	T	0.8	.	4.8075	0.13328	0.3796:0.0:0.2183:0.4021	.	452;452	B4DH42;Q76N89	.;HECW1_HUMAN	S	452	ENSP00000379228:A452S;ENSP00000407774:A452S	ENSP00000265522:A452S	A	+	1	0	HECW1	43450650	0.000000	0.05858	0.000000	0.03702	0.739000	0.42172	-0.298000	0.08265	-0.411000	0.07530	0.591000	0.81541	GCC		PASS	0.642	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		4	19	4	19	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82581271	82581271	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr7:82581271C>A	ENST00000333891.9	-	5	9335	c.8998G>T	c.(8998-9000)Gca>Tca	p.A3000S	PCLO_ENST00000423517.2_Missense_Mutation_p.A3000S|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A3000S(2)|p.A2931S(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						CCAGCTTCTGCTAAATTTGTG	0.403																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(8998-9000)GCA>TCA		piccolo isoform 1							165.0	159.0	161.0					7																	82581271		1849	4097	5946	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.chr7:82581271C>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.8998G>T	7.37:g.82581271C>A	ENSP00000334319:p.Ala3000Ser					PCLO_uc003uhv.2_Missense_Mutation_p.A3000S|PCLO_uc010lec.2_5'Flank	p.A3000S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	9287	-			2931						Missense_Mutation	SNP	ENST00000333891.9	37	c.8998G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.272952	0.23221	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19250	2.17;2.16	5.73	5.73	0.89815	.	.	.	.	.	T	0.17365	0.0417	N	0.24115	0.695	0.80722	D	1	B;B	0.18310	0.013;0.027	B;B	0.19946	0.012;0.027	T	0.02877	-1.1099	9	0.87932	D	0	.	14.6047	0.68469	0.1808:0.8192:0.0:0.0	.	3000;3000	Q9Y6V0-5;Q9Y6V0-6	.;.	S	2931;3000;3000	ENSP00000334319:A3000S;ENSP00000388393:A3000S	ENSP00000334319:A3000S	A	-	1	0	PCLO	82419207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.064000	0.41432	2.698000	0.92095	0.557000	0.71058	GCA		PASS	0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		56	327	56	327	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150554527	150554527	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr7:150554527C>G	ENST00000493429.1	+	4	1553	c.969C>G	c.(967-969)agC>agG	p.S323R	AOC1_ENST00000360937.4_Missense_Mutation_p.S323R|AOC1_ENST00000416793.2_Missense_Mutation_p.S323R|AOC1_ENST00000467291.1_Missense_Mutation_p.S323R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	323					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.S323R(1)								Amiloride(DB00594)	GCGGCTGGAGCTTTGCCTTCC	0.672																																						uc003why.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(967-969)AGC>AGG		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						16.0	19.0	18.0					7																	150554527		2194	4282	6476	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554527C>G	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.969C>G	7.37:g.150554527C>G	ENSP00000418614:p.Ser323Arg					ABP1_uc003whz.1_Missense_Mutation_p.S323R|ABP1_uc003wia.1_Missense_Mutation_p.S323R	p.S323R	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5187	+	all_neural(206;0.219)		323					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.969C>G	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789677	0.50102	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T	0.03951	3.76;3.76;3.76;3.76;3.75	4.96	2.18	0.27775	Copper amine oxidase, C-terminal (3);	0.104849	0.64402	D	0.000005	T	0.19406	0.0466	M	0.86343	2.81	0.49915	D	0.999837	D;B	0.63880	0.993;0.233	D;B	0.65773	0.938;0.125	T	0.00337	-1.1807	10	0.72032	D	0.01	-10.5368	8.3097	0.32064	0.0:0.7384:0.0:0.2616	.	323;323	C9J690;P19801	.;ABP1_HUMAN	R	323;323;323;323;199;323	ENSP00000418614:S323R;ENSP00000418328:S323R;ENSP00000354193:S323R;ENSP00000411613:S323R;ENSP00000417392:S323R	ENSP00000354193:S323R	S	+	3	2	ABP1	150185460	0.938000	0.31826	0.994000	0.49952	0.712000	0.41017	0.069000	0.14552	0.379000	0.24794	0.561000	0.74099	AGC		PASS	0.672	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		14	13	14	13	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9634202	9634202	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr8:9634202G>A	ENST00000310430.6	+	27	3966	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K	TNKS_ENST00000518281.1_Missense_Mutation_p.E1077K	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1314	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.E1314K(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CATGAAGCCAGAAGCCCCTTC	0.483																																						uc003wss.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(3940-3942)GAA>AAA		tankyrase, TRF1-interacting ankyrin-related							92.0	90.0	91.0					8																	9634202		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9634202G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3940G>A	8.37:g.9634202G>A	ENSP00000311579:p.Glu1314Lys					TNKS_uc011kww.1_Missense_Mutation_p.E1077K	p.E1314K	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	27	3945	+			1314			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3940G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423448	0.83559	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.63417	-0.04;0.04	5.97	5.97	0.96955	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.148084	0.64402	D	0.000012	T	0.63558	0.2521	L	0.53249	1.67	0.80722	D	1	B	0.24651	0.108	B	0.25987	0.065	T	0.60541	-0.7243	10	0.72032	D	0.01	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1314	O95271	TNKS1_HUMAN	K	1314;1077	ENSP00000311579:E1314K;ENSP00000429890:E1077K	ENSP00000311579:E1314K	E	+	1	0	TNKS	9671612	1.000000	0.71417	0.947000	0.38551	0.750000	0.42670	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.483	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		8	57	8	57	---	---	---	---
GATA4	2626	broad.mit.edu	37	8	11607664	11607664	+	Silent	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr8:11607664C>A	ENST00000335135.4	+	4	1386	c.828C>A	c.(826-828)acC>acA	p.T276T	GATA4_ENST00000532059.1_Silent_p.T277T|GATA4_ENST00000528712.1_Silent_p.T70T	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	276	Poly-Thr.				atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T276T(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		ACTGCCAGACCACCACCACCA	0.627																																						uc003wuc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(826-828)ACC>ACA		GATA binding protein 4							60.0	53.0	55.0					8																	11607664		2203	4300	6503	SO:0001819	synonymous_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607664C>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.828C>A	8.37:g.11607664C>A						GATA4_uc003wub.1_Silent_p.T70T|GATA4_uc011kxc.1_Silent_p.T277T	p.T276T	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	4	1382	+	all_epithelial(15;0.0839)		276			GATA-type 2.|Poly-Thr.		B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	ENST00000335135.4	37	c.828C>A	CCDS5983.1																																																																																				PASS	0.627	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		13	33	13	33	---	---	---	---
COPS5	10987	broad.mit.edu	37	8	67970337	67970337	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr8:67970337T>C	ENST00000357849.4	-	3	808	c.488A>G	c.(487-489)gAa>gGa	p.E163G	AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000519963.1_5'Flank|COPS5_ENST00000517736.1_Missense_Mutation_p.E99G|PPP1R42_ENST00000517834.1_5'Flank	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	163	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.E163G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TACAAATGGTTCCTGGAACTG	0.393																																						uc003xxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(487-489)GAA>GGA		COP9 signalosome subunit 5							78.0	75.0	76.0					8																	67970337		2203	4300	6503	SO:0001583	missense	10987				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	g.chr8:67970337T>C	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.488A>G	8.37:g.67970337T>C	ENSP00000350512:p.Glu163Gly					COPS5_uc003xxd.2_Missense_Mutation_p.E99G|COPS5_uc003xxf.2_Missense_Mutation_p.E208G|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.E163G	p.E163G	NM_006837	NP_006828	Q92905	CSN5_HUMAN	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)		3	819	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	163			MPN.		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	37	c.488A>G	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.576037	0.86645	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	T;T;T	0.57907	0.37;0.37;0.37	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	L	0.56340	1.77	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.998	D;D;D	0.77557	0.957;0.967;0.99	T	0.67757	-0.5588	10	0.45353	T	0.12	-12.0944	15.8841	0.79226	0.0:0.0:0.0:1.0	.	132;99;163	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	G	163;99;99	ENSP00000350512:E163G;ENSP00000429774:E99G;ENSP00000428586:E99G	ENSP00000350512:E163G	E	-	2	0	COPS5	68132891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.924000	0.87555	2.215000	0.71742	0.528000	0.53228	GAA		PASS	0.393	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			26	139	26	139	---	---	---	---
RDH10	157506	broad.mit.edu	37	8	74209534	74209534	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr8:74209534T>A	ENST00000240285.5	+	2	1073	c.395T>A	c.(394-396)gTc>gAc	p.V132D	RDH10_ENST00000519380.1_5'UTR|RPL7_ENST00000396465.1_5'Flank|RP11-434I12.2_ENST00000520894.1_RNA|RPL7_ENST00000396466.1_5'Flank	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	132					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.V132D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GCTGAAAGAGTCCGCAAGGAG	0.512																																						uc003xzi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GTC>GAC		retinol dehydrogenase 10							215.0	170.0	185.0					8																	74209534		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74209534T>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.395T>A	8.37:g.74209534T>A	ENSP00000240285:p.Val132Asp					RDH10_uc003xzj.2_5'UTR	p.V132D	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		2	655	+	Breast(64;0.0954)		132						Missense_Mutation	SNP	ENST00000240285.5	37	c.395T>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388414	0.82902	.	.	ENSG00000121039	ENST00000240285	D	0.89123	-2.47	4.84	4.84	0.62591	NAD(P)-binding domain (1);	0.174632	0.50627	D	0.000120	D	0.95686	0.8597	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96794	0.9584	10	0.87932	D	0	.	14.8732	0.70474	0.0:0.0:0.0:1.0	.	132	Q8IZV5	RDH10_HUMAN	D	132	ENSP00000240285:V132D	ENSP00000240285:V132D	V	+	2	0	RDH10	74372088	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.157000	0.67596	0.533000	0.62120	GTC		PASS	0.512	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			36	150	36	150	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256749	113256749	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr8:113256749C>G	ENST00000297405.5	-	65	10520	c.10276G>C	c.(10276-10278)Gac>Cac	p.D3426H	CSMD3_ENST00000455883.2_Missense_Mutation_p.D3257H|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3386H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3356H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3426	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D3426H(1)|p.D3386H(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						GATGGAAGGTCCATCCCTACG	0.408										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.(10276-10278)GAC>CAC		CUB and Sushi multiple domains 3 isoform 1							134.0	117.0	122.0					8																	113256749		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256749C>G	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.10276G>C	8.37:g.113256749C>G	ENSP00000297405:p.Asp3426His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D2628H|CSMD3_uc003ynt.2_Missense_Mutation_p.D3386H|CSMD3_uc011lhx.1_Missense_Mutation_p.D3257H	p.D3426H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10435	-			3426			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10276G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274242	0.59649	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.068165	0.56097	D	0.000029	T	0.70159	0.3192	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.94;0.998;1.0	T	0.72127	-0.4384	10	0.59425	D	0.04	.	18.8646	0.92287	0.0:1.0:0.0:0.0	.	3257;3426;3386	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3386;3426;2696;3257;3356	ENSP00000345799:D3386H;ENSP00000297405:D3426H;ENSP00000341558:D2696H;ENSP00000412263:D3257H;ENSP00000343124:D3356H	ENSP00000297405:D3426H	D	-	1	0	CSMD3	113325925	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	7.458000	0.80787	2.687000	0.91594	0.591000	0.81541	GAC		PASS	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	129	28	129	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132980672	132980672	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr8:132980672C>G	ENST00000254624.5	+	9	1211	c.986C>G	c.(985-987)tCc>tGc	p.S329C	EFR3A_ENST00000334503.4_Missense_Mutation_p.S329C|EFR3A_ENST00000519656.1_Missense_Mutation_p.S293C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	329						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.S329C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCTAAAGGTTCCATAGGTGAG	0.403																																						uc003yte.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(985-987)TCC>TGC		EFR3 homolog A							75.0	69.0	71.0					8																	132980672		2203	4299	6502	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132980672C>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.986C>G	8.37:g.132980672C>G	ENSP00000254624:p.Ser329Cys						p.S329C	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		9	1187	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		329					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.986C>G	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654074	0.88056	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.67345	3.52;3.52;-0.26	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.84034	0.0361	10	0.87932	D	0	-9.9488	18.0853	0.89455	0.0:1.0:0.0:0.0	.	329	Q14156	EFR3A_HUMAN	C	329;329;329;293	ENSP00000254624:S329C;ENSP00000334769:S329C;ENSP00000428086:S293C	ENSP00000254624:S329C	S	+	2	0	EFR3A	133049854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.494000	0.84150	0.655000	0.94253	TCC		PASS	0.403	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		17	58	17	58	---	---	---	---
XPA	7507	broad.mit.edu	37	9	100459559	100459559	+	Missense_Mutation	SNP	C	C	T	rs200218050		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr9:100459559C>T	ENST00000375128.4	-	1	80	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	6	Interaction with CEP164 and required for UV resistance.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.G6W(1)|p.G6R(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GGCAAAGCCCCGTCGGCCGCC	0.726			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc004axr.3			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	Mis|N|F|S	"""xeroderma pigmentosum, complementation group A"""			E		skin basal cell|skin squamous cell|melanoma			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(16-18)GGG>AGG	NER	xeroderma pigmentosum, complementation group A							12.0	16.0	15.0					9																	100459559		1830	3825	5655	SO:0001583	missense	7507	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459559C>T	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.16G>A	9.37:g.100459559C>T	ENSP00000364270:p.Gly6Arg					XPA_uc004axs.3_RNA	p.G6R	NM_000380	NP_000371	P23025	XPA_HUMAN			1	133	-		Acute lymphoblastic leukemia(62;0.158)	6			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	c.16G>A	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524918	0.27299	.	.	ENSG00000136936	ENST00000375128	T	0.59906	0.23	4.62	-1.25	0.09405	.	1.710250	0.02794	N	0.122373	T	0.35770	0.0943	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17440	-1.0369	10	0.16420	T	0.52	.	8.745	0.34580	0.0:0.5458:0.0:0.4542	.	6	P23025	XPA_HUMAN	R	6	ENSP00000364270:G6R	ENSP00000364270:G6R	G	-	1	0	XPA	99499380	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.006000	0.13152	-0.285000	0.09089	0.462000	0.41574	GGG		PASS	0.726	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		12	22	12	22	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104433333	104433334	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr9:104433333_104433334GA>AT	ENST00000361820.3	-	3	1960_1961	c.1360_1361TC>AT	c.(1360-1362)TCc>ATc	p.S454I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	454					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.S454C(1)|p.S454I(1)|p.S454F(1)|p.S454T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GACGATGGTGGAACCTTTTACT	0.495																																						uc004bbp.1																			4	Substitution - Missense(4)		lung(4)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1360-1362)TCC>TTC|c.(1360-1362)TCC>ACC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)																																			SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433333G>A|g.chr9:104433334A>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1360_1361delinsAT	9.37:g.104433333_104433334delinsAT	ENSP00000355155:p.Ser454Ile					GRIN3A_uc004bbq.1_Missense_Mutation_p.S454F|GRIN3A_uc004bbq.1_Missense_Mutation_p.S454T	p.S454F|p.S454T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	1962|1961	-		Acute lymphoblastic leukemia(62;0.0568)	454			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1361C>T|c.1360T>A	CCDS6758.1																																																																																				PASS	0.495	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			71	205|203	71	203	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113170734	113170734	+	Silent	SNP	G	G	A	rs535699411		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr9:113170734G>A	ENST00000401783.2	-	38	7482	c.7146C>T	c.(7144-7146)acC>acT	p.T2382T	SVEP1_ENST00000297826.5_Silent_p.T308T|SVEP1_ENST00000374469.1_Silent_p.T2359T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2382	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.T2385T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGGAGGTGGGGTACAAAGAA	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20683	0.0		0.0	False		,,,				2504	0.0					uc010mtz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)	7						c.(7144-7146)ACC>ACT		polydom							60.0	59.0	60.0					9																	113170734		1906	4123	6029	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170734G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7146C>T	9.37:g.113170734G>A						SVEP1_uc010mty.2_Silent_p.T308T	p.T2382T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	7483	-			2382			Sushi 17.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.7146C>T	CCDS48004.1																																																																																				PASS	0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	46	15	46	---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136529034	136529034	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr9:136529034T>C	ENST00000371872.4	-	21	2991	c.2734A>G	c.(2734-2736)Aag>Gag	p.K912E	SARDH_ENST00000469828.1_5'Flank|SARDH_ENST00000422262.2_Missense_Mutation_p.K744E|SARDH_ENST00000439388.1_Missense_Mutation_p.K912E|SARDH_ENST00000371868.1_Missense_Mutation_p.K362E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	912					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.K912E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TTCACCCTCTTGTTGTTGGGG	0.592																																						uc004cep.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2734-2736)AAG>GAG		sarcosine dehydrogenase precursor							203.0	159.0	174.0					9																	136529034		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136529034T>C		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2734A>G	9.37:g.136529034T>C	ENSP00000360938:p.Lys912Glu					SARDH_uc004ceo.2_Missense_Mutation_p.K912E|SARDH_uc011mdn.1_Missense_Mutation_p.K912E|SARDH_uc011mdo.1_Missense_Mutation_p.K744E|SARDH_uc004cen.2_Missense_Mutation_p.K362E	p.K912E	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	21	2868	-			912					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2734A>G	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415715	0.25552	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.79749	-0.59;-1.3;-0.59;-0.99	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	L	0.37750	1.13	0.80722	D	1	B;B	0.23316	0.083;0.021	B;B	0.26094	0.066;0.024	T	0.63589	-0.6603	10	0.06099	T	0.92	-34.4216	14.1326	0.65266	0.0:0.0:0.0:1.0	.	912;362	Q9UL12;Q5SYV2	SARDH_HUMAN;.	E	912;362;912;744	ENSP00000360938:K912E;ENSP00000360934:K362E;ENSP00000403084:K912E;ENSP00000415537:K744E	ENSP00000360934:K362E	K	-	1	0	SARDH	135518855	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	5.306000	0.65756	1.895000	0.54865	0.459000	0.35465	AAG		PASS	0.592	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			61	132	61	132	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16882993	16882993	+	Silent	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:16882993G>C	ENST00000377833.4	-	61	9782	c.9717C>G	c.(9715-9717)tcC>tcG	p.S3239S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3239	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S3239S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGTACTGTGGAACCACAAA	0.368																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9715-9717)TCC>TCG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						106.0	94.0	98.0					10																	16882993		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882993G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9717C>G	10.37:g.16882993G>C							p.S3239S	NM_001081	NP_001072	O60494	CUBN_HUMAN			61	9769	-			3239			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9717C>G	CCDS7113.1																																																																																				PASS	0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	62	16	62	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25464669	25464669	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:25464669G>A	ENST00000376351.3	+	1	679	c.320G>A	c.(319-321)gGc>gAc	p.G107D	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	107					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G107D(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGTTGGCGGGCCTGCCGGGG	0.677																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(319-321)GGC>GAC		G protein-coupled receptor 158 precursor							32.0	35.0	34.0					10																	25464669		2203	4297	6500	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464669G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.320G>A	10.37:g.25464669G>A	ENSP00000365529:p.Gly107Asp					LOC100128811_uc010qde.1_Missense_Mutation_p.P95S	p.G107D	NM_020752	NP_065803	Q5T848	GP158_HUMAN			1	380	+			107			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.320G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505568	0.44558	.	.	ENSG00000151025	ENST00000376351	T	0.79554	-1.28	4.54	4.54	0.55810	.	0.172789	0.38959	N	0.001518	T	0.74199	0.3685	L	0.45137	1.4	0.28884	N	0.894264	B	0.20368	0.044	B	0.23275	0.045	T	0.67181	-0.5735	10	0.35671	T	0.21	.	14.0339	0.64634	0.0:0.152:0.848:0.0	.	107	Q5T848	GP158_HUMAN	D	107	ENSP00000365529:G107D	ENSP00000365529:G107D	G	+	2	0	GPR158	25504675	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	1.884000	0.39668	2.359000	0.80004	0.467000	0.42956	GGC		PASS	0.677	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	39	7	39	---	---	---	---
RET	5979	broad.mit.edu	37	10	43600539	43600539	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:43600539G>T	ENST00000355710.3	+	4	997	c.765G>T	c.(763-765)atG>atT	p.M255I	RET_ENST00000340058.5_Missense_Mutation_p.M255I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	255	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M255I(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGTGGTGATGGTGCCCTTCC	0.716		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - Missense(1)		lung(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(763-765)ATG>ATT		ret proto-oncogene isoform a	Sunitinib(DB01268)						49.0	45.0	46.0					10																	43600539		2200	4298	6498	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43600539G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.765G>T	10.37:g.43600539G>T	ENSP00000347942:p.Met255Ile					RET_uc001jak.1_Missense_Mutation_p.M255I|RET_uc010qez.1_Missense_Mutation_p.M1I	p.M255I	NM_020975	NP_066124	P07949	RET_HUMAN			4	955	+		Ovarian(717;0.0423)	255			Cadherin.|Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.765G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	g	5.650	0.304626	0.10678	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.50548	0.74;0.74	5.01	3.12	0.35913	Cadherin (4);Cadherin-like (1);	0.600408	0.18656	N	0.134869	T	0.32194	0.0821	L	0.44542	1.39	0.09310	N	1	B;B;B	0.21520	0.057;0.017;0.014	B;B;B	0.23018	0.01;0.043;0.025	T	0.17653	-1.0362	10	0.17832	T	0.49	.	2.8752	0.05629	0.1502:0.1504:0.5439:0.1554	.	1;255;255	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	255	ENSP00000347942:M255I;ENSP00000344798:M255I	ENSP00000344798:M255I	M	+	3	0	RET	42920545	1.000000	0.71417	0.200000	0.23457	0.142000	0.21351	1.424000	0.34848	0.682000	0.31407	0.550000	0.68814	ATG		PASS	0.716	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		5	25	5	25	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389921	48389921	+	Silent	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:48389921G>T	ENST00000224600.4	-	1	1070	c.957C>A	c.(955-957)atC>atA	p.I319I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	319	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.I319I(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCAGAGTGAGGATGGCCAGGG	0.687																																						uc001jez.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(955-957)ATC>ATA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						33.0	33.0	33.0					10																	48389921		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389921G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.957C>A	10.37:g.48389921G>T							p.I319I	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1071	-			319			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.957C>A	CCDS7218.1																																																																																				PASS	0.687	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		10	67	10	67	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85991773	85991773	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:85991773C>A	ENST00000372105.3	-	4	1803	c.1782G>T	c.(1780-1782)gaG>gaT	p.E594D		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	594						integral component of endoplasmic reticulum membrane (GO:0030176)		p.E594D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCTGTCAGCCTCGCTGACAC	0.562																																						uc001kcz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1780-1782)GAG>GAT		retina specific protein PAL							84.0	67.0	73.0					10																	85991773		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85991773C>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1782G>T	10.37:g.85991773C>A	ENSP00000361177:p.Glu594Asp						p.E594D	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1804	-			594			Cytoplasmic (Potential).|LRR 6.		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1782G>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626876	0.28978	.	.	ENSG00000148602	ENST00000372105	T	0.45276	0.9	5.37	0.202	0.15190	.	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.49350	1.555	0.51233	D	0.999919	P	0.51933	0.949	P	0.55455	0.776	T	0.30707	-0.9969	10	0.46703	T	0.11	.	9.4877	0.38940	0.0:0.4165:0.0:0.5835	.	594	Q9P2V4	LRIT1_HUMAN	D	594	ENSP00000361177:E594D	ENSP00000361177:E594D	E	-	3	2	LRIT1	85981753	0.948000	0.32251	0.094000	0.20943	0.101000	0.19017	0.079000	0.14782	-0.118000	0.11851	-0.229000	0.12294	GAG		PASS	0.562	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		9	44	9	44	---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121571349	121571349	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:121571349G>A	ENST00000361976.2	+	15	1934	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.E590K(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTTGCATAAGGAAAATCAGAG	0.413																																						uc001leo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1768-1770)GAA>AAA		inositol polyphosphate-5-phosphatase F							107.0	115.0	113.0					10																	121571349		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121571349G>A	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1768G>A	10.37:g.121571349G>A	ENSP00000354519:p.Glu590Lys						p.E590K	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	15	1934	+		Lung NSC(174;0.109)|all_lung(145;0.142)	590					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1768G>A	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831422	0.91036	.	.	ENSG00000198825	ENST00000361976	T	0.39787	1.06	5.45	5.45	0.79879	.	0.053867	0.64402	D	0.000001	T	0.56187	0.1968	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.55296	-0.8163	10	0.51188	T	0.08	-19.1722	19.2723	0.94015	0.0:0.0:1.0:0.0	.	590	Q9Y2H2	SAC2_HUMAN	K	590	ENSP00000354519:E590K	ENSP00000354519:E590K	E	+	1	0	INPP5F	121561339	1.000000	0.71417	0.996000	0.52242	0.676000	0.39594	6.475000	0.73582	2.567000	0.86603	0.563000	0.77884	GAA		PASS	0.413	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		49	186	49	186	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123247514	123247514	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:123247514C>G	ENST00000358487.5	-	14	2249	c.1977G>C	c.(1975-1977)aaG>aaC	p.K659N	FGFR2_ENST00000351936.6_Missense_Mutation_p.K657N|FGFR2_ENST00000478859.1_Missense_Mutation_p.K431N|FGFR2_ENST00000369056.1_Missense_Mutation_p.K660N|FGFR2_ENST00000360144.3_Missense_Mutation_p.K571N|FGFR2_ENST00000356226.4_Missense_Mutation_p.K542N|FGFR2_ENST00000357555.5_Missense_Mutation_p.K570N|FGFR2_ENST00000369060.4_Missense_Mutation_p.K543N|FGFR2_ENST00000346997.2_Missense_Mutation_p.K657N|FGFR2_ENST00000369061.4_Missense_Mutation_p.K547N|FGFR2_ENST00000369059.1_Missense_Mutation_p.K545N|FGFR2_ENST00000457416.2_Missense_Mutation_p.K660N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	659	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> N (in craniosynostosis; constitutive kinase activity). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.K659N(2)|p.K660N(1)|p.K570N(1)|p.K657N(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATTGGTGGTCTTTTTGTAAT	0.448		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		5	Substitution - Missense(5)	p.K659E(1)|p.K659N(1)|p.K659M(1)	lung(4)|endometrium(1)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96	GRCh37	CM020143	FGFR2	M		c.(1975-1977)AAG>AAC		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						192.0	188.0	189.0					10																	123247514		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123247514C>G	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1977G>C	10.37:g.123247514C>G	ENSP00000351276:p.Lys659Asn					FGFR2_uc010qtg.1_Missense_Mutation_p.K547N|FGFR2_uc010qth.1_Missense_Mutation_p.K544N|FGFR2_uc010qti.1_Missense_Mutation_p.K570N|FGFR2_uc010qtj.1_Missense_Mutation_p.K660N|FGFR2_uc010qtl.1_Missense_Mutation_p.K543N|FGFR2_uc010qtm.1_Missense_Mutation_p.K542N|FGFR2_uc001lfl.3_Missense_Mutation_p.K660N|FGFR2_uc001lfm.2_Missense_Mutation_p.K571N|FGFR2_uc001lfg.3_Missense_Mutation_p.K267N	p.K659N	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	15	2624	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	659		K -> N (in craniosynostosis).	Cytoplasmic (Potential).|Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1977G>C	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124721	0.77436	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.13	4.19	0.49359	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	D	0.86155	0.5865	L	0.37750	1.13	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.961;0.997;0.999;0.991;0.916;0.984;1.0	D	0.87080	0.2165	10	0.87932	D	0	.	12.4842	0.55863	0.0:0.9141:0.0:0.0859	.	676;658;570;542;659;571;660;562	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	N	570;660;547;659;542;543;545;251;657;660;657;571;660;660;568	ENSP00000350166:K570N;ENSP00000358057:K547N;ENSP00000351276:K659N;ENSP00000348559:K542N;ENSP00000358056:K543N;ENSP00000358055:K545N;ENSP00000404219:K251N;ENSP00000263451:K657N;ENSP00000410294:K660N;ENSP00000309878:K657N;ENSP00000353262:K571N;ENSP00000358052:K660N;ENSP00000358054:K660N;ENSP00000337665:K568N	ENSP00000337665:K568N	K	-	3	2	FGFR2	123237504	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.570000	0.45981	1.205000	0.43262	0.655000	0.94253	AAG		PASS	0.448	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		62	260	62	260	---	---	---	---
PWWP2B	170394	broad.mit.edu	37	10	134219581	134219581	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr10:134219581C>T	ENST00000305233.5	+	2	1636	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	526	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.							p.A526V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCGAGAAGCGAAGGTCTCG	0.493																																						uc001lll.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1576-1578)GCG>GTG		PWWP domain containing 2 isoform 1							182.0	184.0	183.0					10																	134219581		2201	4300	6501	SO:0001583	missense	170394							g.chr10:134219581C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1577C>T	10.37:g.134219581C>T	ENSP00000306324:p.Ala526Val					PWWP2B_uc009ybe.2_Intron	p.A526V	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1606	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	526			PWWP.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1577C>T	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517555	0.85495	.	.	ENSG00000171813	ENST00000305233	T	0.68025	-0.3	4.28	4.28	0.50868	PWWP (2);	0.000000	0.64402	U	0.000003	T	0.73016	0.3533	L	0.35593	1.075	0.80722	D	1	D	0.57899	0.981	D	0.66847	0.947	T	0.76984	-0.2756	10	0.87932	D	0	.	16.2808	0.82678	0.0:1.0:0.0:0.0	.	526	Q6NUJ5	PWP2B_HUMAN	V	526	ENSP00000306324:A526V	ENSP00000306324:A526V	A	+	2	0	PWWP2B	134069571	1.000000	0.71417	0.924000	0.36721	0.516000	0.34256	7.021000	0.76425	2.396000	0.81511	0.563000	0.77884	GCG		PASS	0.493	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		8	115	8	115	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	T	rs4151026		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:36595189G>T	ENST00000299440.5	+	2	447	c.335G>T	c.(334-336)cGc>cTc	p.R112L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(334-336)CGC>CTC		recombination activating gene 1							111.0	106.0	107.0					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595189G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>T	11.37:g.36595189G>T	ENSP00000299440:p.Arg112Leu					RAG1_uc001mwt.2_RNA	p.R112L	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	459	+	all_lung(20;0.226)	all_hematologic(20;0.107)	112			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.335G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974131	0.92919	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.75704	-0.96;-0.96	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89880	0.6843	M	0.91090	3.175	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	D	0.90623	0.4561	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	L	112	ENSP00000434610:R112L;ENSP00000299440:R112L	ENSP00000299440:R112L	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		PASS	0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		35	161	35	161	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322705	55322705	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:55322705T>C	ENST00000314644.2	+	1	923	c.923T>C	c.(922-924)aTa>aCa	p.I308T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I308T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTCCCATGCATATTTGTATAT	0.413										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(922-924)ATA>ACA		olfactory receptor, family 4, subfamily C,							246.0	240.0	242.0					11																	55322705		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322705T>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.923T>C	11.37:g.55322705T>C	ENSP00000324958:p.Ile308Thr	HNSCC(20;0.049)					p.I308T	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	923	+			254			Helical; Name=6; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.923T>C	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	9.479	1.097757	0.20552	.	.	ENSG00000181939	ENST00000314644	T	0.40756	1.02	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42063	0.1186	L	0.39566	1.225	0.09310	N	1	P	0.35307	0.494	B	0.41691	0.364	T	0.39881	-0.9592	9	0.54805	T	0.06	.	12.7227	0.57152	0.0:0.0:0.0:1.0	.	254	Q8NGM1	OR4CF_HUMAN	T	308	ENSP00000324958:I308T	ENSP00000324958:I308T	I	+	2	0	OR4C15	55079281	0.000000	0.05858	0.132000	0.22025	0.140000	0.21249	0.238000	0.18004	2.107000	0.64212	0.317000	0.21355	ATA		PASS	0.413	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		76	298	76	298	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55658883	55658883	+	Silent	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:55658883T>C	ENST00000449290.2	+	7	1226	c.1134T>C	c.(1132-1134)ttT>ttC	p.F378F	TRIM51_ENST00000244891.3_Silent_p.F235F	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	378	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.F219F(1)|p.F378F(1)									AGGGACTCTTTCTTCTTGGAT	0.443																																						uc010rip.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1132-1134)TTT>TTC		SPRY domain containing 5							29.0	31.0	30.0					11																	55658883		2104	4047	6151	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55658883T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1134T>C	11.37:g.55658883T>C						SPRYD5_uc010riq.1_Silent_p.F235F	p.F378F	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1226	+		all_epithelial(135;0.226)	378			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1134T>C																																																																																					PASS	0.443	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		22	89	22	89	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	55999725	55999725	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:55999725C>A	ENST00000313264.4	-	1	1012	c.937G>T	c.(937-939)Gtg>Ttg	p.V313L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V313L(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATATTGACACTATCATGTCA	0.393																																						uc010rjc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(937-939)GTG>TTG		olfactory receptor, family 5, subfamily T,							182.0	160.0	168.0					11																	55999725		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999725C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.937G>T	11.37:g.55999725C>A	ENSP00000323688:p.Val313Leu						p.V313L	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	937	-	Esophageal squamous(21;0.00448)		313			Helical; Name=7; (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.937G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052293	0.19827	.	.	ENSG00000181718	ENST00000313264	T	0.37235	1.21	5.07	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.192355	0.24915	U	0.034590	T	0.26919	0.0659	L	0.37507	1.11	0.09310	N	1	B	0.20550	0.046	B	0.28991	0.097	T	0.21109	-1.0255	10	0.62326	D	0.03	.	4.8994	0.13767	0.1492:0.6229:0.145:0.083	.	313	Q8NGG2	OR5T2_HUMAN	L	313	ENSP00000323688:V313L	ENSP00000323688:V313L	V	-	1	0	OR5T2	55756301	0.000000	0.05858	0.897000	0.35233	0.214000	0.24535	-0.013000	0.12678	1.271000	0.44313	0.478000	0.44815	GTG		PASS	0.393	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		45	251	45	251	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258303	56258303	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:56258303G>A	ENST00000327216.2	-	1	568	c.544C>T	c.(544-546)Cca>Tca	p.P182S		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTAATCAGTGGTGGGTCCGCA	0.463																																						uc001nix.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(544-546)CCA>TCA		olfactory receptor, family 5, subfamily M,							93.0	92.0	92.0					11																	56258303		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258303G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.544C>T	11.37:g.56258303G>A	ENSP00000323354:p.Pro182Ser						p.P182S	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	544	-	Esophageal squamous(21;0.00352)		182			Extracellular (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.544C>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750691	0.49257	.	.	ENSG00000181371	ENST00000327216	T	0.00202	8.56	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	N	0.001270	T	0.00412	0.0013	L	0.49640	1.575	0.09310	N	1	D	0.63046	0.992	D	0.67900	0.954	T	0.59182	-0.7502	10	0.72032	D	0.01	-8.0904	14.9018	0.70684	0.0:0.0:1.0:0.0	.	182	Q8NGP6	OR5M8_HUMAN	S	182	ENSP00000323354:P182S	ENSP00000323354:P182S	P	-	1	0	OR5M8	56014879	0.054000	0.20591	0.063000	0.19743	0.932000	0.56968	1.029000	0.30140	2.153000	0.67306	0.632000	0.83419	CCA		PASS	0.463	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		44	117	44	117	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995454	57995454	+	Missense_Mutation	SNP	C	C	A	rs569971760|rs149201883	byFrequency	TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:57995454C>A	ENST00000316770.2	-	1	936	c.894G>T	c.(892-894)agG>agT	p.R298S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R298S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CATCCTTGTTCCTAAGGCTGT	0.542																																						uc010rkd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(892-894)AGG>AGT		olfactory receptor, family 10, subfamily Q,							155.0	146.0	149.0					11																	57995454		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995454C>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.894G>T	11.37:g.57995454C>A	ENSP00000314324:p.Arg298Ser						p.R298S	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	894	-		Breast(21;0.0589)	298			Cytoplasmic (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.894G>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784141	0.49997	.	.	ENSG00000180475	ENST00000316770	T	0.39592	1.07	5.07	-0.245	0.13027	.	0.000000	0.36002	N	0.002850	T	0.57533	0.2060	M	0.83384	2.64	0.09310	N	0.999998	D	0.76494	0.999	D	0.69142	0.962	T	0.49615	-0.8921	10	0.87932	D	0	.	5.3219	0.15885	0.0:0.4538:0.1373:0.4089	.	298	Q8NGQ4	O10Q1_HUMAN	S	298	ENSP00000314324:R298S	ENSP00000314324:R298S	R	-	3	2	OR10Q1	57752030	0.003000	0.15002	0.213000	0.23690	0.790000	0.44656	-0.326000	0.07965	-0.192000	0.10432	0.650000	0.86243	AGG		PASS	0.542	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		46	216	46	216	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59224673	59224673	+	Missense_Mutation	SNP	G	G	T	rs139230114	byFrequency	TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:59224673G>T	ENST00000300127.2	+	1	263	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCGTCCCCAAGTTCCTGGTGG	0.448																																						uc010rku.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)AAG>AAT		olfactory receptor, family 4, subfamily D,							137.0	125.0	129.0					11																	59224673		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224673G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.240G>T	11.37:g.59224673G>T	ENSP00000300127:p.Lys80Asn						p.K80N	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	240	+			80			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.240G>T	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920955	0.33908	.	.	ENSG00000166884	ENST00000300127	T	0.00469	7.21	6.01	-0.236	0.13067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.00412	0.0013	M	0.73217	2.22	0.20307	N	0.999914	P	0.37423	0.594	B	0.37888	0.26	T	0.48990	-0.8985	10	0.62326	D	0.03	-18.2778	2.0736	0.03619	0.3374:0.116:0.4274:0.1192	.	80	Q8NGJ1	OR4D6_HUMAN	N	80	ENSP00000300127:K80N	ENSP00000300127:K80N	K	+	3	2	OR4D6	58981249	0.000000	0.05858	0.984000	0.44739	0.764000	0.43329	-1.652000	0.01988	-0.051000	0.13334	-0.136000	0.14681	AAG		PASS	0.448	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		49	188	49	188	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64390513	64390513	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:64390513G>C	ENST00000377551.1	-	20	4096	c.3885C>G	c.(3883-3885)atC>atG	p.I1295M	NRXN2_ENST00000265459.6_Missense_Mutation_p.I1295M|NRXN2_ENST00000409571.1_Missense_Mutation_p.I1288M|NRXN2_ENST00000377559.3_Missense_Mutation_p.I1225M|NRXN2_ENST00000301894.2_Missense_Mutation_p.I249M			Q9P2S2	NRX2A_HUMAN	neurexin 2	1295	Laminin G-like 6. {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.I249M(1)|p.I1295M(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						CCCCGATCTTGATGGCAGCCT	0.662																																						uc001oap.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(745-747)ATC>ATG		neurexin 2 isoform beta precursor							9.0	11.0	10.0					11																	64390513		2156	4241	6397	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64390513G>C		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.3885C>G	11.37:g.64390513G>C	ENSP00000366774:p.Ile1295Met					NRXN2_uc001oar.2_Missense_Mutation_p.I1295M|NRXN2_uc001oas.2_Missense_Mutation_p.I1225M|NRXN2_uc001oao.2_Translation_Start_Site|NRXN2_uc001oaq.2_Missense_Mutation_p.I962M	p.I249M	NM_138734	NP_620063	P58401	NRX2B_HUMAN			6	1258	-			249			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.747C>G	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176552	0.57692	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.80653	-1.23;-1.4;-1.4;-1.4;-1.4;-1.23	4.29	4.29	0.51040	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	0.144803	0.24081	U	0.041727	D	0.89860	0.6837	M	0.84683	2.71	0.45930	D	0.998766	D;D;B;P	0.58620	0.983;0.968;0.224;0.936	D;P;B;D	0.70016	0.967;0.892;0.407;0.929	D	0.91461	0.5189	10	0.87932	D	0	.	14.6501	0.68792	0.0:0.0:1.0:0.0	.	1225;1295;1041;249	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	M	249;1295;1225;1295;1225;1288;180	ENSP00000301894:I249M;ENSP00000366774:I1295M;ENSP00000366782:I1225M;ENSP00000265459:I1295M;ENSP00000386416:I1288M;ENSP00000407374:I180M	ENSP00000265459:I1295M	I	-	3	3	NRXN2	64147089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.845000	0.27668	2.385000	0.81259	0.561000	0.74099	ATC		PASS	0.662	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		7	17	7	17	---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70266527	70266527	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:70266527G>A	ENST00000301843.8	+	10	907	c.701G>A	c.(700-702)gGa>gAa	p.G234E	CTTN_ENST00000376561.3_Missense_Mutation_p.G234E|CTTN_ENST00000346329.3_Missense_Mutation_p.G234E|CTTN_ENST00000538675.1_5'Flank	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	234					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.G234E(3)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGTTTGGAGGAAAATTTGGT	0.443																																						uc001opv.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(700-702)GGA>GAA		cortactin isoform a							175.0	159.0	164.0					11																	70266527		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70266527G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.701G>A	11.37:g.70266527G>A	ENSP00000301843:p.Gly234Glu					CTTN_uc001opu.2_Missense_Mutation_p.G234E|CTTN_uc001opw.3_Missense_Mutation_p.G234E|CTTN_uc010rqm.1_5'UTR|CTTN_uc001opx.2_5'Flank	p.G234E	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	10	907	+			234			Cortactin 5.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.701G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829663	0.91036	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	T;T;T	0.64260	0.02;0.25;-0.09	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.83533	0.5275	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87347	0.2335	10	0.87932	D	0	-35.6476	18.6164	0.91304	0.0:0.0:1.0:0.0	.	234;234;234	Q96H99;Q14247;Q8N707	.;SRC8_HUMAN;.	E	234	ENSP00000317189:G234E;ENSP00000301843:G234E;ENSP00000365745:G234E	ENSP00000301843:G234E	G	+	2	0	CTTN	69944175	1.000000	0.71417	0.937000	0.37676	0.819000	0.46315	9.062000	0.93920	2.373000	0.80994	0.655000	0.94253	GGA		PASS	0.443	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		19	89	19	89	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087169	92087169	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:92087169G>C	ENST00000298047.6	+	1	1908	c.1891G>C	c.(1891-1893)Ggt>Cgt	p.G631R	FAT3_ENST00000541502.1_Missense_Mutation_p.G631R|FAT3_ENST00000409404.2_Missense_Mutation_p.G631R|FAT3_ENST00000525166.1_Missense_Mutation_p.G481R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G631R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGATTCTGGTGTTTTACA	0.373										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1891-1893)GGT>CGT		FAT tumor suppressor homolog 3							36.0	35.0	35.0					11																	92087169		1822	4072	5894	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087169G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1891G>C	11.37:g.92087169G>C	ENSP00000298047:p.Gly631Arg	TCGA Ovarian(4;0.039)					p.G631R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1908	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	631			Cadherin 6.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.1891G>C		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617131	0.66672	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.74	5.74	0.90152	.	.	.	.	.	T	0.81875	0.4915	H	0.95187	3.635	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86808	0.1996	9	0.87932	D	0	.	18.8971	0.92427	0.0:0.0:1.0:0.0	.	631	Q8TDW7-3	.	R	631;631;631;481	ENSP00000298047:G631R;ENSP00000387040:G631R;ENSP00000443786:G631R;ENSP00000432586:G481R	ENSP00000298047:G631R	G	+	1	0	FAT3	91726817	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.787000	0.99055	2.709000	0.92574	0.591000	0.81541	GGT		PASS	0.373	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	34	9	34	---	---	---	---
ZNF202	7753	broad.mit.edu	37	11	123601319	123601319	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:123601319T>A	ENST00000529691.1	-	2	497	c.278A>T	c.(277-279)cAa>cTa	p.Q93L	ZNF202_ENST00000336139.4_Missense_Mutation_p.Q93L|ZNF202_ENST00000530393.1_Missense_Mutation_p.Q93L			O95125	ZN202_HUMAN	zinc finger protein 202	93	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q93L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GGTAAGAAATTGTTCCAGCAC	0.557																																						uc001pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)CAA>CTA		zinc finger protein 202							106.0	105.0	105.0					11																	123601319		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601319T>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.278A>T	11.37:g.123601319T>A	ENSP00000433881:p.Gln93Leu					ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.Q93L|ZNF202_uc001pzf.1_Missense_Mutation_p.Q93L	p.Q93L	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	4	678	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	93			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.278A>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755886	0.69648	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	4.57	4.57	0.56435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.45361	D	0.000378	T	0.50786	0.1636	H	0.97023	3.925	0.38896	D	0.957216	D	0.58268	0.982	P	0.60068	0.868	T	0.69064	-0.5244	10	0.87932	D	0	-23.8441	11.9487	0.52942	0.0:0.0:0.0:1.0	.	93	O95125	ZN202_HUMAN	L	93	ENSP00000337724:Q93L;ENSP00000432504:Q93L;ENSP00000433881:Q93L;ENSP00000431223:Q93L	ENSP00000337724:Q93L	Q	-	2	0	ZNF202	123106529	0.997000	0.39634	0.996000	0.52242	0.751000	0.42716	2.972000	0.49256	1.920000	0.55613	0.374000	0.22700	CAA		PASS	0.557	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		27	109	27	109	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124767626	124767626	+	Silent	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr11:124767626G>A	ENST00000306534.3	-	1	551	c.66C>T	c.(64-66)atC>atT	p.I22I	ROBO4_ENST00000533054.1_5'UTR|ROBO4_ENST00000526899.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	22					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I22I(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTCACCCATGATGAGCAGGA	0.632																																						uc001qbg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(64-66)ATC>ATT		roundabout homolog 4, magic roundabout							79.0	73.0	75.0					11																	124767626		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124767626G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.66C>T	11.37:g.124767626G>A						ROBO4_uc010sas.1_5'UTR|ROBO4_uc001qbh.2_Silent_p.I22I|ROBO4_uc010sat.1_5'Flank	p.I22I	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	1	206	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	22					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.66C>T	CCDS8455.1																																																																																				PASS	0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		20	57	20	57	---	---	---	---
CCND2	894	broad.mit.edu	37	12	4383320	4383320	+	Silent	SNP	T	T	C	rs146122734	byFrequency	TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:4383320T>C	ENST00000261254.3	+	1	383	c.114T>C	c.(112-114)ctT>ctC	p.L38L	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	38	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.L38L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AGCGCTACCTTCCGCAGTGCT	0.657			T	IGL@	"""NHL,CLL"""																																	uc001qmo.2				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(112-114)CTT>CTC		cyclin D2							95.0	80.0	85.0					12																	4383320		2203	4300	6503	SO:0001819	synonymous_variant	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4383320T>C	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.114T>C	12.37:g.4383320T>C							p.L38L	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		1	419	+			38			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Silent	SNP	ENST00000261254.3	37	c.114T>C	CCDS8524.1																																																																																				PASS	0.657	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		16	81	16	81	---	---	---	---
CCND2	894	broad.mit.edu	37	12	4383326	4383326	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:4383326G>T	ENST00000261254.3	+	1	389	c.120G>T	c.(118-120)caG>caT	p.Q40H	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	40	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.Q40H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ACCTTCCGCAGTGCTCCTACT	0.652			T	IGL@	"""NHL,CLL"""																																	uc001qmo.2				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(118-120)CAG>CAT		cyclin D2							97.0	82.0	87.0					12																	4383326		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4383326G>T	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.120G>T	12.37:g.4383326G>T	ENSP00000261254:p.Gln40His						p.Q40H	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		1	425	+			40			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.120G>T	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993541	0.35131	.	.	ENSG00000118971	ENST00000261254	T	0.11495	2.77	4.17	2.33	0.28932	Cyclin, N-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.37630	1.12	0.54753	D	0.999989	B	0.02656	0.0	B	0.12837	0.008	T	0.13683	-1.0500	10	0.54805	T	0.06	.	8.8794	0.35365	0.2618:0.0:0.7382:0.0	.	40	P30279	CCND2_HUMAN	H	40	ENSP00000261254:Q40H	ENSP00000261254:Q40H	Q	+	3	2	CCND2	4253587	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.745000	0.26259	0.392000	0.25172	-0.424000	0.05967	CAG		PASS	0.652	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		17	85	17	85	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7479581	7479581	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:7479581G>A	ENST00000399422.4	+	12	1594	c.1546G>A	c.(1546-1548)Gct>Act	p.A516T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	516					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.A516T(2)		endometrium(6)|kidney(1)|lung(14)	21						GGTGGTGAAAGCTTTTGTTGT	0.363																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1546-1548)GCT>ACT		acyl-CoA synthetase medium-chain family member 4							66.0	60.0	62.0					12																	7479581		1847	4103	5950	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7479581G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1546G>A	12.37:g.7479581G>A	ENSP00000382349:p.Ala516Thr						p.A516T	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			12	1546	+			516					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1546G>A	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683202	0.68157	.	.	ENSG00000215009	ENST00000399422	T	0.73152	-0.72	2.55	2.55	0.30701	.	0.000000	0.38778	U	0.001568	D	0.88691	0.6505	H	0.98594	4.275	0.50171	D	0.999857	D	0.89917	1.0	D	0.77004	0.989	D	0.91098	0.4912	10	0.66056	D	0.02	-25.7814	11.2026	0.48749	0.0:0.0:1.0:0.0	.	516	P0C7M7	ACSM4_HUMAN	T	516	ENSP00000382349:A516T	ENSP00000382349:A516T	A	+	1	0	ACSM4	7370848	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.811000	0.86092	1.746000	0.51805	0.563000	0.77884	GCT		PASS	0.363	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		4	38	4	38	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7803649	7803649	+	Silent	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:7803649C>T	ENST00000229304.4	-	4	551	c.531G>A	c.(529-531)ttG>ttA	p.L177L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	177					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L177L(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCAGTGCGTACAACATCATCC	0.443																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(529-531)TTG>TTA		apolipoprotein B mRNA editing enzyme							154.0	139.0	144.0					12																	7803649		2203	4300	6503	SO:0001819	synonymous_variant	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803649C>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.531G>A	12.37:g.7803649C>T						APOBEC1_uc001qtc.2_Silent_p.L132L|APOBEC1_uc010sgf.1_Silent_p.L177L	p.L177L	NM_001644	NP_001635	P41238	ABEC1_HUMAN			4	565	-			177					Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	c.531G>A	CCDS8579.1																																																																																				PASS	0.443	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		57	184	57	184	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20799885	20799886	+	Splice_Site	DNP	GT	GT	TA			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:20799885_20799886GT>TA	ENST00000359062.3	+	12	2605		c.e12+1		PDE3A_ENST00000544307.1_Splice_Site	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.?(3)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCTCCTCAGGTAAATCTTTAG	0.406																																						uc001reh.1																			3	Unknown(3)		lung(3)	ovary(3)|upper_aerodigestive_tract(1)	4						c.e12+1|c.e12+2		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001630	splice_region_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799885G>T|g.chr12:20799886T>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	Exception_encountered	12.37:g.20799885_20799886delinsTA							p.Q855_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			12	2587	+	Esophageal squamous(101;0.125)	Breast(259;0.134)						O60865|Q13348|Q17RD1	Splice_Site	SNP	ENST00000359062.3	37	c.2565_splice	CCDS31754.1																																																																																				PASS	0.406	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		Intron	41|40	144	40	144	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49421838	49421838	+	Silent	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:49421838G>A	ENST00000301067.7	-	46	14468	c.14469C>T	c.(14467-14469)ccC>ccT	p.P4823P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4823					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P4823P(1)|p.P4553P(1)									CTGCCCGGGCGGGGCTCTCTG	0.622																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - coding silent(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(14467-14469)CCC>CCT		myeloid/lymphoid or mixed-lineage leukemia 2							45.0	51.0	49.0					12																	49421838		2056	4201	6257	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49421838G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14469C>T	12.37:g.49421838G>A		HNSCC(34;0.089)					p.P4823P	NM_003482	NP_003473	O14686	MLL2_HUMAN			46	14469	-			4823					O14687	Silent	SNP	ENST00000301067.7	37	c.14469C>T	CCDS44873.1																																																																																				PASS	0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	66	12	66	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445909	49445909	+	Silent	SNP	G	G	A	rs371020316		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:49445909G>A	ENST00000301067.7	-	10	1556	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	519	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P519P(2)									GTGGAGACAAGGGCGACTCCT	0.607																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - coding silent(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1555-1557)CCC>CCT		myeloid/lymphoid or mixed-lineage leukemia 2							48.0	54.0	52.0					12																	49445909		2064	4198	6262	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445909G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1557C>T	12.37:g.49445909G>A		HNSCC(34;0.089)					p.P519P	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	1557	-			519			15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.1557C>T	CCDS44873.1																																																																																				PASS	0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			15	54	15	54	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57974791	57974791	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:57974791G>T	ENST00000455537.2	+	24	2865	c.2591G>T	c.(2590-2592)cGa>cTa	p.R864L	KIF5A_ENST00000286452.5_Missense_Mutation_p.R775L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	864					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R864L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTGGAAAAACGACTTAGGGCT	0.557																																						uc001sor.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2590-2592)CGA>CTA		kinesin family member 5A							69.0	61.0	64.0					12																	57974791		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57974791G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2591G>T	12.37:g.57974791G>T	ENSP00000408979:p.Arg864Leu					KIF5A_uc010srr.1_Missense_Mutation_p.R775L	p.R864L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			24	2799	+			864					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2591G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296043	0.95574	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.78595	-1.19;-1.19	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.89649	0.3868	10	0.42905	T	0.14	.	17.5402	0.87845	0.0:0.0:1.0:0.0	.	775;864	B7Z2M7;Q12840	.;KIF5A_HUMAN	L	864;775	ENSP00000408979:R864L;ENSP00000286452:R775L	ENSP00000286452:R775L	R	+	2	0	KIF5A	56261058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.446000	0.97590	2.757000	0.94681	0.655000	0.94253	CGA		PASS	0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		11	41	11	41	---	---	---	---
CNOT2	4848	broad.mit.edu	37	12	70740017	70740017	+	Silent	SNP	A	A	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:70740017A>G	ENST00000418359.3	+	16	1900	c.1449A>G	c.(1447-1449)ccA>ccG	p.P483P	CNOT2_ENST00000229195.3_Silent_p.P483P|CNOT2_ENST00000551483.1_Silent_p.P134P	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	483	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.P483P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CCAGGGCACCAGGCATGGAGC	0.373																																						uc001svv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1447-1449)CCA>CCG		CCR4-NOT transcription complex, subunit 2							147.0	143.0	144.0					12																	70740017		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70740017A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1449A>G	12.37:g.70740017A>G						CNOT2_uc009zro.2_Silent_p.P483P|CNOT2_uc009zrp.2_Silent_p.P463P|CNOT2_uc009zrq.2_Silent_p.P483P	p.P483P	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		15	2028	+	Renal(347;0.236)		483					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.1449A>G	CCDS31857.1																																																																																				PASS	0.373	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			25	138	25	138	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116457205	116457205	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr12:116457205A>C	ENST00000281928.3	-	7	1039	c.833T>G	c.(832-834)aTg>aGg	p.M278R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	278						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.M278R(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGGGTAAACCATCCGAACACC	0.438																																						uc001tvw.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(832-834)ATG>AGG		mediator complex subunit 13-like							98.0	88.0	92.0					12																	116457205		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116457205A>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.833T>G	12.37:g.116457205A>C	ENSP00000281928:p.Met278Arg						p.M278R	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	7	888	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		278					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.833T>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190940	0.58017	.	.	ENSG00000123066	ENST00000281928	T	0.79352	-1.26	5.32	5.32	0.75619	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.128906	0.64402	D	0.000001	T	0.81814	0.4902	M	0.80422	2.495	0.58432	D	0.999997	P	0.47841	0.901	P	0.45377	0.478	D	0.85446	0.1158	10	0.87932	D	0	.	15.4542	0.75299	1.0:0.0:0.0:0.0	.	278	Q71F56	MD13L_HUMAN	R	278	ENSP00000281928:M278R	ENSP00000281928:M278R	M	-	2	0	MED13L	114941588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.403000	0.90208	2.238000	0.73509	0.477000	0.44152	ATG		PASS	0.438	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			16	82	16	82	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28601260	28601260	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr13:28601260A>T	ENST00000241453.7	-	17	2253	c.2172T>A	c.(2170-2172)agT>agA	p.S724R	FLT3_ENST00000537084.1_Missense_Mutation_p.S724R|FLT3_ENST00000380982.4_Missense_Mutation_p.S724R	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S724R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGGTAAAAACTGAAATTGT	0.383			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2170-2172)AGT>AGA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						176.0	180.0	179.0					13																	28601260		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28601260A>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2172T>A	13.37:g.28601260A>T	ENSP00000241453:p.Ser724Arg					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.S724R	p.S724R	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	17	2254	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	724			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2172T>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789931	0.70337	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78364	-1.11;-1.17;-0.95	6.03	-0.998	0.10212	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	0.77350	0.4117	L	0.31294	0.92	0.37957	D	0.932831	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.73569	-0.3941	10	0.23302	T	0.38	.	12.9552	0.58424	0.6297:0.0:0.3703:0.0	.	724;724	P36888-2;P36888	.;FLT3_HUMAN	R	724	ENSP00000241453:S724R;ENSP00000370369:S724R;ENSP00000438139:S724R	ENSP00000241453:S724R	S	-	3	2	FLT3	27499260	1.000000	0.71417	0.992000	0.48379	0.925000	0.55904	1.891000	0.39738	-0.044000	0.13491	-0.912000	0.02778	AGT		PASS	0.383	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			64	214	64	214	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36521578	36521578	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr13:36521578T>G	ENST00000360631.3	-	4	951	c.740A>C	c.(739-741)gAc>gCc	p.D247A	DCLK1_ENST00000379892.4_Missense_Mutation_p.D247A|DCLK1_ENST00000255448.4_Missense_Mutation_p.D247A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	247	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.D247A(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACCAAAAAAGTCCTGAAGGCA	0.423																																						uc001uvf.2																			2	Substitution - Missense(2)		lung(2)	stomach(6)|ovary(2)|skin(1)	9						c.(739-741)GAC>GCC		doublecortin-like kinase 1							88.0	80.0	83.0					13																	36521578		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36521578T>G	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.740A>C	13.37:g.36521578T>G	ENSP00000353846:p.Asp247Ala						p.D247A	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	4	973	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	247			Doublecortin 2.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.740A>C		.	.	.	.	.	.	.	.	.	.	T	19.45	3.829836	0.71258	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.94537	-3.45;-3.45;-3.45	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	L	0.53729	1.69	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.96766	0.9565	10	0.87932	D	0	.	16.1477	0.81583	0.0:0.0:0.0:1.0	.	247	O15075-2	.	A	247	ENSP00000255448:D247A;ENSP00000353846:D247A;ENSP00000369222:D247A	ENSP00000255448:D247A	D	-	2	0	DCLK1	35419578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.902000	0.75699	2.226000	0.72624	0.523000	0.50628	GAC		PASS	0.423	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		10	29	10	29	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23894936	23894936	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr14:23894936C>G	ENST00000355349.3	-	20	2416	c.2254G>C	c.(2254-2256)Gat>Cat	p.D752H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	752	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.D752H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGTTGTGATCAATGTCCAGG	0.498																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2254-2256)GAT>CAT		myosin, heavy chain 7, cardiac muscle, beta							130.0	113.0	119.0					14																	23894936		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894936C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2254G>C	14.37:g.23894936C>G	ENSP00000347507:p.Asp752His						p.D752H	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	20	2360	-	all_cancers(95;2.54e-05)		752			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2254G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706980	0.89018	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90324	-2.65	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.97012	0.9024	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98264	1.0500	9	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	752	P12883	MYH7_HUMAN	H	752	ENSP00000347507:D752H	ENSP00000347507:D752H	D	-	1	0	MYH7	22964776	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.345000	0.79337	2.531000	0.85337	0.655000	0.94253	GAT		PASS	0.498	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		24	137	24	137	---	---	---	---
DHRS4L2	317749	broad.mit.edu	37	14	24470139	24470139	+	Missense_Mutation	SNP	G	G	A	rs372826656		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr14:24470139G>A	ENST00000335125.6	+	4	602	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.R157Q|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000537912.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	157						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.R159Q(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		ATGGAGAAACGAGGGTACAGA	0.547																																						uc001wli.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)CGA>CAA		dehydrogenase/reductase (SDR family) member 4		G	GLN/ARG,GLN/ARG,,GLN/ARG	0,4392		0,0,2196	76.0	82.0	80.0		290,173,,476	2.8	1.0	14		80	1,8597		0,1,4298	no	missense,missense,intron,missense	DHRS4L2	NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3	43,43,,43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,,	97/171,58/132,,159/233	24470139	1,12989	2196	4299	6495	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24470139G>A		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.476G>A	14.37:g.24470139G>A	ENSP00000334801:p.Arg159Gln					DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Intron|DHRS4L2_uc010alb.2_Missense_Mutation_p.R33Q	p.R159Q	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	4	606	+			97					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.476G>A	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	16.90	3.251005	0.59212	0.0	1.16E-4	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000382755	T;T	0.51574	0.7;1.59	3.76	2.84	0.33178	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	N	0.05050	-0.12	0.80722	D	1	D;D	0.89917	0.971;1.0	B;D	0.72338	0.365;0.977	T	0.13656	-1.0501	10	0.14656	T	0.56	.	9.4753	0.38867	0.1148:0.0:0.8852:0.0	.	157;157	D3YTE6;Q6PKH6	.;DR4L2_HUMAN	Q	97;159;157	ENSP00000334801:R159Q;ENSP00000372203:R157Q	ENSP00000334801:R159Q	R	+	2	0	DHRS4L2	23539979	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	3.393000	0.52544	1.649000	0.50652	0.194000	0.17425	CGA		PASS	0.547	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			11	69	11	69	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75070376	75070376	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr14:75070376C>G	ENST00000261978.4	-	2	913	c.527G>C	c.(526-528)gGa>gCa	p.G176A	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.G176A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	176					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.G176A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGTTGTCCATCCTGGGCAGCA	0.562																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(526-528)GGA>GCA		latent transforming growth factor beta binding							365.0	252.0	290.0					14																	75070376		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75070376C>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.527G>C	14.37:g.75070376C>G	ENSP00000261978:p.Gly176Ala						p.G176A	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	2	914	-			176					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.527G>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063491	0.76187	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.93604	-3.25;-3.25	4.34	4.34	0.51931	.	0.000000	0.38005	N	0.001856	D	0.96864	0.8976	M	0.89715	3.055	0.34835	D	0.740055	D	0.76494	0.999	D	0.66847	0.947	D	0.99963	1.1790	10	0.87932	D	0	.	14.3724	0.66849	0.0:1.0:0.0:0.0	.	176	Q14767	LTBP2_HUMAN	A	176	ENSP00000261978:G176A;ENSP00000451477:G176A	ENSP00000261978:G176A	G	-	2	0	LTBP2	74140129	0.994000	0.37717	0.996000	0.52242	0.990000	0.78478	4.191000	0.58372	2.120000	0.65058	0.561000	0.74099	GGA		PASS	0.562	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		21	54	21	54	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105860993	105860993	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr14:105860993C>G	ENST00000325438.8	+	24	3158	c.2654C>G	c.(2653-2655)tCc>tGc	p.S885C	PACS2_ENST00000547217.1_Missense_Mutation_p.S855C|PACS2_ENST00000447393.1_Missense_Mutation_p.S889C|PACS2_ENST00000551743.1_Missense_Mutation_p.S399C|PACS2_ENST00000458164.2_Missense_Mutation_p.S900C|PACS2_ENST00000551801.1_Missense_Mutation_p.S86C|PACS2_ENST00000430725.2_Missense_Mutation_p.S810C			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	885					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.S885C(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TTCGGACACTCCAAGGCCACC	0.597																																						uc001yqt.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2653-2655)TCC>TGC		phosphofurin acidic cluster sorting protein 2							122.0	99.0	107.0					14																	105860993		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105860993C>G	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2654C>G	14.37:g.105860993C>G	ENSP00000321834:p.Ser885Cys					PACS2_uc001yqs.2_Missense_Mutation_p.S810C|PACS2_uc001yqv.2_Missense_Mutation_p.S889C|PACS2_uc001yqu.2_Missense_Mutation_p.S900C	p.S885C	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	24	2829	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	885					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2654C>G	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711182	0.68730	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.11	3.2	0.36748	.	0.284410	0.34828	N	0.003644	T	0.65709	0.2717	M	0.74258	2.255	0.43977	D	0.996667	D;D;D;D	0.89917	0.998;0.999;1.0;0.999	D;D;D;D	0.73380	0.98;0.971;0.972;0.934	T	0.68907	-0.5285	10	0.87932	D	0	-24.6502	12.0221	0.53350	0.1744:0.8256:0.0:0.0	.	889;900;885;886	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	C	810;885;900;889;855;399;86	ENSP00000393524:S810C;ENSP00000321834:S885C;ENSP00000399732:S900C;ENSP00000393559:S889C;ENSP00000449525:S855C;ENSP00000449254:S399C;ENSP00000447544:S86C	ENSP00000321834:S885C	S	+	2	0	PACS2	104932038	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.108000	0.50337	0.813000	0.34350	0.655000	0.94253	TCC		PASS	0.597	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		19	106	19	106	---	---	---	---
IGHV1-2	28474	broad.mit.edu	37	14	106453064	106453064	+	RNA	SNP	T	T	A	rs537060527		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr14:106453064T>A	ENST00000390594.2	-	0	106									immunoglobulin heavy variable 1-2																		CTCTTACCTGTGGCTGCTGCC	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							54.0	55.0	55.0					14																	106453064		1874	4100	5974			8755							g.chr14:106453064T>A	X07448		14q32.33	2012-02-08			ENSG00000211934	ENSG00000211934		"""Immunoglobulins / IGH locus"""	5550	other	immunoglobulin gene							Standard	NG_001019		Approved	V35			OTTHUMG00000152320		14.37:g.106453064T>A														1974		-									RNA	SNP	ENST00000390594.2	37	c.37775A>T																																																																																					PASS	0.552	IGHV1-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325882.1	NG_001019		11	15	11	15	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25220572	25220572	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:25220572G>T	ENST00000400100.1	+	8	961	c.71G>T	c.(70-72)gGc>gTc	p.G24V	SNRPN_ENST00000554227.2_Missense_Mutation_p.G28V|SNRPN_ENST00000346403.6_Missense_Mutation_p.G24V|SNRPN_ENST00000577565.1_Missense_Mutation_p.G24V|SNRPN_ENST00000390687.4_Missense_Mutation_p.G24V|SNRPN_ENST00000400098.1_Missense_Mutation_p.G24V|SNRPN_ENST00000400097.1_Missense_Mutation_p.G24V|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Missense_Mutation_p.G28V|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	24					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.G24V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGCAAGATGGCCGAATCTTC	0.418									Prader-Willi syndrome																													uc001ywp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)GGC>GTC		small nuclear ribonucleoprotein polypeptide N							177.0	169.0	172.0					15																	25220572		2203	4300	6503	SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25220572G>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.71G>T	15.37:g.25220572G>T	ENSP00000382972:p.Gly24Val					SNRPN_uc001ywq.1_Missense_Mutation_p.G24V|SNRPN_uc001ywr.1_Missense_Mutation_p.G24V|SNRPN_uc001yws.1_Missense_Mutation_p.G24V|SNRPN_uc001ywt.1_Missense_Mutation_p.G24V|SNRPN_uc001ywv.1_Missense_Mutation_p.G27V|SNRPN_uc001yww.1_Missense_Mutation_p.G24V|SNRPN_uc001ywx.1_Missense_Mutation_p.G24V|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.G24V	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	8	961	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	24					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.71G>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022342	0.54683	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	3.33	2.4	0.29515	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.061109	0.64402	D	0.000004	D	0.84795	0.5551	H	0.98849	4.35	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	D	0.86468	0.1783	10	0.87932	D	0	-3.041	8.9766	0.35939	0.1153:0.0:0.8847:0.0	.	28;24	B3KVR1;P63162	.;RSMN_HUMAN	V	24;24;24;28;24;28	ENSP00000382972:G24V;ENSP00000382970:G24V;ENSP00000382969:G24V;ENSP00000452342:G28V;ENSP00000375105:G24V;ENSP00000408767:G28V	ENSP00000375105:G24V	G	+	2	0	SNRPN	22771665	1.000000	0.71417	0.082000	0.20525	0.761000	0.43186	8.722000	0.91452	0.954000	0.37851	0.591000	0.81541	GGC		PASS	0.418	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		31	174	31	174	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31294542	31294542	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:31294542C>A	ENST00000256552.6	-	28	4508	c.4361G>T	c.(4360-4362)tGt>tTt	p.C1454F	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.C1432F|TRPM1_ENST00000542188.1_Missense_Mutation_p.C1471F	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.C1432F(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATTGTTTTACAAGCATTGAT	0.448																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(4294-4296)TGT>TTT		transient receptor potential cation channel,							111.0	102.0	105.0					15																	31294542		1847	4095	5942	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294542C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4361G>T	15.37:g.31294542C>A	ENSP00000256552:p.Cys1454Phe					TRPM1_uc010azy.2_Missense_Mutation_p.C1339F|TRPM1_uc001zfl.2_RNA	p.C1432F	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4423	-		all_lung(180;1.92e-11)	1432			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4295G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	0.882	-0.728265	0.03135	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.54675	0.58;0.56;0.59	4.18	-7.24	0.01475	.	1.845130	0.03001	N	0.148117	T	0.28797	0.0714	N	0.17082	0.46	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.12156	0.004;0.007	T	0.07947	-1.0746	10	0.42905	T	0.14	-0.0043	0.7285	0.00953	0.226:0.308:0.1203:0.3457	.	1426;1432	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	F	1432;1471;1454;1432	ENSP00000380897:C1432F;ENSP00000437849:C1471F;ENSP00000256552:C1454F	ENSP00000256552:C1454F	C	-	2	0	TRPM1	29081834	0.049000	0.20398	0.000000	0.03702	0.002000	0.02628	-0.439000	0.06897	-1.616000	0.01572	-0.840000	0.03056	TGT		PASS	0.448	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		52	222	52	222	---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34356323	34356323	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:34356323G>C	ENST00000383263.5	+	3	2075	c.1405G>C	c.(1405-1407)Gac>Cac	p.D469H	CHRM5_ENST00000557872.1_Missense_Mutation_p.D469H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	469					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D469H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TACCTTCTGTGACAAGTGTGT	0.507																																						uc001zhk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1405-1407)GAC>CAC		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						187.0	163.0	171.0					15																	34356323		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34356323G>C		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1405G>C	15.37:g.34356323G>C	ENSP00000372750:p.Asp469His					CHRM5_uc001zhl.1_Missense_Mutation_p.D469H	p.D469H	NM_012125	NP_036257	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	2075	+		all_lung(180;1.76e-08)	469			Extracellular (By similarity).		Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.1405G>C	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653155	0.47362	.	.	ENSG00000184984	ENST00000383263	T	0.36878	1.23	5.45	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.488214	0.23620	N	0.046253	T	0.37376	0.1001	L	0.47190	1.495	0.32030	N	0.599599	P	0.48640	0.913	P	0.50314	0.637	T	0.49293	-0.8955	10	0.66056	D	0.02	-14.4532	6.1248	0.20174	0.094:0.0:0.5783:0.3277	.	469	P08912	ACM5_HUMAN	H	469	ENSP00000372750:D469H	ENSP00000372750:D469H	D	+	1	0	CHRM5	32143615	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.663000	0.37429	2.835000	0.97688	0.650000	0.86243	GAC		PASS	0.507	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			30	162	30	162	---	---	---	---
DPH6	89978	broad.mit.edu	37	15	35746978	35746978	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:35746978G>C	ENST00000256538.4	-	4	382	c.356C>G	c.(355-357)tCt>tGt	p.S119C		NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	119					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)	p.S119C(1)									CTGATAGTCAGAAAGTATAGC	0.284																																						uc001zja.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)TCT>TGT		ATP binding domain 4 isoform 1							70.0	75.0	74.0					15																	35746978		2201	4288	6489	SO:0001583	missense	89978							g.chr15:35746978G>C		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.356C>G	15.37:g.35746978G>C	ENSP00000256538:p.Ser119Cys					ATPBD4_uc001ziz.2_Missense_Mutation_p.S103C	p.S119C	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	4	418	-		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)	119					B3KWG1|Q96HJ6	Missense_Mutation	SNP	ENST00000256538.4	37	c.356C>G	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216318	0.79352	.	.	ENSG00000134146	ENST00000256538	T	0.52983	0.64	4.93	4.93	0.64822	Domain of unknown function DUF71, ATP-binding domain (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88661	0.3189	10	0.87932	D	0	-17.9395	17.6694	0.88212	0.0:0.0:1.0:0.0	.	119	Q7L8W6	ATBD4_HUMAN	C	119	ENSP00000256538:S119C	ENSP00000256538:S119C	S	-	2	0	ATPBD4	33534270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.426000	0.90273	2.726000	0.93360	0.655000	0.94253	TCT		PASS	0.284	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650		28	166	28	166	---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43662013	43662013	+	Silent	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:43662013C>G	ENST00000396976.2	-	1	233	c.99G>C	c.(97-99)cgG>cgC	p.R33R	ZSCAN29_ENST00000562072.1_Silent_p.R32R|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000396972.1_Silent_p.R33R|TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000568898.1_Silent_p.R32R|ZSCAN29_ENST00000563508.1_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	33	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R33R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGAAAGCCTCCCGCGGCCCAG	0.542																																						uc001zrk.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(97-99)CGG>CGC		zinc finger protein 690							69.0	71.0	70.0					15																	43662013		2201	4299	6500	SO:0001819	synonymous_variant	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43662013C>G	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.99G>C	15.37:g.43662013C>G						ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.R32R|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.R32R|ZSCAN29_uc001zrm.2_Silent_p.R32R|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	p.R33R	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	1	246	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	33			SCAN box.		B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	c.99G>C	CCDS10095.2																																																																																				PASS	0.542	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		14	97	14	97	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43762214	43762214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:43762214G>A	ENST00000263801.3	-	11	1468	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q411*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q411*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q411*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	406					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.Q406*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGTTTCTTCTGAAAAGGCTCT	0.423								Other conserved DNA damage response genes																														uc001zrs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(1216-1218)CAG>TAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							141.0	138.0	139.0					15																	43762214		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43762214G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1216C>T	15.37:g.43762214G>A	ENSP00000263801:p.Gln406*					TP53BP1_uc010udp.1_Nonsense_Mutation_p.Q406*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Q411*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Q411*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Q411*	p.Q406*	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	11	1364	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	406					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.1216C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361962	0.95877	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	5.31	4.38	0.52667	.	0.482764	0.19096	N	0.122839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.495	12.9849	0.58586	0.0:0.1626:0.8374:0.0	.	.	.	.	X	406;411;411;411;411	.	ENSP00000263801:Q406X	Q	-	1	0	TP53BP1	41549506	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	3.729000	0.54999	1.209000	0.43321	0.563000	0.77884	CAG		PASS	0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			44	157	44	157	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53992045	53992045	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:53992045T>G	ENST00000396328.1	-	13	1906	c.1667A>C	c.(1666-1668)cAc>cCc	p.H556P	WDR72_ENST00000557913.1_Missense_Mutation_p.H553P|WDR72_ENST00000559418.1_Missense_Mutation_p.H566P|WDR72_ENST00000360509.5_Missense_Mutation_p.H556P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	556								p.H556P(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGGAAAAAGGTGCTTCCGGGC	0.468																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1666-1668)CAC>CCC		WD repeat domain 72							123.0	131.0	128.0					15																	53992045		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53992045T>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1667A>C	15.37:g.53992045T>G	ENSP00000379619:p.His556Pro					WDR72_uc010bfi.1_Missense_Mutation_p.H556P	p.H556P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1709	-			556			WD 8.		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1667A>C	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352479	0.82132	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.81163	-1.46;-1.46	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.79258	2.445	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90792	0.4687	10	0.87932	D	0	.	15.4793	0.75511	0.0:0.0:0.0:1.0	.	556	Q3MJ13	WDR72_HUMAN	P	556	ENSP00000379619:H556P;ENSP00000353699:H556P	ENSP00000353699:H556P	H	-	2	0	WDR72	51779337	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.997000	0.76270	2.311000	0.77944	0.533000	0.62120	CAC		PASS	0.468	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		71	250	71	250	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65623451	65623451	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:65623451C>T	ENST00000327987.4	-	9	1749	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	500	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.A500T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTGTGTAGGCCTTGATGTAG	0.607																																						uc002aos.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1498-1500)GCC>ACC		putative neuronal cell adhesion molecule							137.0	139.0	139.0					15																	65623451		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65623451C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1498G>A	15.37:g.65623451C>T	ENSP00000332773:p.Ala500Thr					IGDCC3_uc002aor.1_5'Flank	p.A500T	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			9	1750	-			500			Extracellular (Potential).|Fibronectin type-III 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1498G>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522325	0.96431	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.67523	-0.27	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.059211	0.64402	D	0.000002	D	0.85522	0.5716	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88742	0.3244	10	0.87932	D	0	-35.5017	18.6897	0.91578	0.0:1.0:0.0:0.0	.	500	Q8IVU1	IGDC3_HUMAN	T	500;363	ENSP00000332773:A500T	ENSP00000332773:A500T	A	-	1	0	IGDCC3	63410504	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.927000	0.70080	2.390000	0.81377	0.655000	0.94253	GCC		PASS	0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		51	247	51	247	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70351755	70351755	+	Silent	SNP	G	G	A	rs544102477		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:70351755G>A	ENST00000558939.1	-	10	2136	c.759C>T	c.(757-759)tcC>tcT	p.S253S	TLE3_ENST00000557907.1_Silent_p.S253S|TLE3_ENST00000539550.1_Silent_p.S197S|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000440567.3_Silent_p.S246S|TLE3_ENST00000317509.8_Silent_p.S253S|TLE3_ENST00000559929.1_Silent_p.S263S|TLE3_ENST00000451782.2_Silent_p.S253S|TLE3_ENST00000560589.1_Silent_p.S197S|TLE3_ENST00000442299.2_Silent_p.S253S|TLE3_ENST00000560939.1_Silent_p.S258S|TLE3_ENST00000558201.1_Silent_p.S259S|TLE3_ENST00000557997.1_Silent_p.S253S|TLE3_ENST00000559048.1_Silent_p.S258S|TLE3_ENST00000558379.1_Silent_p.S253S	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	253	CCN domain.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S253S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATACCTCATTGGAAACATCCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20585	0.0		0.0	False		,,,				2504	0.001					uc002asm.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(757-759)TCC>TCT		transducin-like enhancer protein 3 isoform a							122.0	126.0	125.0					15																	70351755		2014	4180	6194	SO:0001819	synonymous_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70351755G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.759C>T	15.37:g.70351755G>A						TLE3_uc002ask.2_Silent_p.S197S|TLE3_uc002asl.2_Silent_p.S258S|TLE3_uc010ukd.1_Silent_p.S246S|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Silent_p.S253S|TLE3_uc002asn.2_Silent_p.S253S|TLE3_uc002asp.2_Silent_p.S253S|TLE3_uc002aso.2_Silent_p.S253S	p.S253S	NM_005078	NP_005069	Q04726	TLE3_HUMAN			10	1878	-			253			CCN domain.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.759C>T	CCDS45293.1																																																																																				PASS	0.522	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		5	24	5	24	---	---	---	---
REC114	283677	broad.mit.edu	37	15	73843356	73843356	+	Silent	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:73843356T>C	ENST00000331090.6	+	4	439	c.411T>C	c.(409-411)gtT>gtC	p.V137V	C15orf60_ENST00000560581.1_Silent_p.V109V	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		137					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.V137V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GCAGTTGTGTTCAGAAGCTGG	0.502																																						uc002avq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(409-411)GTT>GTC		hypothetical protein LOC283677							76.0	79.0	78.0					15																	73843356		1971	4164	6135	SO:0001819	synonymous_variant	283677							g.chr15:73843356T>C																												ENST00000331090.6:c.411T>C	15.37:g.73843356T>C						C15orf60_uc010bjb.2_Silent_p.V109V	p.V137V	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN			4	439	+			137						Silent	SNP	ENST00000331090.6	37	c.411T>C	CCDS45296.1																																																																																				PASS	0.502	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			13	89	13	89	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77425619	77425619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr15:77425619G>A	ENST00000560626.2	-	6	4280	c.3805C>T	c.(3805-3807)Cag>Tag	p.Q1269*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.Q1269*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1269					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.Q1269*(2)									TGCGGCTTCTGGATGCCTCGG	0.512																																						uc002bcm.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(3805-3807)CAG>TAG		NKF3 kinase family member							95.0	95.0	95.0					15																	77425619		1868	4092	5960	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425619G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3805C>T	15.37:g.77425619G>A	ENSP00000452796:p.Gln1269*						p.Q1269*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	5	4113	-			1269					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.3805C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	43	10.201733	0.99358	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.51	5.51	0.81932	.	0.585005	0.19188	N	0.120487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-2.7848	17.5923	0.88000	0.0:0.0:1.0:0.0	.	.	.	.	X	1269	.	ENSP00000309230:Q1269X	Q	-	1	0	AC087465.1	75212674	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	7.187000	0.77730	2.595000	0.87683	0.655000	0.94253	CAG		PASS	0.512	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			46	122	46	122	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1545551	1545551	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr16:1545551C>A	ENST00000262319.6	+	3	819	c.540C>A	c.(538-540)ttC>ttA	p.F180L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	180					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.F180L(1)|p.F180F(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGAGTTCTTCCCCCAGAACT	0.672																																						uc002cly.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(538-540)TTC>TTA		TEL2, telomere maintenance 2, homolog							59.0	53.0	55.0					16																	1545551		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1545551C>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.540C>A	16.37:g.1545551C>A	ENSP00000262319:p.Phe180Leu					TELO2_uc010uvg.1_Missense_Mutation_p.F180L	p.F180L	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			3	831	+		Hepatocellular(780;0.219)	180					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.540C>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	0.539	-0.854619	0.02630	.	.	ENSG00000100726	ENST00000262319	D	0.82255	-1.59	5.33	-7.95	0.01148	.	0.732309	0.13787	N	0.362790	T	0.48132	0.1483	N	0.02674	-0.535	0.23972	N	0.996306	B	0.02656	0.0	B	0.01281	0.0	T	0.54043	-0.8352	10	0.10636	T	0.68	-3.0771	4.7311	0.12964	0.0952:0.1951:0.4677:0.242	.	180	Q9Y4R8	TELO2_HUMAN	L	180	ENSP00000262319:F180L	ENSP00000262319:F180L	F	+	3	2	TELO2	1485552	0.052000	0.20516	0.072000	0.20136	0.173000	0.22820	-0.352000	0.07701	-1.537000	0.01736	-0.825000	0.03093	TTC		PASS	0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		9	103	9	103	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1561094	1561094	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr16:1561094A>G	ENST00000426508.2	-	31	4603	c.4240T>C	c.(4240-4242)Tac>Cac	p.Y1414H	IFT140_ENST00000361339.5_Missense_Mutation_p.Y608H|LA16c-385E7.1_ENST00000566922.1_lincRNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1414					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.Y1414H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTCACGTAGTAGGACATG	0.652																																						uc002cmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(4240-4242)TAC>CAC		intraflagellar transport 140							31.0	30.0	31.0					16																	1561094		2196	4296	6492	SO:0001583	missense	9742							g.chr16:1561094A>G	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4240T>C	16.37:g.1561094A>G	ENSP00000406012:p.Tyr1414His					IFT140_uc002clz.2_Missense_Mutation_p.Y1027H	p.Y1414H	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			31	4602	-		Hepatocellular(780;0.219)	1414					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.4240T>C	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170378	0.57584	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.71934	0.69;-0.61	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000003	D	0.85053	0.5609	M	0.85299	2.745	0.51233	D	0.999919	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.87053	0.2148	10	0.54805	T	0.06	.	14.6671	0.68915	1.0:0.0:0.0:0.0	.	1414;1101	Q96RY7;B4DR58	IF140_HUMAN;.	H	1414;608;1414	ENSP00000354895:Y608H;ENSP00000406012:Y1414H	ENSP00000354895:Y608H	Y	-	1	0	IFT140	1501095	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.356000	0.79445	1.855000	0.53841	0.460000	0.39030	TAC		PASS	0.652	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		5	15	5	15	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29883585	29883585	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr16:29883585A>G	ENST00000308713.5	-	16	3153	c.2626T>C	c.(2626-2628)Ttc>Ctc	p.F876L	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.F845L|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.F819L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.F775L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	876					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.F819L(1)|p.F876L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGAAGCCGAAAAGGGACTTT	0.607																																						uc002duq.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2626-2628)TTC>CTC		seizure related 6 homolog (mouse)-like 2 isoform							47.0	47.0	47.0					16																	29883585		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29883585A>G	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2626T>C	16.37:g.29883585A>G	ENSP00000312550:p.Phe876Leu					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.F819L|SEZ6L2_uc002dur.3_Missense_Mutation_p.F806L|SEZ6L2_uc002dus.3_Missense_Mutation_p.F775L|SEZ6L2_uc010vec.1_Missense_Mutation_p.F889L|SEZ6L2_uc010ved.1_Missense_Mutation_p.F845L	p.F876L	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			16	2866	-			876			Cytoplasmic (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2626T>C	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	A	9.997	1.232333	0.22626	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.27720	1.78;1.65;1.74;1.77	5.43	5.43	0.79202	.	0.000000	0.52532	D	0.000067	T	0.18509	0.0444	N	0.02539	-0.55	0.49798	D	0.999826	B;P;P;D;P;D	0.59767	0.013;0.905;0.905;0.965;0.787;0.986	B;B;B;P;B;P	0.53035	0.029;0.423;0.423;0.63;0.332;0.716	T	0.13124	-1.0521	10	0.02654	T	1	.	14.4626	0.67462	1.0:0.0:0.0:0.0	.	845;889;775;806;876;819	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	L	819;876;775;845	ENSP00000310206:F819L;ENSP00000312550:F876L;ENSP00000319215:F775L;ENSP00000439412:F845L	ENSP00000312550:F876L	F	-	1	0	SEZ6L2	29791086	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	6.900000	0.75687	2.062000	0.61559	0.533000	0.62120	TTC		PASS	0.607	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		14	52	14	52	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49672053	49672053	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr16:49672053C>A	ENST00000561648.1	-	4	1063	c.1010G>T	c.(1009-1011)gGt>gTt	p.G337V	ZNF423_ENST00000562520.1_Missense_Mutation_p.G277V|ZNF423_ENST00000535559.1_Missense_Mutation_p.G220V|ZNF423_ENST00000262383.2_Missense_Mutation_p.G337V|ZNF423_ENST00000567169.1_Missense_Mutation_p.G220V|ZNF423_ENST00000563137.2_Missense_Mutation_p.G277V|ZNF423_ENST00000562871.1_Missense_Mutation_p.G277V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	337					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G337V(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCAGTAGACACCTTCCACTGA	0.617																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1009-1011)GGT>GTT		zinc finger protein 423							81.0	65.0	71.0					16																	49672053		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672053C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1010G>T	16.37:g.49672053C>A	ENSP00000455426:p.Gly337Val					ZNF423_uc010vgn.1_Missense_Mutation_p.G220V	p.G337V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1308	-		all_cancers(37;0.0155)	337			C2H2-type 8.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1010G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	9.444	1.088912	0.20390	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27557	1.66;1.66	5.0	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.160682	0.53938	D	0.000043	T	0.21590	0.0520	L	0.28054	0.825	0.58432	D	0.999999	B	0.29716	0.255	B	0.39531	0.302	T	0.10154	-1.0642	9	.	.	.	.	3.3996	0.07319	0.0:0.4095:0.0:0.5905	.	337	Q2M1K9	ZN423_HUMAN	V	337;220	ENSP00000262383:G337V;ENSP00000442321:G220V	.	G	-	2	0	ZNF423	48229554	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	4.208000	0.58486	0.998000	0.38996	0.561000	0.74099	GGT		PASS	0.617	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		8	41	8	41	---	---	---	---
TXNL4B	54957	broad.mit.edu	37	16	72122950	72122950	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr16:72122950C>G	ENST00000268483.3	-	3	541	c.220G>C	c.(220-222)Gac>Cac	p.D74H	TXNL4B_ENST00000423037.1_Missense_Mutation_p.D74H|RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_Missense_Mutation_p.D74H	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	74					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)		p.D74H(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TAACTGATGTCAAAATACTGT	0.378																																						uc002fca.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)GAC>CAC		thioredoxin-like 4B							150.0	141.0	144.0					16																	72122950		2198	4300	6498	SO:0001583	missense	54957				mitosis|mRNA processing|RNA splicing	spliceosomal complex		g.chr16:72122950C>G	BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.220G>C	16.37:g.72122950C>G	ENSP00000268483:p.Asp74His					TXNL4B_uc010cgl.2_RNA|TXNL4B_uc010vmn.1_Missense_Mutation_p.D74H|TXNL4B_uc010vmo.1_Missense_Mutation_p.D74H	p.D74H	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN			3	531	-			74					D3DWS6	Missense_Mutation	SNP	ENST00000268483.3	37	c.220G>C	CCDS10906.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402095	0.83230	.	.	ENSG00000140830	ENST00000268483;ENST00000426362;ENST00000423037	.	.	.	4.29	4.29	0.51040	Thioredoxin-like fold (2);	0.096343	0.64402	D	0.000001	T	0.64907	0.2641	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.69165	-0.5217	9	0.87932	D	0	.	14.6149	0.68541	0.0:1.0:0.0:0.0	.	74	Q9NX01	TXN4B_HUMAN	H	74	.	ENSP00000268483:D74H	D	-	1	0	TXNL4B	70680451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	2.382000	0.81193	0.561000	0.74099	GAC		PASS	0.378	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853		40	184	40	184	---	---	---	---
NUDT7	283927	broad.mit.edu	37	16	77775789	77775789	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr16:77775789T>C	ENST00000268533.5	+	4	728	c.659T>C	c.(658-660)tTa>tCa	p.L220S	NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.L167S|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	220					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.L220S(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						AATGATGTATTAGCATCCTCT	0.378																																						uc010chd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(658-660)TTA>TCA		nudix motif 7							65.0	60.0	62.0					16																	77775789		1828	4087	5915	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775789T>C	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.659T>C	16.37:g.77775789T>C	ENSP00000268533:p.Leu220Ser					NUDT7_uc010vnj.1_Missense_Mutation_p.L167S	p.L220S	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN			4	728	+			220					B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.659T>C	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	T	4.768	0.142867	0.09083	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.46819	1.42;0.86	5.39	0.465	0.16711	.	0.720360	0.13550	N	0.379562	T	0.29914	0.0748	L	0.29908	0.895	0.09310	N	1	P;P	0.38078	0.617;0.536	B;B	0.33960	0.173;0.164	T	0.12091	-1.0561	10	0.72032	D	0.01	-0.3746	6.0938	0.20008	0.0:0.1487:0.4089:0.4424	.	167;220	B4DLE5;P0C024	.;NUDT7_HUMAN	S	220;167	ENSP00000268533:L220S;ENSP00000387707:L167S	ENSP00000268533:L220S	L	+	2	0	NUDT7	76333290	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.645000	0.24782	-0.200000	0.10300	-0.478000	0.04885	TTA		PASS	0.378	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			41	151	41	151	---	---	---	---
KIAA0513	9764	broad.mit.edu	37	16	85111096	85111096	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr16:85111096A>T	ENST00000566428.1	+	6	1271	c.640A>T	c.(640-642)Aaa>Taa	p.K214*	KIAA0513_ENST00000538274.1_Nonsense_Mutation_p.K214*|KIAA0513_ENST00000258180.3_Nonsense_Mutation_p.K214*|KIAA0513_ENST00000567328.1_Nonsense_Mutation_p.K214*			O60268	K0513_HUMAN	KIAA0513	214						cytoplasm (GO:0005737)		p.K214*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTCCTACCTGAAATCCGCAAA	0.607																																						uc002fiu.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(640-642)AAA>TAA		hypothetical protein LOC9764							41.0	46.0	44.0					16																	85111096		2198	4300	6498	SO:0001587	stop_gained	9764					cytoplasm		g.chr16:85111096A>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.640A>T	16.37:g.85111096A>T	ENSP00000457408:p.Lys214*					KIAA0513_uc002fis.3_Nonsense_Mutation_p.K214*|KIAA0513_uc010voj.1_Nonsense_Mutation_p.K214*|KIAA0513_uc002fit.2_Nonsense_Mutation_p.K214*	p.K214*	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	6	860	+			214					B4DSS5|D3DUM2|Q8N6G0	Nonsense_Mutation	SNP	ENST00000566428.1	37	c.640A>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	A	37	6.301953	0.97458	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	.	.	.	5.4	5.4	0.78164	.	0.372818	0.31847	N	0.006978	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4379	14.267	0.66126	1.0:0.0:0.0:0.0	.	.	.	.	X	214	.	ENSP00000258180:K214X	K	+	1	0	KIAA0513	83668597	1.000000	0.71417	0.995000	0.50966	0.209000	0.24338	4.207000	0.58480	2.044000	0.60594	0.459000	0.35465	AAA		PASS	0.607	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		8	47	8	47	---	---	---	---
GSDMB	55876	broad.mit.edu	37	17	38073396	38073396	+	Silent	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr17:38073396C>T	ENST00000394179.1	-	2	304	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GSDMB_ENST00000309481.7_Silent_p.L58L|GSDMB_ENST00000394175.2_Silent_p.L58L|GSDMB_ENST00000360317.3_Silent_p.L58L|GSDMB_ENST00000418519.1_Silent_p.L58L|GSDMB_ENST00000520542.1_Silent_p.L58L			Q8TAX9	GSDMB_HUMAN	gasdermin B	58						cytoplasm (GO:0005737)		p.L58L(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GAATGTCCATCAGGGTGAGGC	0.517																																						uc010cwj.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|pancreas(1)	2						c.(172-174)CTG>CTA		gasdermin B isoform 1							170.0	150.0	156.0					17																	38073396		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38073396C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.174G>A	17.37:g.38073396C>T						GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Silent_p.L58L|GSDMB_uc002hth.2_Silent_p.L58L|GSDMB_uc010wem.1_Silent_p.L58L	p.L58L	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN			1	179	-			58					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.174G>A																																																																																					PASS	0.517	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		29	127	29	127	---	---	---	---
KRT20	54474	broad.mit.edu	37	17	39034494	39034494	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr17:39034494G>A	ENST00000167588.3	-	6	1083	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	348	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R348C(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGTTCTGGCGTTCCATGTTA	0.498																																						uc002hvl.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	large_intestine(1)|kidney(1)|skin(1)	3						c.(1042-1044)CGC>TGC		keratin 20							257.0	212.0	227.0					17																	39034494		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034494G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1042C>T	17.37:g.39034494G>A	ENSP00000167588:p.Arg348Cys						p.R348C	NM_019010	NP_061883	P35900	K1C20_HUMAN			6	1084	-		Breast(137;0.000301)|Ovarian(249;0.15)	348			Rod.|Coil 2.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.1042C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403549	0.62288	.	.	ENSG00000171431	ENST00000167588	D	0.90197	-2.63	5.0	2.87	0.33458	Filament (1);	1.078380	0.07107	N	0.841408	D	0.93423	0.7902	L	0.58510	1.815	0.39044	D	0.960199	D	0.89917	1.0	D	0.65773	0.938	D	0.88110	0.2825	10	0.56958	D	0.05	.	9.1452	0.36928	0.0771:0.0:0.777:0.1459	.	348	P35900	K1C20_HUMAN	C	348	ENSP00000167588:R348C	ENSP00000167588:R348C	R	-	1	0	KRT20	36288020	0.360000	0.24964	0.863000	0.33907	0.037000	0.13140	0.882000	0.28186	1.100000	0.41517	0.591000	0.81541	CGC		PASS	0.498	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			66	190	66	190	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77073513	77073513	+	Splice_Site	SNP	A	A	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr17:77073513A>T	ENST00000579016.1	+	2	148	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	50						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.I50F(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TTTGCTTAGCATCAAAGATGA	0.423																																						uc002jwv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(148-150)ATC>TTC		endo-beta-N-acetylglucosaminidase							66.0	64.0	65.0					17																	77073513		1856	4084	5940	SO:0001630	splice_region_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073513A>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.147-1A>T	17.37:g.77073513A>T						ENGASE_uc002jwu.1_Missense_Mutation_p.I50F|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	p.I50F	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			2	156	+			50					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.148A>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	1.784	-0.481089	0.04383	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.4	2.13	0.27403	.	1.139420	0.06478	N	0.732276	T	0.40619	0.1124	L	0.45581	1.43	0.23653	N	0.997191	P;P	0.39157	0.531;0.662	B;B	0.42422	0.118;0.387	T	0.36040	-0.9764	9	0.59425	D	0.04	-26.1758	5.6385	0.17550	0.6948:0.0:0.3052:0.0	.	50;50	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	F	50	.	ENSP00000308158:I50F	I	+	1	0	ENGASE	74585108	0.000000	0.05858	0.074000	0.20217	0.006000	0.05464	0.221000	0.17680	0.638000	0.30545	0.460000	0.39030	ATC		PASS	0.423	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	Missense_Mutation	6	56	6	56	---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77705076	77705076	+	Nonsense_Mutation	SNP	C	C	T	rs199868387		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr17:77705076C>T	ENST00000328313.5	+	1	396	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.R59*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCATGGCCCGAGACGGGGT	0.632																																						uc002jxa.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(175-177)CGA>TGA		ectonucleotide pyrophosphatase/phosphodiesterase		C	stop/ARG	0,4406		0,0,2203	57.0	49.0	51.0		175	2.4	0.0	17		51	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	ENPP7	NM_178543.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		59/459	77705076	2,13004	2203	4300	6503	SO:0001587	stop_gained	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705076C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.175C>T	17.37:g.77705076C>T	ENSP00000332656:p.Arg59*						p.R59*	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	195	+			59						Nonsense_Mutation	SNP	ENST00000328313.5	37	c.175C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	36	5.912061	0.97099	0.0	2.33E-4	ENSG00000182156	ENST00000328313	.	.	.	4.36	2.36	0.29203	.	1.465520	0.04006	N	0.297322	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.6632	1.2501	0.01980	0.2678:0.4127:0.14:0.1795	.	.	.	.	X	59	.	ENSP00000332656:R59X	R	+	1	2	ENPP7	75319671	0.000000	0.05858	0.001000	0.08648	0.680000	0.39746	-0.207000	0.09384	0.472000	0.27344	0.561000	0.74099	CGA		PASS	0.632	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		6	18	6	18	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48581243	48581243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr18:48581243C>T	ENST00000342988.3	+	5	1085	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q183*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q183*|SMAD4_ENST00000452201.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	183					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.?(3)|p.Q183*(2)		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)		TCAAACCATCCAGCATCCACC	0.468																																						uc010xdp.1																			41	Whole gene deletion(36)|Unknown(3)|Substitution - Nonsense(2)	p.0?(35)|p.?(3)	pancreas(26)|large_intestine(3)|stomach(3)|lung(3)|breast(3)|upper_aerodigestive_tract(1)|biliary_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.(547-549)CAG>TAG		mothers against decapentaplegic homolog 4							214.0	150.0	172.0					18																	48581243		2203	4300	6503	SO:0001587	stop_gained	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.chr18:48581243C>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.547C>T	18.37:g.48581243C>T	ENSP00000341551:p.Gln183*					SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Nonsense_Mutation_p.Q28*	p.Q183*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	5	1085	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	183					A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.547C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.523712	0.99195	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.3335	0.94306	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000341551:Q183X	Q	+	1	0	SMAD4	46835241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.937000	0.99478	0.650000	0.86243	CAG		PASS	0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		48	152	48	152	---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66344308	66344308	+	Silent	SNP	T	T	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr18:66344308T>G	ENST00000299608.2	-	16	1543	c.1227A>C	c.(1225-1227)cgA>cgC	p.R409R		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	409					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.R409R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACTTCATATCGTTCTTCTA	0.458																																						uc002lkf.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1225-1227)CGA>CGC		thioredoxin domain containing 10 precursor							192.0	167.0	175.0					18																	66344308		2203	4300	6503	SO:0001819	synonymous_variant	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66344308T>G	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1227A>C	18.37:g.66344308T>G						TMX3_uc010xez.1_Silent_p.R268R	p.R409R	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN			16	1362	-			409			Cytoplasmic (Potential).		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	ENST00000299608.2	37	c.1227A>C	CCDS32840.1																																																																																				PASS	0.458	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		42	182	42	182	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9085145	9085145	+	Missense_Mutation	SNP	C	C	G	rs373571868		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr19:9085145C>G	ENST00000397910.4	-	1	6873	c.6670G>C	c.(6670-6672)Gca>Cca	p.A2224P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2224	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.A2224P(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGACCTGCGCTGTTTACT	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6670-6672)GCA>CCA		mucin 16							117.0	112.0	114.0					19																	9085145		1982	4169	6151	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085145C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6670G>C	19.37:g.9085145C>G	ENSP00000381008:p.Ala2224Pro						p.A2224P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6874	-			2224			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6670G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.203	0.036503	0.08148	.	.	ENSG00000181143	ENST00000397910	T	0.02863	4.13	0.225	0.225	0.15325	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.72338	0.977	T	0.45086	-0.9285	7	0.87932	D	0	.	.	.	.	.	2224	B5ME49	.	P	2224	ENSP00000381008:A2224P	ENSP00000381008:A2224P	A	-	1	0	MUC16	8946145	0.156000	0.22821	0.193000	0.23327	0.296000	0.27459	0.673000	0.25203	0.300000	0.22699	0.305000	0.20034	GCA		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	62	28	62	---	---	---	---
OR10H1	26539	broad.mit.edu	37	19	15918457	15918457	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr19:15918457G>T	ENST00000334920.2	-	1	479	c.391C>A	c.(391-393)Cgc>Agc	p.R131S		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131S(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACGTTGTAGCGCAGGGGGTGG	0.632																																						uc002nbq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)CGC>AGC		olfactory receptor, family 10, subfamily H,							65.0	53.0	57.0					19																	15918457		2203	4300	6503	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918457G>T	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.391C>A	19.37:g.15918457G>T	ENSP00000335596:p.Arg131Ser						p.R131S	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	480	-			131			Cytoplasmic (Potential).		Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.391C>A	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	14.77	2.635815	0.47049	.	.	ENSG00000186723	ENST00000334920	T	0.02216	4.39	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.128247	0.35838	N	0.002947	T	0.05823	0.0152	M	0.82433	2.59	0.33582	D	0.600009	B	0.18310	0.027	B	0.14023	0.01	T	0.01309	-1.1389	10	0.56958	D	0.05	.	15.1534	0.72720	0.0:0.0:1.0:0.0	.	131	Q9Y4A9	O10H1_HUMAN	S	131	ENSP00000335596:R131S	ENSP00000335596:R131S	R	-	1	0	OR10H1	15779457	1.000000	0.71417	0.995000	0.50966	0.723000	0.41478	5.934000	0.70138	2.169000	0.68431	0.643000	0.83706	CGC		PASS	0.632	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			11	24	11	24	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42839328	42839328	+	Missense_Mutation	SNP	G	G	T	rs201282412		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr19:42839328G>T	ENST00000251268.6	+	4	700	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	MEGF8_ENST00000334370.4_Missense_Mutation_p.A234S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	234					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.A234S(2)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCAGCTGGCGCCTTCCTGTC	0.652																																						uc002otl.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(700-702)GCC>TCC		multiple EGF-like-domains 8							29.0	36.0	33.0					19																	42839328		2018	4171	6189	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42839328G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.700G>T	19.37:g.42839328G>T	ENSP00000251268:p.Ala234Ser					MEGF8_uc002otm.3_5'Flank	p.A234S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			4	1335	+		Prostate(69;0.00682)	234			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.700G>T		.	.	.	.	.	.	.	.	.	.	G	18.74	3.689331	0.68271	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.63913	-0.07;-0.07	5.27	5.27	0.74061	.	.	.	.	.	T	0.58793	0.2147	L	0.27053	0.805	0.80722	D	1	P	0.50819	0.939	P	0.52424	0.698	T	0.53648	-0.8409	9	0.22109	T	0.4	.	14.4064	0.67086	0.0:0.0:1.0:0.0	.	234	Q7Z7M0-2	.	S	234	ENSP00000334219:A234S;ENSP00000251268:A234S	ENSP00000251268:A234S	A	+	1	0	MEGF8	47531168	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	6.295000	0.72744	2.478000	0.83669	0.479000	0.44913	GCC		PASS	0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		13	21	13	21	---	---	---	---
PSG11	5680	broad.mit.edu	37	19	43523115	43523115	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr19:43523115C>G	ENST00000401740.1	-	3	619	c.516G>C	c.(514-516)gaG>gaC	p.E172D	PSG11_ENST00000306322.7_Missense_Mutation_p.E50D|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.E50D|PSG11_ENST00000320078.7_Missense_Mutation_p.E172D			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	172	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E172D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CGTCCGGAGTCTCAGGATTAC	0.517																																						uc002ovm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(514-516)GAG>GAC		pregnancy specific beta-1-glycoprotein 11							253.0	256.0	255.0					19																	43523115		2200	4297	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523115C>G	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.516G>C	19.37:g.43523115C>G	ENSP00000384995:p.Glu172Asp					PSG11_uc002ouw.2_Missense_Mutation_p.E178D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.E178D|PSG11_uc002ovn.1_Missense_Mutation_p.E178D|PSG11_uc002ovo.1_Missense_Mutation_p.E50D|PSG11_uc002ovp.1_Missense_Mutation_p.E50D	p.E172D	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	623	-		Prostate(69;0.00682)	172			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.516G>C	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	1.320	-0.599815	0.03744	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	0.379	-0.758	0.11049	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06096	0.0158	N	0.20845	0.615	0.09310	N	1	B;B	0.18166	0.003;0.026	B;B	0.30401	0.046;0.115	T	0.45659	-0.9246	8	0.22706	T	0.39	.	.	.	.	.	50;172	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	D	172;50;50;172	ENSP00000319140:E172D;ENSP00000385427:E50D;ENSP00000304913:E50D;ENSP00000384995:E172D	ENSP00000304913:E50D	E	-	3	2	PSG11	48214955	0.001000	0.12720	0.021000	0.16686	0.010000	0.07245	0.009000	0.13219	-1.386000	0.02098	-1.271000	0.01417	GAG		PASS	0.517	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		90	375	90	375	---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51453310	51453310	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr19:51453310T>A	ENST00000336334.3	-	3	488	c.136A>T	c.(136-138)Agc>Tgc	p.S46C	CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.S46C|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.S46C	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	46				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S46C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TCCTGGTTGCTCCCAGAGGGC	0.617																																						uc002pue.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)AGC>TGC		kallikrein-related peptidase 5 preproprotein							42.0	40.0	41.0					19																	51453310		2203	4300	6503	SO:0001583	missense	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453310T>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.136A>T	19.37:g.51453310T>A	ENSP00000337733:p.Ser46Cys					KLK5_uc002puf.2_Missense_Mutation_p.S46C|KLK5_uc002pug.2_Missense_Mutation_p.S46C	p.S46C	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	4	354	-		all_neural(266;0.026)	46	Missing (in Ref. 3; AAG33358).				Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	c.136A>T	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	t	14.90	2.672674	0.47781	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.89485	-2.52;-2.52	4.38	3.36	0.38483	.	0.521868	0.14284	U	0.329337	T	0.79713	0.4493	N	0.24115	0.695	0.09310	N	1	P	0.46327	0.876	B	0.40101	0.319	T	0.70773	-0.4781	10	0.62326	D	0.03	.	6.3993	0.21630	0.0:0.1121:0.0:0.8879	.	46	Q9Y337	KLK5_HUMAN	C	46	ENSP00000337733:S46C;ENSP00000375685:S46C	ENSP00000337733:S46C	S	-	1	0	KLK5	56145122	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.040000	0.13905	0.719000	0.32188	0.533000	0.62120	AGC		PASS	0.617	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		6	22	6	22	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51958757	51958757	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr19:51958757A>T	ENST00000321424.3	-	4	1032	c.966T>A	c.(964-966)gaT>gaA	p.D322E	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.D213E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.D229E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	322	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.D322E(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATTCCCCTTCATCCCTCACGT	0.652																																						uc002pwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(964-966)GAT>GAA		sialic acid binding Ig-like lectin 8 precursor							55.0	52.0	53.0					19																	51958757		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958757A>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.966T>A	19.37:g.51958757A>T	ENSP00000321077:p.Asp322Glu					SIGLEC8_uc010yda.1_Missense_Mutation_p.D213E|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.D229E	p.D322E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	1033	-		all_neural(266;0.0199)	322			Extracellular (Potential).|Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.966T>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	0.195	-1.050255	0.01981	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.42900	0.96;0.96;0.96	2.19	-1.29	0.09288	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.789077	0.10317	N	0.689239	T	0.40347	0.1113	M	0.87827	2.91	0.09310	N	1	P;B;B	0.36086	0.536;0.328;0.345	B;B;B	0.33392	0.145;0.155;0.163	T	0.30851	-0.9964	10	0.21540	T	0.41	.	5.7073	0.17915	0.5276:0.0:0.4724:0.0	.	213;229;322	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	213;322;229	ENSP00000389142:D213E;ENSP00000321077:D322E;ENSP00000339448:D229E	ENSP00000321077:D322E	D	-	3	2	SIGLEC8	56650569	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.535000	0.06142	-0.427000	0.07350	0.411000	0.27672	GAT		PASS	0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		12	24	12	24	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55592768	55592768	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr19:55592768C>G	ENST00000201647.6	+	8	738	c.682C>G	c.(682-684)Ccg>Gcg	p.P228A	EPS8L1_ENST00000540810.1_Missense_Mutation_p.P164A|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Missense_Mutation_p.P210A|EPS8L1_ENST00000245618.5_Missense_Mutation_p.P101A|EPS8L1_ENST00000588359.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	228					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)	p.P228A(1)|p.P210A(1)|p.P101A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAGGCCTGAGCCGGTGGGGAC	0.726																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.3																			3	Substitution - Missense(3)		lung(3)		0						c.(682-684)CCG>GCG		epidermal growth factor receptor pathway							11.0	12.0	12.0					19																	55592768		2179	4265	6444	SO:0001583	missense	54869					cytoplasm		g.chr19:55592768C>G	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.682C>G	19.37:g.55592768C>G	ENSP00000201647:p.Pro228Ala					EPS8L1_uc010ess.1_Missense_Mutation_p.P210A|EPS8L1_uc010est.1_Missense_Mutation_p.P228A|EPS8L1_uc010yfr.1_Missense_Mutation_p.P164A|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.P101A|EPS8L1_uc002qiv.2_5'Flank|EPS8L1_uc002qiw.2_5'Flank	p.P228A	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	8	786	+			228					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.682C>G	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	9.601	1.128724	0.21041	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.05786	3.64;3.42;3.39	2.88	-1.25	0.09405	.	2.971230	0.01519	N	0.018268	T	0.06050	0.0157	L	0.42245	1.32	0.09310	N	0.999996	B;B;B;B	0.15930	0.001;0.013;0.015;0.001	B;B;B;B	0.12156	0.002;0.006;0.007;0.002	T	0.39313	-0.9620	10	0.08837	T	0.75	1.8495	5.592	0.17307	0.2135:0.3668:0.4196:0.0	.	164;210;101;228	B4DKV7;Q8TE68-3;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	A	210;228;164;101	ENSP00000201647:P228A;ENSP00000437541:P164A;ENSP00000245618:P101A	ENSP00000201647:P228A	P	+	1	0	EPS8L1	60284580	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.426000	0.21363	0.085000	0.17107	0.462000	0.41574	CCG		PASS	0.726	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		4	7	4	7	---	---	---	---
BPIFA3	128861	broad.mit.edu	37	20	31814274	31814274	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr20:31814274T>A	ENST00000375454.3	+	5	809	c.599T>A	c.(598-600)cTc>cAc	p.L200H	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.L164H	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	200						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L200H(1)									CAAAAAGTTCTCCCACACATG	0.423																																						uc002wyr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(598-600)CTC>CAC		short long palate, lung and nasal epithelium							89.0	82.0	85.0					20																	31814274		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31814274T>A		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.599T>A	20.37:g.31814274T>A	ENSP00000364603:p.Leu200His					C20orf71_uc002wys.2_Missense_Mutation_p.L164H	p.L200H	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			5	807	+			200					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.599T>A	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420328	0.25552	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.10192	2.9;2.9	3.78	2.67	0.31697	.	0.540328	0.15541	N	0.256976	T	0.12561	0.0305	N	0.14661	0.345	0.23712	N	0.997044	D;D	0.69078	0.997;0.997	P;P	0.61397	0.821;0.888	T	0.09840	-1.0656	10	0.87932	D	0	-5.6177	6.0263	0.19656	0.0:0.1173:0.0:0.8827	.	164;200	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	H	200;164	ENSP00000364603:L200H;ENSP00000364601:L164H	ENSP00000364601:L164H	L	+	2	0	BPIFA3	31277935	0.713000	0.27926	0.784000	0.31847	0.045000	0.14185	0.256000	0.18351	0.811000	0.34303	0.379000	0.24179	CTC		PASS	0.423	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		50	125	50	125	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37531333	37531333	+	Silent	SNP	C	C	T	rs200868467		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr20:37531333C>T	ENST00000299824.1	+	6	783	c.594C>T	c.(592-594)aaC>aaT	p.N198N	PPP1R16B_ENST00000373331.2_Silent_p.N198N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	198					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.N198N(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGAAAATCAACGAGATGCGGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23299	0.0		0.0	False		,,,				2504	0.0					uc002xje.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(592-594)AAC>AAT		protein phosphatase 1 regulatory inhibitor							124.0	106.0	112.0					20																	37531333		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37531333C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.594C>T	20.37:g.37531333C>T						PPP1R16B_uc010ggc.2_Silent_p.N198N	p.N198N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			6	783	+		Myeloproliferative disorder(115;0.00878)	198					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.594C>T	CCDS13309.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	6.685	0.494902	0.12702	.	.	ENSG00000101445	ENST00000438192	.	.	.	4.42	-8.41	0.00961	.	.	.	.	.	T	0.65471	0.2694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73020	-0.4114	4	.	.	.	.	18.74	0.91770	0.0:0.2111:0.0:0.7889	.	.	.	.	M	141	.	.	T	+	2	0	PPP1R16B	36964747	0.000000	0.05858	0.236000	0.24074	0.880000	0.50808	-2.046000	0.01409	-2.379000	0.00595	-2.048000	0.00412	ACG		PASS	0.587	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		93	122	93	122	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51870996	51870996	+	Silent	SNP	C	C	T	rs138194448		TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr20:51870996C>T	ENST00000371497.5	+	2	1886	c.999C>T	c.(997-999)ccC>ccT	p.P333P	TSHZ2_ENST00000603338.2_Silent_p.P330P|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.P330P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	333					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P333P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTTCCCCCGATTCAACCA	0.483																																						uc002xwo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(997-999)CCC>CCT		teashirt zinc finger homeobox 2		C	,	5,4401	9.9+/-24.2	0,5,2198	80.0	89.0	86.0		990,999	-11.6	0.1	20	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,	330/1032,333/1035	51870996	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870996C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.999C>T	20.37:g.51870996C>T							p.P333P	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1955	+			333					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.999C>T	CCDS33490.1																																																																																				PASS	0.483	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		166	158	166	158	---	---	---	---
LZTR1	8216	broad.mit.edu	37	22	21337317	21337317	+	Splice_Site	SNP	C	C	G			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr22:21337317C>G	ENST00000215739.8	+	2	561	c.202C>G	c.(202-204)Cgc>Ggc	p.R68G	LZTR1_ENST00000389355.3_Splice_Site_p.R68G|XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	68					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R68C(1)|p.R68G(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCTTTCCAGGCGCAGCAAGCA	0.542																																						uc002zto.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|lung(2)	4						c.(202-204)CGC>GGC		leucine-zipper-like transcription regulator 1							120.0	108.0	112.0					22																	21337317		2203	4300	6503	SO:0001630	splice_region_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21337317C>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.201-1C>G	22.37:g.21337317C>G						LZTR1_uc002ztn.2_Missense_Mutation_p.R27G|LZTR1_uc011ahy.1_Missense_Mutation_p.R68G	p.R68G	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	305	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	68					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.202C>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374379	0.82573	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.73789	-0.78;0.12	4.42	3.41	0.39046	.	0.053684	0.85682	D	0.000000	T	0.81744	0.4887	L	0.58810	1.83	0.80722	D	1	D;P;D	0.89917	1.0;0.628;0.975	D;B;P	0.85130	0.997;0.336;0.723	T	0.82508	-0.0422	10	0.87932	D	0	-29.4678	10.2866	0.43570	0.0:0.903:0.0:0.097	.	68;68;27	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	G	27;68;68	ENSP00000215739:R68G;ENSP00000374006:R68G	ENSP00000215739:R68G	R	+	1	0	LZTR1	19667317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.276000	0.65580	1.221000	0.43506	0.561000	0.74099	CGC		PASS	0.542	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Missense_Mutation	22	90	22	90	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26695130	26695130	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr22:26695130G>A	ENST00000248933.6	+	5	1438	c.1343G>A	c.(1342-1344)tGc>tAc	p.C448Y	SEZ6L_ENST00000403121.1_Missense_Mutation_p.C221Y|SEZ6L_ENST00000402979.1_Missense_Mutation_p.C221Y|SEZ6L_ENST00000404234.3_Missense_Mutation_p.C448Y|SEZ6L_ENST00000343706.4_Missense_Mutation_p.C448Y|SEZ6L_ENST00000360929.3_Missense_Mutation_p.C448Y|SEZ6L_ENST00000529632.2_Missense_Mutation_p.C448Y			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	448	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.C448Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGCCCATCTGCTCAGGTATG	0.582																																						uc003acb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1342-1344)TGC>TAC		seizure related 6 homolog (mouse)-like							20.0	18.0	18.0					22																	26695130		2203	4299	6502	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26695130G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1343G>A	22.37:g.26695130G>A	ENSP00000248933:p.Cys448Tyr					SEZ6L_uc003acc.2_Missense_Mutation_p.C448Y|SEZ6L_uc011akc.1_Missense_Mutation_p.C448Y|SEZ6L_uc003acd.2_Missense_Mutation_p.C448Y|SEZ6L_uc011akd.1_Missense_Mutation_p.C448Y|SEZ6L_uc003ace.2_Missense_Mutation_p.C448Y|SEZ6L_uc003acf.1_Missense_Mutation_p.C221Y|SEZ6L_uc010gvc.1_Missense_Mutation_p.C221Y	p.C448Y	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			5	1499	+			448			Sushi 1.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1343G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800603	0.70567	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.55	4.55	0.56014	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000010	D	0.99869	0.9938	H	0.97265	3.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.96305	0.9224	10	0.87932	D	0	.	16.4906	0.84200	0.0:0.0:1.0:0.0	.	448;448;221;448;448;448;448	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	Y	448;448;448;448;448;221;221	ENSP00000384772:C448Y;ENSP00000437037:C448Y;ENSP00000354185:C448Y;ENSP00000248933:C448Y;ENSP00000342661:C448Y;ENSP00000384838:C221Y;ENSP00000384733:C221Y	ENSP00000248933:C448Y	C	+	2	0	SEZ6L	25025130	1.000000	0.71417	0.998000	0.56505	0.731000	0.41821	8.906000	0.92626	2.345000	0.79718	0.561000	0.74099	TGC		PASS	0.582	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			3	6	3	6	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29924107	29924107	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr22:29924107C>A	ENST00000490103.1	-	11	1148	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Missense_Mutation_p.K342N|THOC5_ENST00000397873.2_Missense_Mutation_p.K342N|THOC5_ENST00000397871.1_Missense_Mutation_p.K342N	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	342					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.K342N(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGGTGCCTCTTCAGCATCT	0.527																																						uc003afr.2																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1024-1026)AAG>AAT		THO complex 5							136.0	120.0	125.0					22																	29924107		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29924107C>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1026G>T	22.37:g.29924107C>A	ENSP00000420306:p.Lys342Asn					THOC5_uc003afq.2_Missense_Mutation_p.K3N|THOC5_uc003afs.2_Missense_Mutation_p.K342N|THOC5_uc003aft.2_Missense_Mutation_p.K342N|THOC5_uc003afu.2_Missense_Mutation_p.K342N|THOC5_uc010gvo.2_Missense_Mutation_p.K86N	p.K342N	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			12	1361	-			342					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1026G>T	CCDS13859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245118|3.245118	0.59103|0.59103	.|.	.|.	ENSG00000100296|ENSG00000100296	ENST00000443089|ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	.|T;T;T;T	.|0.25414	.|1.8;1.8;1.8;1.8	4.99|4.99	3.97|3.97	0.46021|0.46021	.|.	.|0.045544	.|0.85682	.|D	.|0.000000	.|T	.|0.29093	.|0.0723	M|M	0.62723|0.62723	1.935|1.935	0.51482|0.51482	D|D	0.999927|0.999927	.|P	.|0.38677	.|0.642	.|B	.|0.43225	.|0.412	.|T	.|0.03249	.|-1.1056	.|10	.|0.29301	.|T	.|0.29	-31.3125|-31.3125	9.0959|9.0959	0.36638|0.36638	0.0:0.8322:0.0:0.1678|0.0:0.8322:0.0:0.1678	.|.	.|342	.|Q13769	.|THOC5_HUMAN	X|N	213|342	.|ENSP00000420306:K342N;ENSP00000380970:K342N;ENSP00000380969:K342N;ENSP00000380971:K342N	.|ENSP00000380969:K342N	E|K	-|-	1|3	0|2	THOC5|THOC5	28254107|28254107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.060000|2.060000	0.41394|0.41394	1.318000|1.318000	0.45170|0.45170	0.552000|0.552000	0.68991|0.68991	GAG|AAG		PASS	0.527	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		37	104	37	104	---	---	---	---
SOX10	6663	broad.mit.edu	37	22	38369863	38369863	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr22:38369863G>A	ENST00000396884.2	-	4	1322	c.1040C>T	c.(1039-1041)cCa>cTa	p.P347L	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.P347L	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	347					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)	p.P347L(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CACACCAGGTGGTGAGACCGT	0.672																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	uc003aun.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1039-1041)CCA>CTA		SRY (sex determining region Y)-box 10							45.0	47.0	46.0					22																	38369863		2203	4300	6503	SO:0001583	missense	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38369863G>A		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1040C>T	22.37:g.38369863G>A	ENSP00000380093:p.Pro347Leu					POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P347L	p.P347L	NM_006941	NP_008872	P56693	SOX10_HUMAN			4	1318	-	Melanoma(58;0.045)		347					B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	c.1040C>T	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300387	0.23650	.	.	ENSG00000100146	ENST00000396884;ENST00000360880	D;D	0.98633	-5.04;-5.04	4.34	4.34	0.51931	.	0.353955	0.27595	N	0.018673	D	0.96772	0.8946	L	0.42245	1.32	0.51482	D	0.999929	B	0.02656	0.0	B	0.04013	0.001	D	0.95227	0.8339	10	0.33141	T	0.24	.	17.0513	0.86519	0.0:0.0:1.0:0.0	.	347	P56693	SOX10_HUMAN	L	347	ENSP00000380093:P347L;ENSP00000354130:P347L	ENSP00000354130:P347L	P	-	2	0	SOX10	36699809	1.000000	0.71417	0.997000	0.53966	0.413000	0.31143	6.358000	0.73055	2.249000	0.74217	0.455000	0.32223	CCA		PASS	0.672	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		11	55	11	55	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675151	21675151	+	Silent	SNP	G	G	A			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chrX:21675151G>A	ENST00000379499.2	-	1	1297	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	252						extracellular space (GO:0005615)		p.I252I(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGGCCTGGATGATGAGGCCCT	0.687																																						uc004czz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(754-756)ATC>ATT		kelch-like 34							19.0	20.0	19.0					X																	21675151		2200	4296	6496	SO:0001819	synonymous_variant	257240							g.chrX:21675151G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.756C>T	X.37:g.21675151G>A							p.I252I	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1298	-			252						Silent	SNP	ENST00000379499.2	37	c.756C>T	CCDS14199.1																																																																																				PASS	0.687	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		7	9	7	9	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312768	37312768	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chrX:37312768G>C	ENST00000542554.1	+	5	823	c.551G>C	c.(550-552)aGt>aCt	p.S184T	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Missense_Mutation_p.S184T|PRRG1_ENST00000543642.1_Missense_Mutation_p.S184T|PRRG1_ENST00000378628.4_Missense_Mutation_p.S184T|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	184						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S184T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CTGCAGAGGAGTGAAACAGAA	0.532																																						uc004ddn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(550-552)AGT>ACT		proline rich Gla (G-carboxyglutamic acid) 1							84.0	65.0	72.0					X																	37312768		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312768G>C	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.551G>C	X.37:g.37312768G>C	ENSP00000444278:p.Ser184Thr					PRRG1_uc004ddo.2_Missense_Mutation_p.S184T	p.S184T	NM_000950	NP_000941	O14668	TMG1_HUMAN			5	804	+			184			Cytoplasmic (Potential).		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.551G>C	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493620	0.26774	.	.	ENSG00000130962	ENST00000378628;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	5.96	5.09	0.68999	.	0.156095	0.56097	D	0.000025	D	0.96361	0.8813	L	0.51422	1.61	0.29521	N	0.853508	B	0.26635	0.155	B	0.23018	0.043	D	0.92975	0.6401	10	0.35671	T	0.21	-8.3051	7.9704	0.30124	0.0815:0.0:0.7573:0.1612	.	184	O14668	TMG1_HUMAN	T	184	ENSP00000367894:S184T;ENSP00000444278:S184T;ENSP00000443271:S184T;ENSP00000390332:S184T	ENSP00000367894:S184T	S	+	2	0	PRRG1	37197689	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	0.539000	0.23175	1.255000	0.44051	0.600000	0.82982	AGT		PASS	0.532	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		14	35	14	35	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685455	125685455	+	Silent	SNP	G	G	C	rs149056465	byFrequency	TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chrX:125685455G>C	ENST00000371126.1	-	1	1379	c.1137C>G	c.(1135-1137)gcC>gcG	p.A379A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	379								p.A379A(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGAATTTCTGGGCCCGGACGT	0.632																																						uc004eul.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(1135-1137)GCC>GCG		DDB1 and CUL4 associated factor 12-like 1							42.0	44.0	43.0					X																	125685455		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685455G>C	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1137C>G	X.37:g.125685455G>C							p.A379A	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1388	-			379			WD 4.		Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.1137C>G	CCDS14610.1																																																																																				PASS	0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		24	46	24	46	---	---	---	---
ZBTB37	84614	broad.mit.edu	37	1	173836247	173836248	+	5'Flank	INS	-	-	A	rs144869587	byFrequency	TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr1:173836247_173836248insA	ENST00000367701.5	+	0	0				ZBTB37_ENST00000427304.1_5'Flank|GAS5_ENST00000363840.1_RNA|ZBTB37_ENST00000432989.1_5'Flank|GAS5_ENST00000364084.1_RNA|GAS5_ENST00000385578.2_RNA|ZBTB37_ENST00000367702.1_5'Flank|GAS5_ENST00000363146.1_RNA|ZBTB37_ENST00000367704.1_5'Flank|GAS5_ENST00000364822.2_RNA|GAS5_ENST00000363859.1_RNA|GAS5_ENST00000365524.1_RNA|SNORD78_ENST00000385582.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GAGTGTTCTTTAAAAAAACGGT	0.381													AAAAAAA|AAAAAAA|AAAAAAAA|insertion	962	0.192093	0.0424	0.2378	5008	,	,		21310	0.2758		0.2346	False		,,,				2504	0.2321					uc001gji.2																			0					0								Homo sapiens mRNA; cDNA DKFZp564D0164 (from clone DKFZp564D0164).																																				SO:0001631	upstream_gene_variant	60674							g.chr1:173836247_173836248insA	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173836254_173836254dupA	Exception_encountered					GAS5_uc001gjj.2_Intron|GAS5_uc001gjk.2_Intron|SNORD81_uc009wwi.1_5'Flank|SNORD47_uc001gjl.2_5'Flank|SNORD80_uc009wwj.1_5'Flank|SNORD79_uc009wwk.1_5'Flank|SNORD78_uc009wwl.2_5'Flank|SNORD44_uc001gjn.1_5'Flank|SNORD77_uc009wwm.1_5'Flank|SNORD76_uc009wwn.1_5'Flank|SNORD75_uc009wwo.1_5'Flank|ZBTB37_uc001gjp.1_5'Flank|ZBTB37_uc001gjq.3_5'Flank|ZBTB37_uc009wwp.1_5'Flank|ZBTB37_uc001gjr.2_5'Flank								1		-								Q5TC80|Q96M87|Q9BQ88	RNA	INS	ENST00000367701.5	37	c.1_2insT	CCDS44278.1																																																																																					0.381	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		7	4	7	4	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7620360	7620361	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr3:7620360_7620361insT	ENST00000357716.4	+	8	2041_2042	c.1767_1768insT	c.(1768-1770)tggfs	p.W590fs	GRM7_ENST00000402647.2_Frame_Shift_Ins_p.W590fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.W590fs|GRM7_ENST00000403881.1_Frame_Shift_Ins_p.W590fs|GRM7_ENST00000486284.1_Frame_Shift_Ins_p.W590fs	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	590					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGCACTCCCCCTGGGCTGTGAT	0.53																																						uc003bqm.2																			0				ovary(4)|lung(3)	7						c.(1765-1770)CCCTGGfs		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620360_7620361insT	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1768dupT	3.37:g.7620361_7620361dupT	ENSP00000350348:p.Trp590fs					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Frame_Shift_Ins_p.P589fs|GRM7_uc003bql.2_Frame_Shift_Ins_p.P589fs|GRM7_uc003bqn.1_Frame_Shift_Ins_p.P172fs|GRM7_uc010hch.1_Frame_Shift_Ins_p.P100fs	p.P589fs	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2041_2042	+			589_590			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Frame_Shift_Ins	INS	ENST00000357716.4	37	c.1767_1768insT	CCDS43042.1																																																																																					0.530	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		83	37	83	37	---	---	---	---
TAS2R40	259286	broad.mit.edu	37	7	142919990	142919990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2780-01A-01D-1522-08	TCGA-66-2780-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d088bd17-a1a0-4bd9-bfe1-d57b5725c53b	2ceee15a-1eca-47f3-8c33-6daeaf8fca69	g.chr7:142919990delT	ENST00000408947.3	+	1	861	c.819delT	c.(817-819)actfs	p.T273fs	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	273					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCTTTGACACTTACAGTTCCT	0.478																																						uc011ksx.1																			0				ovary(1)	1						c.(817-819)ACTfs		taste receptor, type 2, member 40							114.0	112.0	113.0					7																	142919990		1926	4150	6076	SO:0001589	frameshift_variant	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919990delT	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.819delT	7.37:g.142919990delT	ENSP00000386210:p.Thr273fs						p.T273fs	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	819	+	Melanoma(164;0.059)		273			Extracellular (Potential).		A4D2I2|Q645W6	Frame_Shift_Del	DEL	ENST00000408947.3	37	c.819delT	CCDS43662.1																																																																																					0.478	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			213	99	213	99	---	---	---	---
