#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
TAS1R1	80835	broad.mit.edu	37	1	6637114	6637114	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:6637114C>A	ENST00000333172.6	+	5	1771	c.1578C>A	c.(1576-1578)acC>acA	p.T526T	TAS1R1_ENST00000351136.3_Silent_p.T272T|TAS1R1_ENST00000328191.4_Intron|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	526					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.T526T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGGCTGGGACCTTCCTCAACA	0.617																																						uc001ant.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1576-1578)ACC>ACA		sweet taste receptor T1r isoform b							118.0	107.0	111.0					1																	6637114		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6637114C>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1578C>A	1.37:g.6637114C>A						TAS1R1_uc001anu.2_Silent_p.T272T|TAS1R1_uc001anv.2_Silent_p.T272T|TAS1R1_uc001anw.2_Intron|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.T526T	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	5	1578	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	526			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.1578C>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841000	0.16891	.	.	ENSG00000173662	ENST00000415267	.	.	.	4.67	0.301	0.15781	.	.	.	.	.	T	0.42359	0.1199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	.	1.9973	0.03459	0.157:0.5038:0.1525:0.1867	.	.	.	.	H	198	.	.	P	+	2	0	TAS1R1	6559701	0.947000	0.32204	0.992000	0.48379	0.950000	0.60333	0.050000	0.14120	-0.258000	0.09446	0.491000	0.48974	CCT		PASS	0.617	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			4	19	4	19	---	---	---	---
PINK1	65018	broad.mit.edu	37	1	20975099	20975099	+	Missense_Mutation	SNP	G	G	C	rs574890623		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:20975099G>C	ENST00000321556.4	+	6	1319	c.1225G>C	c.(1225-1227)Gga>Cga	p.G409R	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.		G -> V (in PARK6). {ECO:0000269|PubMed:16401616}.		activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G409R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGATCGGGGCGGAAACGGCTG	0.627																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1225-1227)GGA>CGA		PTEN induced putative kinase 1 precursor							67.0	62.0	64.0					1																	20975099		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20975099G>C	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1225G>C	1.37:g.20975099G>C	ENSP00000364204:p.Gly409Arg					PINK1_uc001bdn.2_Missense_Mutation_p.G102R	p.G409R	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1319	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	409		G -> V (in PARK6).	Protein kinase.|Cytoplasmic (Potential).		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.1225G>C	CCDS211.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144306	0.94603	.	.	ENSG00000158828	ENST00000321556	D	0.81739	-1.53	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93807	0.7106	10	0.87932	D	0	-4.1894	16.3795	0.83443	0.0:0.0:1.0:0.0	.	102;409	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	R	409	ENSP00000364204:G409R	ENSP00000364204:G409R	G	+	1	0	PINK1	20847686	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	6.969000	0.76092	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.627	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		5	28	5	28	---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524860	26524860	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:26524860C>A	ENST00000456354.2	+	6	829	c.762C>A	c.(760-762)ctC>ctA	p.L254L		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	254					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L254L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TGTACACCCTCTTCATCTGCA	0.522																																						uc010oez.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(760-762)CTC>CTA		cation channel, sperm associated 4							162.0	159.0	160.0					1																	26524860		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524860C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.762C>A	1.37:g.26524860C>A						CATSPER4_uc010oey.1_Silent_p.L76L|CATSPER4_uc009vsf.2_RNA	p.L254L	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	762	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	254					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.762C>A	CCDS30645.1																																																																																				PASS	0.522	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		6	104	6	104	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37356697	37356697	+	Splice_Site	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:37356697C>A	ENST00000373091.3	-	2	132	c.116G>T	c.(115-117)gGa>gTa	p.G39V	GRIK3_ENST00000373093.4_Splice_Site_p.G39V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	39					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.G39V(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GAAGATTCCTCCTGTGAAAGA	0.502																																						uc001caz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(115-117)GGA>GTA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						168.0	161.0	163.0					1																	37356697		2203	4300	6503	SO:0001630	splice_region_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356697C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.116-1G>T	1.37:g.37356697C>A						GRIK3_uc001cba.1_Missense_Mutation_p.G39V	p.G39V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			2	251	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	39			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.116G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105334	0.94245	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.52295	0.67;0.67	5.83	5.83	0.93111	.	0.298433	0.30989	N	0.008467	T	0.52419	0.1733	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.973;0.981	T	0.63256	-0.6678	10	0.87932	D	0	.	20.1224	0.97967	0.0:1.0:0.0:0.0	.	39;39	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	39	ENSP00000362183:G39V;ENSP00000362185:G39V	ENSP00000362183:G39V	G	-	2	0	GRIK3	37129284	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.811000	0.86092	2.749000	0.94314	0.650000	0.86243	GGA		PASS	0.502	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	Missense_Mutation	5	89	5	89	---	---	---	---
RAVER2	55225	broad.mit.edu	37	1	65296547	65296547	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:65296547G>T	ENST00000294428.3	+	12	2033	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	RAVER2_ENST00000430964.2_Missense_Mutation_p.R191L|RAVER2_ENST00000371072.4_Missense_Mutation_p.R639L			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	652						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R639L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AATGAAAAGCGAGGCTCATCA	0.358																																						uc001dbs.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1915-1917)CGA>CTA		ribonucleoprotein, PTB-binding 2							133.0	124.0	127.0					1																	65296547		1863	4099	5962	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65296547G>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1955G>T	1.37:g.65296547G>T	ENSP00000294428:p.Arg652Leu					RAVER2_uc001dbt.1_Missense_Mutation_p.R531L|RAVER2_uc010opb.1_Missense_Mutation_p.R364L	p.R639L	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			12	1994	+			652					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1916G>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.186600	0.78789	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.63744	-0.06;0.6	4.42	4.42	0.53409	.	0.171100	0.36665	N	0.002467	T	0.69151	0.3079	L	0.53249	1.67	0.37546	D	0.918485	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.73757	-0.3882	10	0.72032	D	0.01	-30.5867	14.979	0.71299	0.0:0.0:1.0:0.0	.	652;639	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	L	639;652;191	ENSP00000360112:R639L;ENSP00000294428:R652L	ENSP00000294428:R652L	R	+	2	0	RAVER2	65069135	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.643000	0.67895	2.290000	0.77057	0.462000	0.41574	CGA		PASS	0.358	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		4	106	4	106	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86523649	86523649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:86523649C>A	ENST00000370571.2	-	10	2182	c.1816G>T	c.(1816-1818)Gga>Tga	p.G606*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.G606*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	606	Collagen-like 2.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G606*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTTCTGGTCCAGCTAAACCC	0.333																																						uc001dlj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1816-1818)GGA>TGA		collagen, type XXIV, alpha 1 precursor							101.0	93.0	96.0					1																	86523649		1864	4088	5952	SO:0001587	stop_gained	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86523649C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1816G>T	1.37:g.86523649C>A	ENSP00000359603:p.Gly606*					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Nonsense_Mutation_p.G606*	p.G606*	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	10	1858	-			606			Collagen-like 2.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.1816G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	40	8.289773	0.98745	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.64	5.64	0.86602	.	0.000000	0.35936	N	0.002896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8979	0.88895	0.0:1.0:0.0:0.0	.	.	.	.	X	606	.	ENSP00000359603:G606X	G	-	1	0	COL24A1	86296237	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.523000	0.67099	2.653000	0.90120	0.655000	0.94253	GGA		PASS	0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		5	31	5	31	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477118	150477118	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:150477118G>T	ENST00000369064.3	+	15	1763	c.1729G>T	c.(1729-1731)Gcc>Tcc	p.A577S	TARS2_ENST00000369054.2_Missense_Mutation_p.A447S|TARS2_ENST00000606933.1_Missense_Mutation_p.A495S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	577					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.A577S(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCAGGCGGGTGCCCTGGAGCG	0.527																																						uc001euq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1729-1731)GCC>TCC		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						111.0	117.0	115.0					1																	150477118		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477118G>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1729G>T	1.37:g.150477118G>T	ENSP00000358060:p.Ala577Ser					TARS2_uc001eur.2_Missense_Mutation_p.A495S|TARS2_uc009wlt.2_Missense_Mutation_p.A203S|TARS2_uc009wls.2_Missense_Mutation_p.A447S	p.A577S	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	1736	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		577					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1729G>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358293	0.24598	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.19	3.22	0.36961	Aminoacyl-tRNA synthetase, class II (1);	0.571298	0.19106	N	0.122573	T	0.16599	0.0399	N	0.12831	0.26	0.80722	D	1	B;B;B	0.25441	0.075;0.126;0.126	B;B;B	0.24701	0.034;0.055;0.05	T	0.04693	-1.0933	9	0.41790	T	0.15	-12.8827	8.9703	0.35901	0.1927:0.0:0.8073:0.0	.	447;302;577	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	S	447;577;302;302	.	ENSP00000358047:A302S	A	+	1	0	TARS2	148743742	0.113000	0.22115	0.956000	0.39512	0.821000	0.46438	1.467000	0.35321	0.685000	0.31468	0.650000	0.86243	GCC		PASS	0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	102	5	102	---	---	---	---
LCE1F	353137	broad.mit.edu	37	1	152748937	152748937	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:152748937C>A	ENST00000334371.2	+	1	90	c.90C>A	c.(88-90)ccC>ccA	p.P30P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	30	Pro-rich.				keratinization (GO:0031424)			p.P30P(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgaagtgccccccaaagtgtc	0.667																																						uc010pdv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)CCC>CCA		late cornified envelope 1F							59.0	62.0	61.0					1																	152748937		2203	4300	6503	SO:0001819	synonymous_variant	353137				keratinization			g.chr1:152748937C>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.90C>A	1.37:g.152748937C>A							p.P30P	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	90	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			Pro-rich.			Silent	SNP	ENST00000334371.2	37	c.90C>A	CCDS1023.1																																																																																				PASS	0.667	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		17	40	17	40	---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153914391	153914391	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:153914391G>T	ENST00000361217.4	-	6	1427	c.1009C>A	c.(1009-1011)Ctt>Att	p.L337I		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	337	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L337I(1)|p.L225I(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGCGGTAAAGGAAGGTGAGG	0.667																																						uc001fdd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1009-1011)CTT>ATT		DENN/MADD domain containing 4B							42.0	51.0	48.0					1																	153914391		2176	4256	6432	SO:0001583	missense	9909							g.chr1:153914391G>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1009C>A	1.37:g.153914391G>T	ENSP00000354597:p.Leu337Ile						p.L337I	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1410	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		337			DENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1009C>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771558	0.49680	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12465	2.68;2.68	4.39	4.39	0.52855	DENN (3);	0.244803	0.31897	N	0.006888	T	0.03608	0.0103	N	0.21324	0.655	0.43942	D	0.996601	B	0.24132	0.098	B	0.26202	0.067	T	0.32824	-0.9892	10	0.15499	T	0.54	-17.6241	11.1611	0.48516	0.0:0.0:0.8156:0.1844	.	337	O75064	DEN4B_HUMAN	I	337;348	ENSP00000354597:L337I;ENSP00000357635:L348I	ENSP00000354597:L337I	L	-	1	0	DENND4B	152181015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.759000	0.26461	2.292000	0.77174	0.462000	0.41574	CTT		PASS	0.667	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	28	5	28	---	---	---	---
NES	10763	broad.mit.edu	37	1	156640754	156640754	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:156640754C>A	ENST00000368223.3	-	4	3358	c.3226G>T	c.(3226-3228)Gac>Tac	p.D1076Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1076	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.D1076Y(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGCTTGGTCACCCCCTGGG	0.692																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(3226-3228)GAC>TAC		nestin							23.0	26.0	25.0					1																	156640754		2197	4288	6485	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640754C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3226G>T	1.37:g.156640754C>A	ENSP00000357206:p.Asp1076Tyr						p.D1076Y	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3359	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1076			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3226G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663507	0.29515	.	.	ENSG00000132688	ENST00000368223	D	0.87966	-2.32	5.25	3.34	0.38264	.	0.437004	0.16898	N	0.195014	T	0.64972	0.2647	N	0.22421	0.69	0.09310	N	1	B	0.27732	0.187	B	0.30855	0.121	T	0.60161	-0.7317	10	0.72032	D	0.01	.	6.828	0.23895	0.0:0.6972:0.1458:0.157	.	1076	P48681	NEST_HUMAN	Y	1076	ENSP00000357206:D1076Y	ENSP00000357206:D1076Y	D	-	1	0	NES	154907378	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	0.325000	0.19628	1.194000	0.43101	0.563000	0.77884	GAC		PASS	0.692	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	17	5	17	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158298754	158298754	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:158298754A>T	ENST00000368168.3	-	5	1044	c.937T>A	c.(937-939)Ttg>Atg	p.L313M		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	313					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.L313M(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAAAGGAGCAAGGAAGGCACT	0.428																																						uc001frx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(937-939)TTG>ATG		CD1B antigen precursor							111.0	104.0	106.0					1																	158298754		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158298754A>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.937T>A	1.37:g.158298754A>T	ENSP00000357150:p.Leu313Met					CD1B_uc001frw.2_Missense_Mutation_p.L151M	p.L313M	NM_001764	NP_001755	P29016	CD1B_HUMAN			5	1045	-	all_hematologic(112;0.0378)		313			Helical; (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.937T>A	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.14|15.14	2.744225|2.744225	0.49151|0.49151	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.01854	.|4.6	3.49|3.49	1.07|1.07	0.20283|0.20283	.|.	0.222823|0.222823	0.22860|0.22860	N|N	0.054760|0.054760	T|T	0.03390|0.03390	0.0098|0.0098	M|M	0.87971|0.87971	2.92|2.92	0.09310|0.09310	N|N	1|1	.|D;D	.|0.56968	.|0.978;0.971	.|P;P	.|0.58391	.|0.838;0.823	T|T	0.24584|0.24584	-1.0156|-1.0156	6|10	.|0.66056	.|D	.|0.02	-5.4662|-5.4662	3.598|3.598	0.08013|0.08013	0.6469:0.2295:0.1236:0.0|0.6469:0.2295:0.1236:0.0	.|.	.|313;258	.|P29016;P29016-2	.|CD1B_HUMAN;.	H|M	225|313	.|ENSP00000357150:L313M	.|ENSP00000357150:L313M	L|L	-|-	2|1	0|2	CD1B|CD1B	156565378|156565378	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.171000|0.171000	0.22731|0.22731	0.091000|0.091000	0.15046|0.15046	0.209000|0.209000	0.20645|0.20645	0.533000|0.533000	0.62120|0.62120	CTT|TTG		PASS	0.428	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		13	61	13	61	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158812030	158812031	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:158812030_158812031GG>CA	ENST00000368141.4	+	2	348_349	c.87_88GG>CA	c.(85-90)ctGGcc>ctCAcc	p.A30T	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	30	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A30T(2)|p.L29L(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGTCCTTACTGGCCTATGATTT	0.332																																						uc001fsz.1																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(3)|prostate(1)	ovary(2)|skin(2)	4						c.(85-87)CTG>CTC|c.(88-90)GCC>ACC		myeloid cell nuclear differentiation antigen																																				SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158812030G>C|g.chr1:158812031G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	Exception_encountered	1.37:g.158812030_158812031delinsCA	ENSP00000357123:p.Ala30Thr						p.L29L|p.A30T	NM_002432	NP_002423	P41218	MNDA_HUMAN			2	287|288	+	all_hematologic(112;0.0378)		29|30			DAPIN.			Silent|Missense_Mutation	SNP	ENST00000368141.4	37	c.87G>C|c.88G>A	CCDS1177.1																																																																																				PASS	0.332	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		6	48	6	48	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159275872	159275872	+	Silent	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:159275872G>A	ENST00000368115.1	+	5	525	c.426G>A	c.(424-426)aaG>aaA	p.K142K	FCER1A_ENST00000368114.1_Silent_p.K109K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	142	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.K142K(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGTGTACAAGGTGATCTATT	0.502																																						uc001ftq.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	lung(2)|skin(2)|prostate(1)	5						c.(424-426)AAG>AAA		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						158.0	141.0	147.0					1																	159275872		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159275872G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.426G>A	1.37:g.159275872G>A							p.K142K	NM_002001	NP_001992	P12319	FCERA_HUMAN			5	525	+	all_hematologic(112;0.0429)		142			Ig-like 2.|Extracellular (Potential).			Silent	SNP	ENST00000368115.1	37	c.426G>A	CCDS1184.1																																																																																				PASS	0.502	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		13	54	13	54	---	---	---	---
GPR161	23432	broad.mit.edu	37	1	168056836	168056836	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:168056836C>A	ENST00000367838.1	-	7	1624	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V	GPR161_ENST00000539777.1_Silent_p.V359V|GPR161_ENST00000271357.5_Silent_p.V437V|GPR161_ENST00000367835.1_Silent_p.V437V|GPR161_ENST00000537209.1_Silent_p.V457V|GPR161_ENST00000546300.1_Silent_p.V323V|GPR161_ENST00000361697.2_Silent_p.V437V|GPR161_ENST00000367836.1_Silent_p.V305V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	437					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.V437V(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGATTTGTTCCACTTCATCCT	0.483																																						uc001gfc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)GTG>GTT		G protein-coupled receptor 161 isoform 2							199.0	190.0	193.0					1																	168056836		2203	4300	6503	SO:0001819	synonymous_variant	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168056836C>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1311G>T	1.37:g.168056836C>A						GPR161_uc001gfb.2_Silent_p.V305V|GPR161_uc010pll.1_Silent_p.V347V|GPR161_uc010plm.1_Silent_p.V323V|GPR161_uc009wvo.2_Silent_p.V454V|GPR161_uc001gfd.2_Silent_p.V437V|GPR161_uc010pln.1_Silent_p.V457V	p.V437V	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			7	1625	-	all_hematologic(923;0.215)		437			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	c.1311G>T	CCDS1268.1																																																																																				PASS	0.483	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		6	119	6	119	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183559390	183559390	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:183559390G>T	ENST00000367535.3	-	1	326	c.75C>A	c.(73-75)gcC>gcA	p.A25A	NCF2_ENST00000413720.1_Silent_p.A25A|NCF2_ENST00000418089.1_Silent_p.A25A|NCF2_ENST00000367536.1_Silent_p.A25A	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	25					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.A25A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	AGGCATCCAGGGCTCCCTTCC	0.552																																						uc001gqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(73-75)GCC>GCA		neutrophil cytosolic factor 2							112.0	109.0	110.0					1																	183559390		2203	4300	6503	SO:0001819	synonymous_variant	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183559390G>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.75C>A	1.37:g.183559390G>T						NCF2_uc010pod.1_Silent_p.A25A|NCF2_uc010poe.1_Silent_p.A25A|NCF2_uc001gqk.3_Silent_p.A25A	p.A25A	NM_000433	NP_000424	P19878	NCF2_HUMAN			1	350	-			25					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	ENST00000367535.3	37	c.75C>A	CCDS1356.1																																																																																				PASS	0.552	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		13	82	13	82	---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184695505	184695505	+	Missense_Mutation	SNP	T	T	C	rs142115161		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:184695505T>C	ENST00000318130.8	-	7	897	c.631A>G	c.(631-633)Atc>Gtc	p.I211V	EDEM3_ENST00000367512.3_Missense_Mutation_p.I168V	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	211					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I168V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTTTCTGATGCCAAACTTT	0.368																																						uc010pok.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(631-633)ATC>GTC		ER degradation enhancer, mannosidase alpha-like							72.0	74.0	73.0					1																	184695505		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184695505T>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.631A>G	1.37:g.184695505T>C	ENSP00000318147:p.Ile211Val					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.I211V|EDEM3_uc001gqy.2_Missense_Mutation_p.I134V	p.I211V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			7	892	-			211					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.631A>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	4.597	0.110896	0.08831	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.39997	1.05;1.05	4.58	3.44	0.39384	.	0.321610	0.33382	N	0.004976	T	0.13670	0.0331	N	0.03881	-0.34	0.34082	D	0.659662	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.28073	-1.0055	10	0.02654	T	1	.	4.3732	0.11258	0.0:0.2421:0.0:0.7579	.	211;168	Q9BZQ6;B7ZLZ2	EDEM3_HUMAN;.	V	211;168	ENSP00000318147:I211V;ENSP00000356482:I168V	ENSP00000318147:I211V	I	-	1	0	EDEM3	182962128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.825000	0.53177	0.533000	0.62120	ATC		PASS	0.368	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		11	39	11	39	---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197898339	197898339	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:197898339A>T	ENST00000367387.4	+	5	1569	c.1144A>T	c.(1144-1146)Agc>Tgc	p.S382C	LHX9_ENST00000367391.1_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367390.3_Missense_Mutation_p.S373C	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	382					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S382C(1)|p.S373C(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TAACATGGACAGCCACGAATC	0.428																																						uc001guk.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1144-1146)AGC>TGC		LIM homeobox 9 isoform 1							73.0	76.0	75.0					1																	197898339		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197898339A>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.1144A>T	1.37:g.197898339A>T	ENSP00000356357:p.Ser382Cys					LHX9_uc001gui.1_Missense_Mutation_p.S373C|LHX9_uc001guj.1_Intron	p.S382C	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			5	1581	+			382					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.1144A>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507434	0.64410	.	.	ENSG00000143355	ENST00000367390;ENST00000367387	D;D	0.88509	-2.39;-2.39	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	N	0.08118	0	0.52501	D	0.999953	P;P	0.50528	0.895;0.936	P;P	0.55999	0.619;0.789	D	0.87341	0.2331	10	0.37606	T	0.19	.	16.2055	0.82126	1.0:0.0:0.0:0.0	.	382;373	Q9NQ69;Q9NQ69-2	LHX9_HUMAN;.	C	373;382	ENSP00000356360:S373C;ENSP00000356357:S382C	ENSP00000356357:S382C	S	+	1	0	LHX9	196164962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	2.226000	0.72624	0.482000	0.46254	AGC		PASS	0.428	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		7	75	7	75	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198668711	198668711	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:198668711C>G	ENST00000367376.2	+	5	482	c.311C>G	c.(310-312)aCg>aGg	p.T104R	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T104R|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.T106R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	104					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T104R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAGTACAGACGCCTCACCTT	0.502											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gur.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(310-312)ACG>AGG		protein tyrosine phosphatase, receptor type, C							103.0	107.0	105.0					1																	198668711		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668711C>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.311C>G	1.37:g.198668711C>G	ENSP00000356346:p.Thr104Arg		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_uc001gus.1_Missense_Mutation_p.T104R|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.T40R|PTPRC_uc009wzf.1_Missense_Mutation_p.T40R|PTPRC_uc010ppg.1_Missense_Mutation_p.T40R|PTPRC_uc001guu.1_Missense_Mutation_p.T147R|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	p.T104R	NM_002838	NP_002829	P08575	PTPRC_HUMAN			5	491	+			104			Extracellular (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.311C>G		.	.	.	.	.	.	.	.	.	.	C	12.32	1.903018	0.33628	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.02552	4.25	5.33	-2.21	0.06973	.	1.742020	0.03073	N	0.157445	T	0.05227	0.0139	L	0.40543	1.245	0.09310	N	1	P;P;P;P;B;B	0.51351	0.91;0.929;0.944;0.854;0.242;0.242	P;P;B;B;B;B	0.49683	0.619;0.516;0.415;0.415;0.044;0.044	T	0.36962	-0.9726	10	0.62326	D	0.03	.	6.4634	0.21968	0.0:0.243:0.4753:0.2817	.	40;40;40;145;104;104	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	R	106;40;104;104;145;38;104;38;104	ENSP00000193532:T104R	ENSP00000271610:T145R	T	+	2	0	PTPRC	196935334	0.000000	0.05858	0.004000	0.12327	0.405000	0.30901	-0.552000	0.06020	-0.297000	0.08934	0.555000	0.69702	ACG		PASS	0.502	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				11	96	11	96	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204375323	204375323	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:204375323T>C	ENST00000367188.4	-	2	2418	c.2039A>G	c.(2038-2040)gAa>gGa	p.E680G	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	680					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E680G(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AATAGCATCTTCTGTTTCTTG	0.388																																						uc001hav.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2038-2040)GAA>GGA		protein phosphatase 1, regulatory subunit 15B							189.0	171.0	177.0					1																	204375323		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204375323T>C	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.2039A>G	1.37:g.204375323T>C	ENSP00000356156:p.Glu680Gly						p.E680G	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		2	2444	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		680					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.2039A>G	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026107	0.75390	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.30981	1.51	5.55	4.42	0.53409	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.052227	0.85682	N	0.000000	T	0.54447	0.1859	M	0.78223	2.4	0.48632	D	0.99968	D	0.89917	1.0	D	0.83275	0.996	T	0.56703	-0.7935	10	0.62326	D	0.03	-12.4328	11.1064	0.48205	0.0:0.0733:0.0:0.9266	.	680	Q5SWA1	PR15B_HUMAN	G	680;590	ENSP00000356156:E680G	ENSP00000356156:E680G	E	-	2	0	PPP1R15B	202641946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.192000	0.65115	0.941000	0.37499	-0.256000	0.11100	GAA		PASS	0.388	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		6	58	6	58	---	---	---	---
ACBD3	64746	broad.mit.edu	37	1	226334402	226334402	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:226334402G>T	ENST00000366812.5	-	8	1550	c.1496C>A	c.(1495-1497)cCa>cAa	p.P499Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	499	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.P499Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TCCTCTCCCTGGATATTGATG	0.443																																						uc001hpy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1495-1497)CCA>CAA		acyl-Coenzyme A binding domain containing 3							142.0	128.0	133.0					1																	226334402		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226334402G>T	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1496C>A	1.37:g.226334402G>T	ENSP00000355777:p.Pro499Gln						p.P499Q	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	8	1543	-	Breast(184;0.158)		499			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1496C>A	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469993	0.84533	.	.	ENSG00000182827	ENST00000366812	T	0.42900	0.96	5.74	5.74	0.90152	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.69453	-0.5141	10	0.87932	D	0	-12.8425	19.9144	0.97043	0.0:0.0:1.0:0.0	.	499	Q9H3P7	GCP60_HUMAN	Q	499	ENSP00000355777:P499Q	ENSP00000355777:P499Q	P	-	2	0	ACBD3	224401025	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.397000	0.97276	2.716000	0.92895	0.491000	0.48974	CCA		PASS	0.443	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		5	97	5	97	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237755079	237755079	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:237755079C>T	ENST00000366574.2	+	32	4518	c.4201C>T	c.(4201-4203)Cat>Tat	p.H1401Y	RYR2_ENST00000542537.1_Missense_Mutation_p.H1385Y|RYR2_ENST00000360064.6_Missense_Mutation_p.H1399Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1401	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H1399Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCACAAGCCATTCTGCAAG	0.388																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4201-4203)CAT>TAT		cardiac muscle ryanodine receptor							122.0	120.0	121.0					1																	237755079		1896	4129	6025	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237755079C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4201C>T	1.37:g.237755079C>T	ENSP00000355533:p.His1401Tyr						p.H1401Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		32	4321	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1401			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4201C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	6.074	0.381946	0.11524	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96491	-4.03;-4.0;-4.03	5.52	5.52	0.82312	B30.2/SPRY domain (1);	0.243626	0.28566	N	0.014896	D	0.91723	0.7383	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	D	0.86296	0.1677	10	0.56958	D	0.05	.	19.6435	0.95767	0.0:1.0:0.0:0.0	.	1401	Q92736	RYR2_HUMAN	Y	1401;1399;1385	ENSP00000355533:H1401Y;ENSP00000353174:H1399Y;ENSP00000443798:H1385Y	ENSP00000353174:H1399Y	H	+	1	0	RYR2	235821702	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	2.583000	0.46094	2.866000	0.98385	0.650000	0.86243	CAT		PASS	0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	30	6	30	---	---	---	---
MAP1LC3C	440738	broad.mit.edu	37	1	242161882	242161882	+	Missense_Mutation	SNP	G	G	A	rs564171287|rs576105560	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:242161882G>A	ENST00000357246.3	-	3	219	c.155C>T	c.(154-156)cCg>cTg	p.P52L		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	52					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.P52L(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTTGTCCAGCGGGGGCAGGAA	0.582											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(154-156)CCG>CTG		microtubule-associated protein 1 light chain 3							73.0	75.0	74.0					1																	242161882		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242161882G>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.155C>T	1.37:g.242161882G>A	ENSP00000349785:p.Pro52Leu		OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2432		p.P52L	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		3	230	-			52					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.155C>T	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	A	7.470	0.646444	0.14451	.	.	ENSG00000197769	ENST00000357246	T	0.39787	1.06	4.0	-7.99	0.01131	.	0.622921	0.16469	N	0.213043	T	0.11153	0.0272	N	0.03294	-0.36	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17319	-1.0373	10	0.11182	T	0.66	.	3.5695	0.07912	0.3577:0.1801:0.3734:0.0888	.	52	Q9BXW4	MLP3C_HUMAN	L	52	ENSP00000349785:P52L	ENSP00000349785:P52L	P	-	2	0	MAP1LC3C	240228505	0.000000	0.05858	0.023000	0.16930	0.986000	0.74619	0.066000	0.14489	-2.720000	0.00389	-1.170000	0.01741	CCG		PASS	0.582	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		5	42	5	42	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655381	247655381	+	RNA	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:247655381G>T	ENST00000522351.1	+	0	1012							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G318*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTCAACGAGGGGAACACTCTA	0.498																																						uc001icz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(952-954)GGA>TGA		olfactory receptor, family 2, subfamily W,							48.0	52.0	50.0					1																	247655381		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655381G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655381G>T							p.G318*	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	952	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	318					B9EH85	Nonsense_Mutation	SNP	ENST00000522351.1	37	c.952G>T																																																																																					PASS	0.498	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		9	36	9	36	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875729	247875729	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:247875729G>C	ENST00000302084.2	-	1	376	c.329C>G	c.(328-330)aCa>aGa	p.T110R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T110R(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAAGTACTCTGTGCAGCCTAA	0.502																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)ACA>AGA		olfactory receptor, family 6, subfamily F,							96.0	93.0	94.0					1																	247875729		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875729G>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.329C>G	1.37:g.247875729G>C	ENSP00000305640:p.Thr110Arg						p.T110R	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	329	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		110			Helical; Name=3; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.329C>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008155	0.35415	.	.	ENSG00000169214	ENST00000302084	D	0.81659	-1.52	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000392	D	0.92322	0.7564	H	0.95780	3.72	0.19945	N	0.999948	D	0.76494	0.999	D	0.83275	0.996	D	0.86078	0.1542	10	0.87932	D	0	-30.3823	15.174	0.72896	0.0:0.0:1.0:0.0	.	110	Q8NGZ6	OR6F1_HUMAN	R	110	ENSP00000305640:T110R	ENSP00000305640:T110R	T	-	2	0	OR6F1	245942352	0.001000	0.12720	0.997000	0.53966	0.272000	0.26649	0.715000	0.25822	2.209000	0.71365	0.591000	0.81541	ACA		PASS	0.502	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		4	60	4	60	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436338	248436338	+	Missense_Mutation	SNP	G	G	C	rs147622928	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:248436338G>C	ENST00000318021.2	-	1	800	c.779C>G	c.(778-780)cCc>cGc	p.P260R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P260R(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			ATGGGATTTGGGTCTCATATA	0.478																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(778-780)CCC>CGC		olfactory receptor, family 2, subfamily T,							114.0	128.0	123.0					1																	248436338		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436338G>C		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.779C>G	1.37:g.248436338G>C	ENSP00000324687:p.Pro260Arg						p.P260R	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	779	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		260			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.779C>G	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	9.640	1.138742	0.21123	.	.	ENSG00000177212	ENST00000318021	T	0.00272	8.36	1.77	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33075	U	0.005309	T	0.00784	0.0026	H	0.94462	3.54	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.23404	-1.0189	10	0.87932	D	0	.	7.7925	0.29129	0.1458:0.0:0.8542:0.0	.	260	Q8NG76	O2T33_HUMAN	R	260	ENSP00000324687:P260R	ENSP00000324687:P260R	P	-	2	0	OR2T33	246502961	0.014000	0.17966	0.994000	0.49952	0.663000	0.39108	0.970000	0.29383	1.286000	0.44565	0.418000	0.28097	CCC		PASS	0.478	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		14	77	14	77	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248569858	248569858	+	Missense_Mutation	SNP	G	G	T	rs141385938		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:248569858G>T	ENST00000366474.1	+	1	563	c.563G>T	c.(562-564)cGc>cTc	p.R188L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R188L(1)|p.R188H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGAGCCGCCGGGTCTGT	0.542																																						uc010pzm.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	pancreas(1)	1						c.(562-564)CGC>CTC		olfactory receptor, family 2, subfamily T,							100.0	100.0	100.0					1																	248569858		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569858G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.563G>T	1.37:g.248569858G>T	ENSP00000355430:p.Arg188Leu						p.R188L	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	563	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		188			Cytoplasmic (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.563G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	14.38	2.519380	0.44866	.	.	ENSG00000175143	ENST00000366474	T	0.01369	4.97	4.84	0.913	0.19354	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	U	0.002435	T	0.01156	0.0038	L	0.29908	0.895	0.09310	N	1	P	0.46784	0.884	B	0.43052	0.406	T	0.49986	-0.8880	10	0.33940	T	0.23	.	1.1863	0.01856	0.3363:0.1408:0.3785:0.1443	.	188	O43869	OR2T1_HUMAN	L	188	ENSP00000355430:R188L	ENSP00000355430:R188L	R	+	2	0	OR2T1	246636481	0.000000	0.05858	0.089000	0.20774	0.998000	0.95712	-0.623000	0.05546	0.015000	0.14971	0.650000	0.86243	CGC		PASS	0.542	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			11	51	11	51	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26699098	26699098	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:26699098G>T	ENST00000272371.2	-	23	2890	c.2764C>A	c.(2764-2766)Cgc>Agc	p.R922S	OTOF_ENST00000339598.3_Missense_Mutation_p.R175S|OTOF_ENST00000403946.3_Missense_Mutation_p.R922S|OTOF_ENST00000338581.6_Missense_Mutation_p.R175S|OTOF_ENST00000402415.3_Missense_Mutation_p.R232S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	922					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R175S(1)|p.R232S(1)|p.R922S(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTCCTTGCGCTGTTTGCTG	0.677																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(2764-2766)CGC>AGC		otoferlin isoform a							46.0	43.0	44.0					2																	26699098		2200	4298	6498	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26699098G>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2764C>A	2.37:g.26699098G>T	ENSP00000272371:p.Arg922Ser					OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.R175S|OTOF_uc002rhi.2_Missense_Mutation_p.R232S|OTOF_uc002rhj.2_Missense_Mutation_p.R175S	p.R922S	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			23	2891	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		922			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2764C>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382254	0.42207	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79454	-1.02;-1.02;-1.01;-1.27;-1.27	5.41	3.55	0.40652	.	0.047676	0.85682	D	0.000000	T	0.73544	0.3600	L	0.39020	1.185	0.46678	D	0.99915	P;B;D;B	0.57571	0.928;0.031;0.98;0.009	B;B;P;B	0.50378	0.333;0.019;0.639;0.019	T	0.67692	-0.5605	10	0.20046	T	0.44	-23.9678	13.4241	0.61015	0.0:0.0:0.7205:0.2795	.	922;175;232;175	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	175;175;232;922;922	ENSP00000345137:R175S;ENSP00000344521:R175S;ENSP00000383906:R232S;ENSP00000272371:R922S;ENSP00000385255:R922S	ENSP00000272371:R922S	R	-	1	0	OTOF	26552602	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.163000	0.42377	0.609000	0.30018	0.561000	0.74099	CGC		PASS	0.677	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			3	26	3	26	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32726824	32726824	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:32726824G>T	ENST00000421745.2	+	47	9210	c.9076G>T	c.(9076-9078)Ggg>Tgg	p.G3026W		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3026					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.G3026W(1)|p.G2998W(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTTCATGGTGGGTTGGATGC	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(9076-9078)GGG>TGG		baculoviral IAP repeat-containing 6							118.0	115.0	116.0					2																	32726824		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32726824G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9076G>T	2.37:g.32726824G>T	ENSP00000393596:p.Gly3026Trp						p.G3026W	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			47	9210	+	Acute lymphoblastic leukemia(172;0.155)		3026					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9076G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615049	0.87359	.	.	ENSG00000115760	ENST00000421745	T	0.75821	-0.97	5.78	4.9	0.64082	.	0.110587	0.64402	D	0.000008	T	0.79488	0.4454	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.60236	0.871	T	0.81393	-0.0953	10	0.66056	D	0.02	.	14.704	0.69174	0.0696:0.0:0.9304:0.0	.	3026	Q9NR09	BIRC6_HUMAN	W	3026	ENSP00000393596:G3026W	ENSP00000393596:G3026W	G	+	1	0	BIRC6	32580328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.438000	0.47492	0.563000	0.77884	GGG		PASS	0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		18	48	18	48	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43732780	43732780	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:43732780A>T	ENST00000405006.4	-	24	3953	c.3602T>A	c.(3601-3603)aTa>aAa	p.I1201K	THADA_ENST00000415080.2_Missense_Mutation_p.I911K|THADA_ENST00000330266.7_Missense_Mutation_p.I911K|THADA_ENST00000405975.2_Missense_Mutation_p.I1201K	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1201								p.I1201K(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGTACTCTGTATGTCATCTGT	0.398																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3601-3603)ATA>AAA		thyroid adenoma associated							95.0	95.0	95.0					2																	43732780		1859	4094	5953	SO:0001583	missense	63892						binding	g.chr2:43732780A>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3602T>A	2.37:g.43732780A>T	ENSP00000385995:p.Ile1201Lys					THADA_uc010far.2_Missense_Mutation_p.I470K|THADA_uc002rsx.3_Missense_Mutation_p.I1201K|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.I910K|THADA_uc010fat.1_Missense_Mutation_p.I348K|THADA_uc002rta.2_Missense_Mutation_p.I911K	p.I1201K	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			24	3954	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1201					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3602T>A	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.229|1.229	-0.624557|-0.624557	0.03636|0.03636	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08|.	5.54|5.54	3.49|3.49	0.39957|0.39957	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.617200|.	0.15953|.	N|.	0.236653|.	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.09022|.	0.001;0.0;0.002;0.001|.	B;B;B;B|.	0.15052|.	0.007;0.0;0.012;0.01|.	T|T	0.18745|0.18745	-1.0327|-1.0327	10|5	0.06365|.	T|.	0.9|.	.|.	9.1071|9.1071	0.36705|0.36705	0.2106:0.0:0.7894:0.0|0.2106:0.0:0.7894:0.0	.|.	911;1202;911;1201|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	K|N	911;1201;1202;911;1201|515	ENSP00000331105:I911K;ENSP00000386088:I1201K;ENSP00000416048:I911K;ENSP00000385995:I1201K|.	ENSP00000331105:I911K|.	I|Y	-|-	2|1	0|0	THADA|THADA	43586284|43586284	0.068000|0.068000	0.21057|0.21057	0.537000|0.537000	0.28052|0.28052	0.722000|0.722000	0.41435|0.41435	2.579000|2.579000	0.46059|0.46059	0.682000|0.682000	0.31407|0.31407	-0.248000|-0.248000	0.11899|0.11899	ATA|TAC		PASS	0.398	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		3	9	3	9	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80620402	80620402	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:80620402G>T	ENST00000402739.4	+	7	1128	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	CTNNA2_ENST00000343114.3_Missense_Mutation_p.D54Y|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D375Y|CTNNA2_ENST00000541047.1_Missense_Mutation_p.D375Y|CTNNA2_ENST00000466387.1_Missense_Mutation_p.D375Y|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D375Y|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D409Y	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	375					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.D375Y(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAACAAGAGATCTAAGGAG	0.333																																						uc010ysh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1123-1125)GAT>TAT		catenin, alpha 2 isoform 1							92.0	87.0	88.0					2																	80620402		1818	4082	5900	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620402G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1123G>T	2.37:g.80620402G>T	ENSP00000384638:p.Asp375Tyr					CTNNA2_uc010yse.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D7Y	p.D375Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN			7	1128	+			375					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1123G>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.940986	0.73557	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.80764	0.967;0.994;0.979;0.991	T	0.81678	-0.0824	9	.	.	.	.	19.8137	0.96557	0.0:0.0:1.0:0.0	.	7;375;375;375	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Y	375;375;409;375;375;375;54;40	ENSP00000418191:D375Y;ENSP00000419295:D375Y;ENSP00000355398:D409Y;ENSP00000384638:D375Y;ENSP00000444675:D375Y;ENSP00000441705:D375Y;ENSP00000341500:D54Y;ENSP00000386587:D40Y	.	D	+	1	0	CTNNA2	80473913	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.232000	0.72313	2.780000	0.95670	0.655000	0.94253	GAT		PASS	0.333	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		7	79	7	79	---	---	---	---
IGKV1D-17	28900	broad.mit.edu	37	2	90121879	90121879	+	RNA	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:90121879A>T	ENST00000483379.1	+	0	278									immunoglobulin kappa variable 1D-17																		TCCATCTGCCATGTCTGCATC	0.448																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							220.0	177.0	191.0					2																	90121879		1974	4155	6129			0							g.chr2:90121879A>T	X63392		2p11.2	2012-02-08			ENSG00000242766	ENSG00000242766		"""Immunoglobulins / IGK locus"""	5749	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151610		2.37:g.90121879A>T														16		+									RNA	SNP	ENST00000483379.1	37	c.1748A>T																																																																																					PASS	0.448	IGKV1D-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323282.1	NG_000833		13	263	13	263	---	---	---	---
MFSD9	84804	broad.mit.edu	37	2	103343376	103343376	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:103343376T>C	ENST00000258436.5	-	4	398	c.355A>G	c.(355-357)Agt>Ggt	p.S119G		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	119					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S119G(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCCAGAGCACTGAGTAGAATG	0.483																																						uc002tcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(355-357)AGT>GGT		major facilitator superfamily domain containing							89.0	84.0	86.0					2																	103343376		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103343376T>C		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.355A>G	2.37:g.103343376T>C	ENSP00000258436:p.Ser119Gly					MFSD9_uc010fja.2_RNA	p.S119G	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			4	423	-			119			Helical; (Potential).		Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.355A>G	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669741	0.67814	.	.	ENSG00000135953	ENST00000258436	T	0.58210	0.35	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	L	0.61036	1.89	0.58432	D	0.999999	D	0.76494	0.999	D	0.74023	0.982	T	0.64997	-0.6275	10	0.26408	T	0.33	-21.3951	15.5987	0.76609	0.0:0.0:0.0:1.0	.	119	Q8NBP5	MFSD9_HUMAN	G	119	ENSP00000258436:S119G	ENSP00000258436:S119G	S	-	1	0	MFSD9	102709808	1.000000	0.71417	0.974000	0.42286	0.168000	0.22595	7.505000	0.81655	2.150000	0.67090	0.533000	0.62120	AGT		PASS	0.483	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		7	85	7	85	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107459731	107459731	+	Missense_Mutation	SNP	C	C	A	rs376167669		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:107459731C>A	ENST00000409382.3	-	2	1313	c.703G>T	c.(703-705)Ggg>Tgg	p.G235W	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G235W|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G235W	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	235					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.G235W(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AAGCGCACCCCGTGCTTGTTG	0.677																																						uc002tdq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(703-705)GGG>TGG		ST6 beta-galactosamide							20.0	21.0	21.0					2																	107459731		2201	4299	6500	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459731C>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.703G>T	2.37:g.107459731C>A	ENSP00000386942:p.Gly235Trp					ST6GAL2_uc002tdr.2_Missense_Mutation_p.G235W|ST6GAL2_uc002tds.3_Missense_Mutation_p.G235W	p.G235W	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	822	-			235			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.703G>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830538	0.71258	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.35048	2.36;2.36;1.33	5.14	4.06	0.47325	.	0.238631	0.42420	D	0.000702	T	0.59582	0.2204	M	0.77103	2.36	0.51233	D	0.999917	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.968	T	0.65249	-0.6214	10	0.87932	D	0	-29.7065	13.6273	0.62173	0.0:0.9104:0.0:0.0896	.	235;235	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	W	235	ENSP00000355273:G235W;ENSP00000386942:G235W;ENSP00000387332:G235W	ENSP00000355273:G235W	G	-	1	0	ST6GAL2	106826163	0.997000	0.39634	0.995000	0.50966	0.961000	0.63080	2.949000	0.49074	2.403000	0.81681	0.561000	0.74099	GGG		PASS	0.677	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		5	6	5	6	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136432940	136432940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:136432940G>T	ENST00000264160.4	+	19	2456	c.2086G>T	c.(2086-2088)Gga>Tga	p.G696*	R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.G567*|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.G568*|R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.G697*|R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.G641*	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	696							poly(A) RNA binding (GO:0044822)	p.G696*(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AAACTACCAAGGAATAGTTGG	0.413																																						uc002tuo.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2086-2088)GGA>TGA		R3H domain containing 1							135.0	122.0	127.0					2																	136432940		2203	4300	6503	SO:0001587	stop_gained	23518						nucleic acid binding	g.chr2:136432940G>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2086G>T	2.37:g.136432940G>T	ENSP00000264160:p.Gly696*					R3HDM1_uc010fni.2_Nonsense_Mutation_p.G695*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.G641*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.G444*	p.G696*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	19	2456	+			696					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Nonsense_Mutation	SNP	ENST00000264160.4	37	c.2086G>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.519736|7.519736	0.98335|0.98335	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.272856|.	0.41605|.	D|.	0.000852|.	.|T	.|0.76097	.|0.3940	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74665	.|-0.3589	.|3	0.66056|.	D|.	0.02|.	-3.2223|-3.2223	19.3004|19.3004	0.94141|0.94141	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	568;696;567;641;697|419	.|.	ENSP00000264160:G696X|.	G|R	+|+	1|2	0|0	R3HDM1|R3HDM1	136149410|136149410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.976000|4.976000	0.63785|0.63785	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGA|AGG		PASS	0.413	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		5	68	5	68	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136537802	136537802	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:136537802G>T	ENST00000272638.9	+	12	1546	c.1235G>T	c.(1234-1236)tGg>tTg	p.W412L	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	412					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.W412L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGAGACATTTGGACCTTGTTG	0.413																																						uc002tur.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1234-1236)TGG>TTG		UBX domain containing 2							184.0	168.0	173.0					2																	136537802		1916	4130	6046	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136537802G>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1235G>T	2.37:g.136537802G>T	ENSP00000272638:p.Trp412Leu					UBXN4_uc002tus.2_Missense_Mutation_p.W178L|UBXN4_uc002tut.2_Missense_Mutation_p.W48L	p.W412L	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			12	1546	+			412			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.1235G>T	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982490	0.93044	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.44482	0.92	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.78916	2.43	0.80722	D	1	P	0.52463	0.953	P	0.57152	0.814	T	0.56673	-0.7940	10	0.07644	T	0.81	.	18.0192	0.89250	0.0:0.0:1.0:0.0	.	412	Q92575	UBXN4_HUMAN	L	412;394	ENSP00000272638:W412L	ENSP00000272638:W412L	W	+	2	0	UBXN4	136254272	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.947000	0.93000	2.498000	0.84270	0.484000	0.47621	TGG		PASS	0.413	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		5	64	5	64	---	---	---	---
IFIH1	64135	broad.mit.edu	37	2	163174569	163174569	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:163174569G>T	ENST00000263642.2	-	1	644	c.249C>A	c.(247-249)ctC>ctA	p.L83L	GCA_ENST00000429691.2_5'Flank|IFIH1_ENST00000421365.2_Silent_p.L83L	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	83	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.L83L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CGGTTCTCCGGAGGGCCTCCA	0.592																																						uc002uce.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(247-249)CTC>CTA		interferon induced with helicase C domain 1							67.0	71.0	70.0					2																	163174569		2203	4300	6503	SO:0001819	synonymous_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163174569G>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.249C>A	2.37:g.163174569G>T						IFIH1_uc002ucf.2_Silent_p.L83L	p.L83L	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			1	471	-			83			CARD 1.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	c.249C>A	CCDS2217.1																																																																																				PASS	0.592	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		5	50	5	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179583529	179583529	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:179583529G>T	ENST00000591111.1	-	82	23671	c.23447C>A	c.(23446-23448)aCa>aAa	p.T7816K	TTN_ENST00000589042.1_Missense_Mutation_p.T8133K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6889K|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13355	Ig-like 60.				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.T6889K(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)			CTCCAGTTCTGTGACAAAATC	0.478																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(20665-20667)ACA>AAA		titin isoform N2-A							76.0	76.0	76.0					2																	179583529		1989	4168	6157	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583529G>T	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.23447C>A	2.37:g.179583529G>T	ENSP00000465570:p.Thr7816Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3550K	p.T6889K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		81	20890	-			7816					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.20666C>A		.	.	.	.	.	.	.	.	.	.	G	12.71	2.018554	0.35606	.	.	ENSG00000155657	ENST00000342992	T	0.43688	0.94	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43545	0.1252	L	0.47716	1.5	0.80722	D	1	B	0.31459	0.324	B	0.31390	0.129	T	0.35748	-0.9776	9	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	7816	Q8WZ42	TITIN_HUMAN	K	6889	ENSP00000343764:T6889K	ENSP00000343764:T6889K	T	-	2	0	TTN	179291774	0.998000	0.40836	0.865000	0.33974	0.976000	0.68499	5.479000	0.66813	2.861000	0.98227	0.650000	0.86243	ACA		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	72	9	72	---	---	---	---
TRAK2	66008	broad.mit.edu	37	2	202245669	202245669	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:202245669G>T	ENST00000332624.3	-	16	2770	c.2342C>A	c.(2341-2343)cCa>cAa	p.P781Q		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	781					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.P781Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TGAGTGAGATGGTGAATTTGG	0.522																																						uc002uyb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2341-2343)CCA>CAA		trafficking protein, kinesin binding 2							150.0	142.0	145.0					2																	202245669		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202245669G>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2342C>A	2.37:g.202245669G>T	ENSP00000328875:p.Pro781Gln						p.P781Q	NM_015049	NP_055864	O60296	TRAK2_HUMAN			16	2788	-			781	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.2342C>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048593	0.93740	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.52754	0.65	6.03	6.03	0.97812	Trafficking kinesin-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69628	-0.5094	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	781	O60296	TRAK2_HUMAN	Q	781;687	ENSP00000328875:P781Q	ENSP00000328875:P781Q	P	-	2	0	TRAK2	201953914	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	9.559000	0.98135	2.861000	0.98227	0.655000	0.94253	CCA		PASS	0.522	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		6	94	6	94	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202590178	202590178	+	Splice_Site	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:202590178C>A	ENST00000264276.6	-	20	3621		c.e20-1		ALS2_ENST00000457679.2_Splice_Site	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)						behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCTCCATACCTGCCATGAAA	0.363																																						uc002uyo.2																			1	Unknown(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.e20-1		alsin isoform 1							182.0	179.0	180.0					2																	202590178		1849	4088	5937	SO:0001630	splice_region_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202590178C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3249-1G>T	2.37:g.202590178C>A						ALS2_uc002uyp.3_Splice_Site_p.G1083_splice|ALS2_uc010ftl.2_Splice_Site	p.G1083_splice	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			20	3605	-								Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Splice_Site	SNP	ENST00000264276.6	37	c.3249_splice	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742530	0.69418	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3377	0.94326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALS2	202298423	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.536000	0.82023	2.547000	0.85894	0.563000	0.77884	.		PASS	0.363	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	Intron	5	83	5	83	---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207527889	207527889	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:207527889C>T	ENST00000452335.2	-	11	1487	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	457						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E457E(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)		GCAAAGTGGTCTCTGGTGATT	0.488																																						uc002vbr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1369-1371)GAG>GAA		dystrotelin							181.0	173.0	176.0					2																	207527889		2041	4197	6238	SO:0001819	synonymous_variant	391475					plasma membrane	zinc ion binding	g.chr2:207527889C>T	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.1371G>A	2.37:g.207527889C>T							p.E457E	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1488	-			457						Silent	SNP	ENST00000452335.2	37	c.1371G>A	CCDS46502.1																																																																																				PASS	0.488	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			5	57	5	57	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	211018789	211018789	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:211018789C>A	ENST00000281772.9	-	2	781	c.518G>T	c.(517-519)tGg>tTg	p.W173L	KANSL1L_ENST00000418791.1_Missense_Mutation_p.W173L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.W173L|KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000452086.1_Missense_Mutation_p.W173L	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	173						histone acetyltransferase complex (GO:0000123)		p.W173L(1)									CTCTTGATACCATTTACAGTT	0.338																																						uc002vds.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(517-519)TGG>TTG		hypothetical protein LOC151050							127.0	120.0	122.0					2																	211018789		2203	4300	6503	SO:0001583	missense	151050							g.chr2:211018789C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.518G>T	2.37:g.211018789C>A	ENSP00000281772:p.Trp173Leu					C2orf67_uc002vdt.2_Missense_Mutation_p.W173L|C2orf67_uc002vdw.2_Missense_Mutation_p.W173L|C2orf67_uc002vdy.1_Missense_Mutation_p.W173L|C2orf67_uc002vdv.2_Missense_Mutation_p.W173L|C2orf67_uc002vdx.1_Missense_Mutation_p.W173L	p.W173L	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	2	726	-		Renal(323;0.202)	173					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.518G>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548957	0.27652	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.91	5.04	0.67666	.	0.092295	0.48286	D	0.000200	T	0.25717	0.0626	L	0.29908	0.895	0.28279	N	0.924047	B;B;P;P	0.46142	0.012;0.052;0.873;0.873	B;B;B;B	0.42361	0.015;0.022;0.385;0.385	T	0.08086	-1.0739	9	0.19590	T	0.45	.	9.0583	0.36419	0.1462:0.7804:0.0:0.0735	.	173;173;173;173	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	L	173	.	ENSP00000281772:W173L	W	-	2	0	C2orf67	210727034	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.040000	0.41203	1.528000	0.49103	0.558000	0.71614	TGG		PASS	0.338	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		6	64	6	64	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234669706	234669706	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:234669706G>C	ENST00000608383.1	+	1	773	c.773G>C	c.(772-774)aGt>aCt	p.S258T	UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S258T|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S258T|UGT1A6_ENST00000406651.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	258					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.S258T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CTGTTTAGAAGTGACTTTGTG	0.468																																						uc002vvb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(772-774)AGT>ACT		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						178.0	175.0	176.0					2																	234669706		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669706G>C	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.773G>C	2.37:g.234669706G>C	ENSP00000476741:p.Ser258Thr					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S258T	p.S258T	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	788	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	258					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.773G>C	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	G	1.597	-0.527606	0.04141	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.61040	0.14;0.14	5.55	-7.87	0.01183	.	.	.	.	.	T	0.23532	0.0569	N	0.03881	-0.34	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.002	T	0.42666	-0.9438	9	0.02654	T	1	.	10.2548	0.43390	0.5292:0.3296:0.1412:0.0	.	258;258	A6NJC3;P22309	.;UD11_HUMAN	T	258	ENSP00000304845:S258T;ENSP00000353593:S258T	ENSP00000304845:S258T	S	+	2	0	UGT1A1	234334445	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-2.136000	0.01305	-1.358000	0.02177	-1.058000	0.02302	AGT		PASS	0.468	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				4	68	4	68	---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238419719	238419719	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr2:238419719C>A	ENST00000264605.3	+	4	714	c.420C>A	c.(418-420)tcC>tcA	p.S140S	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Silent_p.S140S|MLPH_ENST00000409373.1_Silent_p.S140S|MLPH_ENST00000445024.2_Silent_p.S140S|MLPH_ENST00000338530.4_Silent_p.S140S	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	140					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.S140S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TCATCCGGTCCCTCCACGGGC	0.532																																						uc002vwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(418-420)TCC>TCA		melanophilin isoform 1							149.0	152.0	151.0					2																	238419719		2203	4300	6503	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238419719C>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.420C>A	2.37:g.238419719C>A						MLPH_uc002vws.2_Silent_p.S140S|MLPH_uc010fyt.1_Silent_p.S140S|MLPH_uc002vwu.2_Silent_p.S140S|MLPH_uc002vwv.2_Silent_p.S140S|MLPH_uc002vww.2_Silent_p.S116S	p.S140S	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	4	647	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	140					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.420C>A	CCDS2518.1																																																																																				PASS	0.532	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		7	177	7	177	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2787299	2787299	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:2787299C>A	ENST00000397461.1	+	5	660	c.276C>A	c.(274-276)acC>acA	p.T92T	CNTN4_ENST00000418658.1_Silent_p.T92T|CNTN4_ENST00000427331.1_Silent_p.T92T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	92	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.T92T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATAAAACCCAAGATGCTG	0.413																																						uc003bpc.2																			1	Substitution - coding silent(1)	p.K92N(1)	lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(274-276)ACC>ACA		contactin 4 isoform a precursor							171.0	159.0	163.0					3																	2787299		1904	4125	6029	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2787299C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.276C>A	3.37:g.2787299C>A						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.T92T	p.T92T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	497	+		Ovarian(110;0.156)	92			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.276C>A	CCDS43041.1																																																																																				PASS	0.413	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			5	68	5	68	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100964871	100964871	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:100964871C>G	ENST00000193391.7	-	12	1505	c.1318G>C	c.(1318-1320)Ggt>Cgt	p.G440R		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	440					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.G440R(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GAGGGAGGACCAGAGCTGAAA	0.493																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1318-1320)GGT>CGT		interphotoreceptor matrix proteoglycan 2							93.0	104.0	100.0					3																	100964871		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100964871C>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1318G>C	3.37:g.100964871C>G	ENSP00000193391:p.Gly440Arg					IMPG2_uc011bhe.1_Missense_Mutation_p.G303R	p.G440R	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			12	1521	-			440			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1318G>C	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851424	0.71719	.	.	ENSG00000081148	ENST00000193391	T	0.24538	1.85	6.03	3.16	0.36331	.	0.656142	0.15191	N	0.275567	T	0.27866	0.0686	L	0.27053	0.805	0.24052	N	0.996044	D;D	0.59767	0.986;0.986	P;P	0.56343	0.796;0.741	T	0.07065	-1.0792	10	0.56958	D	0.05	-1.1202	7.0057	0.24836	0.1301:0.6775:0.1253:0.0671	.	440;440	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	R	440	ENSP00000193391:G440R	ENSP00000193391:G440R	G	-	1	0	IMPG2	102447561	0.999000	0.42202	0.983000	0.44433	0.998000	0.95712	1.627000	0.37050	0.375000	0.24679	0.655000	0.94253	GGT		PASS	0.493	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			8	43	8	43	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108394691	108394691	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:108394691G>A	ENST00000361582.3	+	25	2982	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	DZIP3_ENST00000463306.1_Missense_Mutation_p.D918N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	918					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D918N(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATTGTGGCAGATGTTAGAAA	0.363																																						uc003dxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2752-2754)GAT>AAT		DAZ interacting protein 3, zinc finger							92.0	84.0	87.0					3																	108394691		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108394691G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2752G>A	3.37:g.108394691G>A	ENSP00000355028:p.Asp918Asn					DZIP3_uc003dxf.1_Missense_Mutation_p.D918N|DZIP3_uc011bhm.1_Missense_Mutation_p.D369N	p.D918N	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			25	3174	+			918			Potential.		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2752G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062476	0.76187	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.18657	2.2;2.2	4.93	4.93	0.64822	.	0.000000	0.52532	D	0.000075	T	0.36248	0.0960	L	0.47716	1.5	0.35566	D	0.805067	D;D	0.76494	0.993;0.999	D;D	0.75484	0.984;0.986	T	0.24657	-1.0154	10	0.22706	T	0.39	-19.5935	13.492	0.61402	0.0:0.0:1.0:0.0	.	536;918	D3DN61;Q86Y13	.;DZIP3_HUMAN	N	918	ENSP00000355028:D918N;ENSP00000419981:D918N	ENSP00000355028:D918N	D	+	1	0	DZIP3	109877381	0.999000	0.42202	0.957000	0.39632	0.981000	0.71138	4.230000	0.58632	2.547000	0.85894	0.491000	0.48974	GAT		PASS	0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		6	16	6	16	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049388	109049388	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:109049388G>A	ENST00000335658.6	-	5	716	c.662C>T	c.(661-663)tCt>tTt	p.S221F	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	221					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S221F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTCTTGTGGAGATTCCACTGC	0.488																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(661-663)TCT>TTT		developmental pluripotency associated 4							49.0	51.0	50.0					3																	109049388		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049388G>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.662C>T	3.37:g.109049388G>A	ENSP00000335306:p.Ser221Phe					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.S221F	p.S221F	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	717	-			221					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.662C>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520720	0.64747	.	.	ENSG00000121570	ENST00000335658	T	0.58210	0.35	3.73	3.73	0.42828	.	1.144360	0.06655	N	0.763539	T	0.72661	0.3488	M	0.74881	2.28	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.979	T	0.56866	-0.7908	9	.	.	.	-11.1035	11.2962	0.49280	0.0:0.0:1.0:0.0	.	211;221	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	F	221	ENSP00000335306:S221F	.	S	-	2	0	DPPA4	110532078	0.000000	0.05858	0.004000	0.12327	0.632000	0.37999	0.458000	0.21892	2.375000	0.81037	0.491000	0.48974	TCT		PASS	0.488	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		4	36	4	36	---	---	---	---
FAM162A	26355	broad.mit.edu	37	3	122128637	122128637	+	Missense_Mutation	SNP	C	C	A	rs200828064	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:122128637C>A	ENST00000477892.1	+	5	508	c.424C>A	c.(424-426)Cgt>Agt	p.R142S	FAM162A_ENST00000232125.5_Missense_Mutation_p.R132S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	142					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R142S(2)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AAAGAAAGCTCGTCTGAAAGA	0.433																																						uc003eez.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(424-426)CGT>AGT		growth and transformation-dependent protein							95.0	87.0	90.0					3																	122128637		1867	4113	5980	SO:0001583	missense	26355					integral to membrane		g.chr3:122128637C>A	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.424C>A	3.37:g.122128637C>A	ENSP00000419088:p.Arg142Ser						p.R142S	NM_014367	NP_055182	Q96A26	F162A_HUMAN			5	514	+			142					Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.424C>A	CCDS43139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.291712|4.291712	0.80914|0.80914	.|.	.|.	ENSG00000114023|ENSG00000114023	ENST00000232125;ENST00000477892|ENST00000440333	T;T|.	0.33216|.	1.42;1.42|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	1.063990|.	0.07175|.	N|.	0.852977|.	T|.	0.75221|.	0.3820|.	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	P|.	0.52842|.	0.956|.	P|.	0.53912|.	0.737|.	T|.	0.76767|.	-0.2838|.	10|.	0.62326|0.62326	D|D	0.03|0.03	.|.	14.6356|14.6356	0.68686|0.68686	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142|.	Q96A26|.	F162A_HUMAN|.	S|X	132;142|140	ENSP00000232125:R132S;ENSP00000419088:R142S|.	ENSP00000232125:R132S|ENSP00000405770:S140X	R|S	+|+	1|2	0|0	FAM162A|FAM162A	123611327|123611327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.337000|3.337000	0.52120|0.52120	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CGT|TCG		PASS	0.433	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		5	107	5	107	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134851685	134851685	+	Missense_Mutation	SNP	G	G	A	rs377348490		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:134851685G>A	ENST00000398015.3	+	5	1461	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	364	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R364Q(4)|p.R364L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAAAAGTGCCGGGCAGACCGC	0.602																																						uc003eqt.2																			6	Substitution - Missense(6)	p.R364L(2)	lung(4)|haematopoietic_and_lymphoid_tissue(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1090-1092)CGG>CAG		ephrin receptor EphB1 precursor		G	GLN/ARG	1,4369		0,1,2184	42.0	47.0	46.0		1091	5.4	1.0	3		46	0,8574		0,0,4287	no	missense	EPHB1	NM_004441.4	43	0,1,6471	AA,AG,GG		0.0,0.0229,0.0077	benign	364/985	134851685	1,12943	2185	4287	6472	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851685G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1091G>A	3.37:g.134851685G>A	ENSP00000381097:p.Arg364Gln					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.R364Q	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1311	+			364			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1091G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957338	0.53400	2.29E-4	0.0	ENSG00000154928	ENST00000398015	T	0.56776	0.44	5.41	5.41	0.78517	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.326142	0.29389	N	0.012282	T	0.35799	0.0944	N	0.13235	0.315	0.80722	D	1	B	0.14805	0.011	B	0.14578	0.011	T	0.14448	-1.0472	10	0.37606	T	0.19	.	12.5381	0.56152	0.0762:0.0:0.9238:0.0	.	364	P54762	EPHB1_HUMAN	Q	364	ENSP00000381097:R364Q	ENSP00000381097:R364Q	R	+	2	0	EPHB1	136334375	1.000000	0.71417	0.990000	0.47175	0.783000	0.44284	4.869000	0.63028	2.533000	0.85409	0.655000	0.94253	CGG		PASS	0.602	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	35	4	35	---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046127	151046127	+	Silent	SNP	A	A	G	rs373082357		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:151046127A>G	ENST00000325602.5	-	2	736	c.717T>C	c.(715-717)taT>taC	p.Y239Y	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	239					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.Y239Y(1)|p.Y218Y(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TGGACTTTCTATAAGAATCAT	0.318													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19032	0.0		0.0	False		,,,				2504	0.0					uc003eyv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)	4						c.(715-717)TAT>TAC		purinergic receptor P2Y, G-protein coupled, 13		A	,	1,4391	2.1+/-5.4	0,1,2195	77.0	84.0	81.0		,717	-7.0	0.0	3		81	0,8594		0,0,4297	no	intron,coding-synonymous	P2RY13,MED12L	NM_053002.4,NM_176894.2	,	0,1,6492	GG,GA,AA		0.0,0.0228,0.0077	,	,239/355	151046127	1,12985	2196	4297	6493	SO:0001819	synonymous_variant	53829					integral to membrane|plasma membrane		g.chr3:151046127A>G	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.717T>C	3.37:g.151046127A>G						MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.Y239Y	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	738	-			239			Cytoplasmic (Potential).		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Silent	SNP	ENST00000325602.5	37	c.717T>C	CCDS3158.2																																																																																				PASS	0.318	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		5	60	5	60	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905718	164905718	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:164905718G>T	ENST00000475390.1	-	2	3344	c.2901C>A	c.(2899-2901)ctC>ctA	p.L967L	SLITRK3_ENST00000241274.3_Silent_p.L967L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	967					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L967L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGGACTTCGAGGTAATCCG	0.388										HNSCC(40;0.11)																												uc003fej.3																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|pancreas(1)	10						c.(2899-2901)CTC>CTA		slit and trk like 3 protein precursor							140.0	138.0	139.0					3																	164905718		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905718G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2901C>A	3.37:g.164905718G>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.L967L	p.L967L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3345	-			967			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2901C>A	CCDS3197.1																																																																																				PASS	0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		5	145	5	145	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907242	164907242	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:164907242C>G	ENST00000475390.1	-	2	1820	c.1377G>C	c.(1375-1377)aaG>aaC	p.K459N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.K459N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	459					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.K459N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGAAGAGGCTCTTTAAGTTGG	0.433										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1375-1377)AAG>AAC		slit and trk like 3 protein precursor							55.0	57.0	57.0					3																	164907242		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907242C>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1377G>C	3.37:g.164907242C>G	ENSP00000420091:p.Lys459Asn	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.K459N	p.K459N	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1821	-			459			LRR 9.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1377G>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170467	0.21621	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.60299	0.2;0.2	5.28	1.51	0.23008	.	0.000000	0.39687	N	0.001300	T	0.60728	0.2291	L	0.56340	1.77	0.41016	D	0.985048	P	0.52170	0.951	P	0.52758	0.708	T	0.60321	-0.7286	10	0.56958	D	0.05	-13.0311	11.3535	0.49602	0.0:0.6747:0.0:0.3253	.	459	O94933	SLIK3_HUMAN	N	459	ENSP00000420091:K459N;ENSP00000241274:K459N	ENSP00000241274:K459N	K	-	3	2	SLITRK3	166389936	0.995000	0.38212	0.918000	0.36340	0.425000	0.31504	0.353000	0.20130	-0.023000	0.13963	-0.797000	0.03246	AAG		PASS	0.433	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	49	4	49	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172052809	172052809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:172052809G>T	ENST00000336824.4	+	15	1816	c.1717G>T	c.(1717-1719)Gga>Tga	p.G573*	FNDC3B_ENST00000415807.2_Nonsense_Mutation_p.G573*|FNDC3B_ENST00000416957.1_Nonsense_Mutation_p.G573*	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	573					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.G573*(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGACAGGCCTGGACCTCCTAC	0.453																																						uc003fhy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1717-1719)GGA>TGA		fibronectin type III domain containing 3B							205.0	198.0	200.0					3																	172052809		2203	4300	6503	SO:0001587	stop_gained	64778					endoplasmic reticulum|integral to membrane		g.chr3:172052809G>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1717G>T	3.37:g.172052809G>T	ENSP00000338523:p.Gly573*					FNDC3B_uc003fhz.3_Nonsense_Mutation_p.G573*|FNDC3B_uc003fia.2_Nonsense_Mutation_p.G504*	p.G573*	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	15	1889	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		573			Fibronectin type-III 4.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Nonsense_Mutation	SNP	ENST00000336824.4	37	c.1717G>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	40	8.318113	0.98757	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.3658	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	573	.	ENSP00000338523:G573X	G	+	1	0	FNDC3B	173535503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.023000	0.93683	2.937000	0.99478	0.650000	0.86243	GGA		PASS	0.453	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	199	7	199	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178921477	178921477	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:178921477G>T	ENST00000263967.3	+	5	1116	c.959G>T	c.(958-960)gGa>gTa	p.G320V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	320					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G320V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TATATGAATGGAGAAACATCT	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - Missense(2)		lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(958-960)GGA>GTA		phosphoinositide-3-kinase, catalytic, alpha							110.0	106.0	107.0					3																	178921477		1860	4086	5946	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921477G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.959G>T	3.37:g.178921477G>T	ENSP00000263967:p.Gly320Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G320V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1116	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		320					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.959G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345693	0.82022	.	.	ENSG00000121879	ENST00000263967	T	0.72505	-0.66	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.72360	-0.4317	10	0.29301	T	0.29	-12.3745	19.5398	0.95270	0.0:0.0:1.0:0.0	.	320	P42336	PK3CA_HUMAN	V	320	ENSP00000263967:G320V	ENSP00000263967:G320V	G	+	2	0	PIK3CA	180404171	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.358000	0.97109	2.694000	0.91930	0.467000	0.42956	GGA		PASS	0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	83	5	83	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179069752	179069752	+	Silent	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:179069752A>T	ENST00000471841.1	+	3	303	c.177A>T	c.(175-177)ggA>ggT	p.G59G	MFN1_ENST00000263969.5_Silent_p.G59G|MFN1_ENST00000280653.7_Silent_p.G59G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	59					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G59G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAATGCAAGGATATAAAGACA	0.353																																						uc003fjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(175-177)GGA>GGT		mitofusin 1							151.0	150.0	150.0					3																	179069752		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069752A>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.177A>T	3.37:g.179069752A>T						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.G87G	p.G59G	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	303	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		59			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.177A>T	CCDS3228.1																																																																																				PASS	0.353	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		35	111	35	111	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	31144376	31144376	+	Nonsense_Mutation	SNP	G	G	T	rs368635062		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:31144376G>T	ENST00000543491.1	+	3	3673	c.3673G>T	c.(3673-3675)Gag>Tag	p.E1225*				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1170*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGCAAAAATGAGGAAGCCAA	0.463																																						uc011bxx.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3649-3651)GAG>TAG		protocadherin 7 isoform a precursor							114.0	111.0	112.0					4																	31144376		1895	4117	6012	SO:0001587	stop_gained	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144376G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3673G>T	4.37:g.31144376G>T	ENSP00000441802:p.Glu1225*					PCDH7_uc011bxw.1_Nonsense_Mutation_p.E1170*	p.E1217*	NM_002589	NP_002580	O60245	PCDH7_HUMAN			3	4657	+			Error:Variant_position_missing_in_O60245_after_alignment					O60246|O60247|Q4W5C4	Nonsense_Mutation	SNP	ENST00000543491.1	37	c.3649G>T	CCDS54753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.262968|7.262968	0.98171|0.98171	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000543491;ENST00000333135|ENST00000511884	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.29301|.	T|.	0.29|.	.|.	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1225;1170|906	.|.	ENSP00000330302:E1170X|.	E|X	+|+	1|2	0|2	PCDH7|PCDH7	30753474|30753474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.806000|5.806000	0.69150|0.69150	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA		PASS	0.463	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		6	128	6	128	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56832003	56832003	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:56832003A>T	ENST00000257287.4	+	8	1146	c.1022A>T	c.(1021-1023)gAt>gTt	p.D341V		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	341					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.D341V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGACTGCTGATAAAGAGCTT	0.363																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1021-1023)GAT>GTT		centrosome protein 4							95.0	95.0	95.0					4																	56832003		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56832003A>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1022A>T	4.37:g.56832003A>T	ENSP00000257287:p.Asp341Val					CEP135_uc003hbj.2_Missense_Mutation_p.D47V|CEP135_uc010igz.1_Missense_Mutation_p.D171V	p.D341V	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			8	1256	+	Glioma(25;0.08)|all_neural(26;0.101)		341			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1022A>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145281	0.77888	.	.	ENSG00000174799	ENST00000257287	T	0.53423	0.62	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.64875	-0.6304	10	0.45353	T	0.12	.	15.9153	0.79512	1.0:0.0:0.0:0.0	.	341	Q66GS9	CP135_HUMAN	V	341	ENSP00000257287:D341V	ENSP00000257287:D341V	D	+	2	0	CEP135	56526760	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	8.045000	0.89436	2.173000	0.68751	0.377000	0.23210	GAT		PASS	0.363	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		9	25	9	25	---	---	---	---
AP1AR	55435	broad.mit.edu	37	4	113189328	113189328	+	Silent	SNP	A	A	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:113189328A>G	ENST00000274000.5	+	10	1027	c.672A>G	c.(670-672)gaA>gaG	p.E224E	AP1AR_ENST00000309703.6_Silent_p.E191E	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	224					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)	p.E224E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						CAATGAGAGAACGTTCCAAAA	0.363																																						uc003iaj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(670-672)GAA>GAG		adaptor-related protein complex 1 associated							65.0	65.0	65.0					4																	113189328		2203	4300	6503	SO:0001819	synonymous_variant	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113189328A>G	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.672A>G	4.37:g.113189328A>G						AP1AR_uc003iak.3_Silent_p.E191E	p.E224E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN			10	1025	+			224					B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Silent	SNP	ENST00000274000.5	37	c.672A>G	CCDS3696.1																																																																																				PASS	0.363	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		4	35	4	35	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156632319	156632319	+	Silent	SNP	G	G	T	rs1049509		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:156632319G>T	ENST00000296518.7	+	6	1211	c.1002G>T	c.(1000-1002)acG>acT	p.T334T	GUCY1A3_ENST00000511108.1_Silent_p.T334T|GUCY1A3_ENST00000513574.1_Silent_p.T334T|GUCY1A3_ENST00000455639.2_Silent_p.T334T|GUCY1A3_ENST00000393832.3_Silent_p.T76T|GUCY1A3_ENST00000506455.1_Silent_p.T334T|GUCY1A3_ENST00000511507.1_Silent_p.T334T			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	334					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.T334T(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCAACCAGACGTTTAGCGGGA	0.388																																						uc003iov.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1000-1002)ACG>ACT		guanylate cyclase 1, soluble, alpha 3 isoform A							80.0	82.0	81.0					4																	156632319		2202	4300	6502	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632319G>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1002G>T	4.37:g.156632319G>T						GUCY1A3_uc003iou.2_Silent_p.T334T|GUCY1A3_uc010iqc.2_Silent_p.T334T|GUCY1A3_uc003iow.2_Silent_p.T334T|GUCY1A3_uc010iqd.2_Silent_p.T333T|GUCY1A3_uc003iox.2_Silent_p.T334T|GUCY1A3_uc003ioz.2_Silent_p.T99T|GUCY1A3_uc003ioy.2_Silent_p.T334T|GUCY1A3_uc010iqe.2_Silent_p.T99T|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.T334T	p.T334T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1538	+	all_hematologic(180;0.24)	Renal(120;0.0854)	334					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.1002G>T	CCDS34085.1																																																																																				PASS	0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			11	62	11	62	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177094441	177094441	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:177094441A>T	ENST00000280190.4	+	27	3541	c.3385A>T	c.(3385-3387)Act>Tct	p.T1129S	WDR17_ENST00000508596.1_Missense_Mutation_p.T1090S|WDR17_ENST00000507824.2_Missense_Mutation_p.T1104S|WDR17_ENST00000393643.2_Missense_Mutation_p.T1105S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1129								p.T1129S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCAGACTGGACTTTGGATAC	0.318																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3385-3387)ACT>TCT		WD repeat domain 17 isoform 1							90.0	87.0	88.0					4																	177094441		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177094441A>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3385A>T	4.37:g.177094441A>T	ENSP00000280190:p.Thr1129Ser					WDR17_uc003iuk.2_Missense_Mutation_p.T1105S|WDR17_uc003ium.3_Missense_Mutation_p.T1090S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.T340S	p.T1129S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	27	3541	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1129					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3385A>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.23|11.23	1.577598|1.577598	0.28180|0.28180	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.58652	.|0.36;0.38;0.32	5.58|5.58	4.39|4.39	0.52855|0.52855	.|.	.|0.122950	.|0.53938	.|D	.|0.000054	T|T	0.56171|0.56171	0.1967|0.1967	M|M	0.69823|0.69823	2.125|2.125	0.43740|0.43740	D|D	0.996234|0.996234	.|B;B;B	.|0.22746	.|0.074;0.043;0.043	.|B;B;B	.|0.23018	.|0.043;0.014;0.014	T|T	0.54569|0.54569	-0.8274|-0.8274	5|10	.|0.49607	.|T	.|0.09	-17.3467|-17.3467	11.2813|11.2813	0.49197|0.49197	0.9281:0.0:0.0719:0.0|0.9281:0.0:0.0719:0.0	.|.	.|1105;1090;1129	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	V|S	363|1090;1105;1129;1105	.|ENSP00000422763:T1090S;ENSP00000377258:T1105S;ENSP00000280190:T1129S	.|ENSP00000280190:T1129S	D|T	+|+	2|1	0|0	WDR17|WDR17	177331435|177331435	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.220000|0.220000	0.24768|0.24768	4.541000|4.541000	0.60670|0.60670	0.943000|0.943000	0.37553|0.37553	0.477000|0.477000	0.44152|0.44152	GAC|ACT		PASS	0.318	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			4	23	4	23	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183603016	183603016	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:183603016G>T	ENST00000511685.1	+	11	2007	c.1884G>T	c.(1882-1884)ggG>ggT	p.G628G	TENM3_ENST00000406950.2_Silent_p.G628G|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	628	EGF-like 4. {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.G628G(1)									GTATCCACGGGGAATGTCACT	0.448																																						uc003ivd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1882-1884)GGG>GGT		odz, odd Oz/ten-m homolog 3							81.0	76.0	78.0					4																	183603016		1971	4148	6119	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183603016G>T	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.1884G>T	4.37:g.183603016G>T						ODZ3_uc003ive.1_Silent_p.G34G	p.G628G	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)	10	1921	+		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)	628			EGF-like 4.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.1884G>T	CCDS47165.1																																																																																				PASS	0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	26	5	26	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183675766	183675766	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:183675766C>A	ENST00000511685.1	+	22	4369	c.4246C>A	c.(4246-4248)Ctg>Atg	p.L1416M	TENM3_ENST00000406950.2_Missense_Mutation_p.L1416M|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1416					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.L1416M(1)									CAGTGGGGTCCTGTACATTAC	0.502																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4246-4248)CTG>ATG		odz, odd Oz/ten-m homolog 3							51.0	51.0	51.0					4																	183675766		1976	4168	6144	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183675766C>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.4246C>A	4.37:g.183675766C>A	ENSP00000424226:p.Leu1416Met					ODZ3_uc003ive.1_Missense_Mutation_p.L829M	p.L1416M	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)	21	4283	+		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)	1416			Extracellular (Potential).|NHL 4.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4246C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065402	0.55432	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.92595	-3.07;-3.07	5.53	2.91	0.33838	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.92890	0.7738	M	0.85299	2.745	0.51482	D	0.99992	P	0.48162	0.906	P	0.46585	0.521	D	0.91433	0.5167	9	0.62326	D	0.03	.	10.558	0.45129	0.0:0.7936:0.0:0.2064	.	1416	Q9P273	TEN3_HUMAN	M	1416	ENSP00000424226:L1416M;ENSP00000385276:L1416M	ENSP00000385276:L1416M	L	+	1	2	ODZ3	183912760	0.997000	0.39634	0.998000	0.56505	0.989000	0.77384	2.163000	0.42377	0.458000	0.26988	-0.140000	0.14226	CTG		PASS	0.502	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	35	4	35	---	---	---	---
ACSL1	2180	broad.mit.edu	37	4	185687866	185687866	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:185687866G>T	ENST00000515030.1	-	13	1498	c.1173C>A	c.(1171-1173)gaC>gaA	p.D391E	ACSL1_ENST00000504342.1_Missense_Mutation_p.D391E|ACSL1_ENST00000437665.3_Missense_Mutation_p.D220E|ACSL1_ENST00000281455.2_Missense_Mutation_p.D391E|ACSL1_ENST00000513317.1_Missense_Mutation_p.D391E|ACSL1_ENST00000454703.2_Missense_Mutation_p.D220E|ACSL1_ENST00000507295.1_Missense_Mutation_p.D357E			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	391					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.D391E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGAGGCAAAGTCCAAGAGCC	0.493																																						uc003iww.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1171-1173)GAC>GAA		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						115.0	108.0	111.0					4																	185687866		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185687866G>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1173C>A	4.37:g.185687866G>T	ENSP00000422607:p.Asp391Glu					ACSL1_uc011ckm.1_Missense_Mutation_p.D220E|ACSL1_uc003iwt.1_Missense_Mutation_p.D391E|ACSL1_uc003iwu.1_Missense_Mutation_p.D391E|ACSL1_uc011ckn.1_Missense_Mutation_p.D357E|ACSL1_uc003iws.1_5'UTR	p.D391E	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	13	1467	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	391			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1173C>A	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	6.391	0.440242	0.12104	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.06	3.32	0.38043	AMP-dependent synthetase/ligase (1);	0.045278	0.85682	D	0.000000	T	0.14313	0.0346	N	0.16368	0.405	0.50813	D	0.999896	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.20384	0.029;0.006;0.006	T	0.09037	-1.0693	10	0.14656	T	0.56	-32.6467	10.037	0.42135	0.2792:0.0:0.7208:0.0	.	357;391;391	E7EPM6;B7Z452;P33121	.;.;ACSL1_HUMAN	E	220;391;391;357;220;391;391	ENSP00000407165:D220E;ENSP00000422607:D391E;ENSP00000281455:D391E;ENSP00000426244:D357E;ENSP00000405687:D220E;ENSP00000425006:D391E;ENSP00000426150:D391E	ENSP00000281455:D391E	D	-	3	2	ACSL1	185924860	0.965000	0.33210	1.000000	0.80357	0.967000	0.64934	0.111000	0.15458	0.528000	0.28580	0.655000	0.94253	GAC		PASS	0.493	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		4	76	4	76	---	---	---	---
UFSP2	55325	broad.mit.edu	37	4	186343691	186343691	+	Silent	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr4:186343691G>C	ENST00000264689.6	-	2	146	c.30C>G	c.(28-30)ctC>ctG	p.L10L	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	10						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)	p.L10L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TTATTCTGAAGAGTATATCCA	0.299																																						uc003ixo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)CTC>CTG		UFM1-specific peptidase 2							36.0	38.0	38.0					4																	186343691		2203	4295	6498	SO:0001819	synonymous_variant	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186343691G>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.30C>G	4.37:g.186343691G>C						UFSP2_uc003ixq.2_5'UTR|UFSP2_uc003ixp.2_RNA	p.L10L	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	2	147	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	10					Q6IA77|Q96FS3	Silent	SNP	ENST00000264689.6	37	c.30C>G	CCDS3842.1																																																																																				PASS	0.299	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		4	32	4	32	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5240017	5240017	+	Silent	SNP	C	C	G	rs72647759	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:5240017C>G	ENST00000274181.7	+	16	2640	c.2502C>G	c.(2500-2502)acC>acG	p.T834T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	834	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T834T(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGGACCAACCAACGAGACAC	0.507																																						uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2500-2502)ACC>ACG		ADAM metallopeptidase with thrombospondin type 1							91.0	88.0	89.0					5																	5240017		1876	4117	5993	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5240017C>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2502C>G	5.37:g.5240017C>G						ADAMTS16_uc003jdk.1_Silent_p.T834T	p.T834T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2640	+			834			Spacer.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2502C>G	CCDS43299.1																																																																																				PASS	0.507	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		18	104	18	104	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24537668	24537668	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:24537668C>A	ENST00000264463.4	-	3	854	c.347G>T	c.(346-348)cGa>cTa	p.R116L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R116L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTATCAATTCGCCTTGTGGC	0.398										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(346-348)CGA>CTA		cadherin 10, type 2 preproprotein							146.0	135.0	139.0					5																	24537668		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537668C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.347G>T	5.37:g.24537668C>A	ENSP00000264463:p.Arg116Leu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R116L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	679	-			116			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.347G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137357	0.94517	.	.	ENSG00000040731	ENST00000264463	T	0.53857	0.6	5.73	5.73	0.89815	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	L	0.53780	1.695	0.53688	D	0.999973	D	0.58620	0.983	P	0.59357	0.856	T	0.67581	-0.5634	10	0.66056	D	0.02	.	18.8832	0.92365	0.0:1.0:0.0:0.0	.	116	Q9Y6N8	CAD10_HUMAN	L	116	ENSP00000264463:R116L	ENSP00000264463:R116L	R	-	2	0	CDH10	24573425	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.745000	0.68672	2.715000	0.92844	0.563000	0.77884	CGA		PASS	0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		4	87	4	87	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41475802	41475802	+	Intron	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:41475802C>A	ENST00000377801.3	-	1	178				PLCXD3_ENST00000328457.3_Intron			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ttgagaccatcactacgacag	0.458																																						hsa-mir-1274a|MI0006410																			0					0															190.0	182.0	185.0					5																	41475802		1568	3582	5150	SO:0001627	intron_variant	100302199							g.chr5:41475802C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.103+34723G>T	5.37:g.41475802C>A						PLCXD3_uc003jmm.1_Intron										+								A6NL04	RNA	SNP	ENST00000377801.3	37	c.69C>A	CCDS34150.1																																																																																				PASS	0.458	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		13	124	13	124	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	133996855	133996855	+	Silent	SNP	A	A	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:133996855A>G	ENST00000398844.2	+	2	432	c.144A>G	c.(142-144)caA>caG	p.Q48Q	SEC24A_ENST00000322887.4_Silent_p.Q48Q	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	48					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.Q48Q(1)|p.Q48H(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)			CAGTGAGCCAAGGATACAATT	0.418																																						uc003kzs.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)		0						c.(142-144)CAA>CAG		SEC24 related gene family, member A							256.0	249.0	251.0					5																	133996855		1917	4127	6044	SO:0001819	synonymous_variant	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.chr5:133996855A>G	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.144A>G	5.37:g.133996855A>G						SEC24A_uc011cxu.1_5'UTR	p.Q48Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	432	+			48					A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.144A>G	CCDS43363.1																																																																																				PASS	0.418	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			42	246	42	246	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202419	140202419	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:140202419C>A	ENST00000529859.1	+	1	1059	c.1059C>A	c.(1057-1059)acC>acA	p.T353T	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.T353T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.T353T|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	353	Cadherin 4. {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.T353T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATAACCACCCTTTTCCTGC	0.498																																						uc003lhl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(1057-1059)ACC>ACA		protocadherin alpha 5 isoform 1 precursor							87.0	80.0	82.0					5																	140202419		2203	4300	6503	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202419C>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1059C>A	5.37:g.140202419C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.T353T|PCDHA5_uc003lhj.1_Silent_p.T353T	p.T353T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1059	+			353			Extracellular (Potential).|Cadherin 4.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1059C>A	CCDS54917.1																																																																																				PASS	0.498	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	59	5	59	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140262130	140262130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:140262130G>T	ENST00000289272.2	+	1	277	c.277G>T	c.(277-279)Gag>Tag	p.E93*	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Nonsense_Mutation_p.E93*|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	93	Cadherin 1. {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.E93*(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCGACCGCGAGGAGCTGTG	0.587																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(277-279)GAG>TAG		protocadherin alpha 13 isoform 1 precursor							122.0	134.0	130.0					5																	140262130		2203	4297	6500	SO:0001587	stop_gained	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262130G>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.277G>T	5.37:g.140262130G>T	ENSP00000289272:p.Glu93*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Nonsense_Mutation_p.E93*|PCDHA13_uc003lid.2_Nonsense_Mutation_p.E93*	p.E93*	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	277	+			93			Cadherin 1.|Extracellular (Potential).		O75277	Nonsense_Mutation	SNP	ENST00000289272.2	37	c.277G>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	37	6.010994	0.97200	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1623	0.93539	0.0:0.0:1.0:0.0	.	.	.	.	X	93	.	ENSP00000289272:E93X	E	+	1	0	PCDHA13	140242314	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.731000	0.98807	2.621000	0.88768	0.561000	0.74099	GAG		PASS	0.587	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	140	5	140	---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140347837	140347837	+	Missense_Mutation	SNP	C	C	A	rs201156874		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:140347837C>A	ENST00000289269.5	+	1	2018	c.1486C>A	c.(1486-1488)Cca>Aca	p.P496T	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P496T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACAGACCCAGATGAAAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22657	0.0		0.001	False		,,,				2504	0.0				Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1486-1488)CCA>ACA		protocadherin alpha subfamily C, 2 isoform 1							121.0	116.0	118.0					5																	140347837		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347837C>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1486C>A	5.37:g.140347837C>A	ENSP00000289269:p.Pro496Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.P496T	p.P496T	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1726	+			496			Cadherin 5.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1486C>A	CCDS4242.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.92	1.782610	0.31502	.	.	ENSG00000243232	ENST00000289269	T	0.61859	0.07	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.181466	0.27080	N	0.021026	T	0.73583	0.3605	M	0.81341	2.54	0.80722	D	1	D;P	0.56035	0.974;0.608	P;B	0.52823	0.71;0.197	T	0.76035	-0.3106	10	0.72032	D	0.01	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	496;496	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	T	496	ENSP00000289269:P496T	ENSP00000289269:P496T	P	+	1	0	PCDHAC2	140328021	0.775000	0.28604	1.000000	0.80357	0.998000	0.95712	1.575000	0.36493	2.865000	0.98341	0.655000	0.94253	CCA		PASS	0.502	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		16	77	16	77	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564189	140564189	+	Silent	SNP	G	G	T	rs559502555		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:140564189G>T	ENST00000361016.2	+	1	3210	c.2055G>T	c.(2053-2055)tcG>tcT	p.S685S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	685					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.S685S(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)			AGGCCAACTCGCTCACTGTCT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		15952	0.0		0.0	False		,,,				2504	0.001					uc003liv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2053-2055)TCG>TCT		protocadherin beta 16 precursor							60.0	64.0	62.0					5																	140564189		2202	4300	6502	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.chr5:140564189G>T	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.2055G>T	5.37:g.140564189G>T						PCDHB9_uc003liw.1_5'Flank	p.S685S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3210	+			685			Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2055G>T	CCDS4251.1																																																																																				PASS	0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		4	39	4	39	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564195	140564195	+	Silent	SNP	T	T	C	rs528641008	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:140564195T>C	ENST00000361016.2	+	1	3216	c.2061T>C	c.(2059-2061)acT>acC	p.T687T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	687					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.T687T(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)			ACTCGCTCACTGTCTACCTGG	0.692													T|||	2	0.000399361	0.0	0.0	5008	,	,		16146	0.0		0.0	False		,,,				2504	0.002					uc003liv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2059-2061)ACT>ACC		protocadherin beta 16 precursor							64.0	68.0	67.0					5																	140564195		2202	4300	6502	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.chr5:140564195T>C	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.2061T>C	5.37:g.140564195T>C						PCDHB9_uc003liw.1_5'Flank	p.T687T	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3216	+			687			Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2061T>C	CCDS4251.1																																																																																				PASS	0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		6	49	6	49	---	---	---	---
GRPEL2	134266	broad.mit.edu	37	5	148730657	148730657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:148730657G>T	ENST00000329271.3	+	4	600	c.490G>T	c.(490-492)Gag>Tag	p.E164*	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	164					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)	p.E164*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGCCTGGAGAAACTGAC	0.517																																						uc003lqj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(490-492)GAG>TAG		GrpE-like 2, mitochondrial precursor							147.0	143.0	145.0					5																	148730657		2203	4300	6503	SO:0001587	stop_gained	134266				protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity	g.chr5:148730657G>T	AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.490G>T	5.37:g.148730657G>T	ENSP00000329558:p.Glu164*					GRPEL2_uc011dca.1_3'UTR	p.E164*	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	616	+			164					B4DFA6|Q49AJ6	Nonsense_Mutation	SNP	ENST00000329271.3	37	c.490G>T	CCDS4295.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884010	0.91814	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.95	2.89	0.33648	.	0.204155	0.42682	D	0.000673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-13.0241	16.2933	0.82760	0.0:0.5095:0.4905:0.0	.	.	.	.	X	164	.	ENSP00000329558:E164X	E	+	1	0	GRPEL2	148710850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.717000	0.47227	1.474000	0.48178	0.655000	0.94253	GAG		PASS	0.517	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		7	151	7	151	---	---	---	---
PCYOX1L	78991	broad.mit.edu	37	5	148747746	148747746	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:148747746C>T	ENST00000274569.4	+	6	1076	c.1014C>T	c.(1012-1014)caC>caT	p.H338H	PCYOX1L_ENST00000514349.1_Silent_p.H248H	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	338				H -> P (in Ref. 7; BAC03391). {ECO:0000305}.	prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)	p.H338H(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGGTCCACGGCTACCTCA	0.552											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	uc003lqk.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1012-1014)CAC>CAT		prenylcysteine oxidase 1 like precursor							197.0	187.0	190.0					5																	148747746		2203	4300	6503	SO:0001819	synonymous_variant	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747746C>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1014C>T	5.37:g.148747746C>T			OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_uc003lql.2_Silent_p.H321H|PCYOX1L_uc010jgz.2_Silent_p.H262H|PCYOX1L_uc003lqm.2_Silent_p.H220H|PCYOX1L_uc003lqn.2_Silent_p.H248H	p.H338H	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1076	+			338	H -> P (in Ref. 7; BAC03391).				Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Silent	SNP	ENST00000274569.4	37	c.1014C>T	CCDS4296.1																																																																																				PASS	0.552	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		7	123	7	123	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149511557	149511557	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:149511557G>T	ENST00000261799.4	-	8	1697	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	410					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.Q410K(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCTGTAGCTGGAAGGAGAGC	0.617			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1228-1230)CAG>AAG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						146.0	118.0	128.0					5																	149511557		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149511557G>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1228C>A	5.37:g.149511557G>T	ENSP00000261799:p.Gln410Lys					PDGFRB_uc010jhd.2_Missense_Mutation_p.Q249K	p.Q410K	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1697	-		all_hematologic(541;0.224)	410			Extracellular (Potential).		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1228C>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907768	0.17833	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.65916	-0.18	5.38	3.44	0.39384	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.263528	0.27155	N	0.020666	T	0.34890	0.0913	N	0.08118	0	0.21604	N	0.999623	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.003	T	0.19257	-1.0311	10	0.09084	T	0.74	.	8.5383	0.33377	0.0798:0.0:0.7239:0.1962	.	410;410	A8KAM8;P09619	.;PGFRB_HUMAN	K	410;80	ENSP00000261799:Q410K	ENSP00000261799:Q410K	Q	-	1	0	PDGFRB	149491750	0.963000	0.33076	1.000000	0.80357	0.982000	0.71751	0.584000	0.23864	0.487000	0.27698	0.655000	0.94253	CAG		PASS	0.617	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		4	25	4	25	---	---	---	---
FABP6	2172	broad.mit.edu	37	5	159640821	159640821	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr5:159640821G>C	ENST00000393980.4	+	3	276	c.130G>C	c.(130-132)Gga>Cga	p.G44R	FABP6_ENST00000393982.1_Missense_Mutation_p.G44R	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G44R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACACATAAAGGAAAGGTATG	0.478																																					Colon(29;562 677 12756 16385 20992)	uc003lxx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)GGA>CGA		gastrotropin isoform 1							138.0	150.0	146.0					5																	159640821		1988	4188	6176	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159640821G>C	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000393980.4:c.130G>C	5.37:g.159640821G>C	ENSP00000377549:p.Gly44Arg					FABP6_uc003lxz.1_Missense_Mutation_p.G44R	p.G44R	NM_001130958	NP_001124430	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	276	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Error:Variant_position_missing_in_P51161_after_alignment					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000393980.4	37	c.130G>C	CCDS43393.1	.	.	.	.	.	.	.	.	.	.	G	6.697	0.497179	0.12762	.	.	ENSG00000170231	ENST00000393980;ENST00000393982	T;T	0.10382	2.88;2.88	2.01	1.06	0.20224	.	86.564400	0.05881	U	0.626399	T	0.09555	0.0235	.	.	.	0.09310	N	1	B	0.30889	0.299	B	0.33042	0.157	T	0.39961	-0.9588	9	0.62326	D	0.03	.	3.8391	0.08906	0.2483:0.0:0.7517:0.0	.	44	P51161-2	.	R	44	ENSP00000377549:G44R;ENSP00000377551:G44R	ENSP00000377549:G44R	G	+	1	0	FABP6	159573399	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	0.762000	0.26503	0.370000	0.24538	0.549000	0.68633	GGA		PASS	0.478	FABP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252678.4	NM_001040442		9	42	9	42	---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29080293	29080293	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:29080293T>G	ENST00000377169.1	+	1	626	c.626T>G	c.(625-627)tTt>tGt	p.F209C		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F209C(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGCTCCATATTTGTTCTCATA	0.448																																						uc011dll.1																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)TTT>TGT		olfactory receptor, family 2, subfamily J,							103.0	114.0	110.0					6																	29080293		1319	2590	3909	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080293T>G		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.626T>G	6.37:g.29080293T>G	ENSP00000366374:p.Phe209Cys						p.F209C	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	626	+			209			Helical; Name=5; (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.626T>G	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.267196	0.23136	.	.	ENSG00000204701	ENST00000377169	T	0.00107	8.72	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.64630	1.985	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.29181	-1.0020	9	0.87932	D	0	.	10.804	0.46507	0.0:0.0:0.0:1.0	.	209	O76001	OR2J3_HUMAN	C	209	ENSP00000366374:F209C	ENSP00000366374:F209C	F	+	2	0	OR2J3	29188272	0.000000	0.05858	0.560000	0.28344	0.500000	0.33767	0.205000	0.17356	1.268000	0.44264	0.358000	0.22013	TTT		PASS	0.448	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			5	60	5	60	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29454983	29454983	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:29454983C>A	ENST00000377127.3	-	1	755	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	233					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A233S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAAAGGATAGCATGGAAGAGC	0.443																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(2)	9						c.(697-699)GCT>TCT		MAS1 oncogene-like							47.0	48.0	48.0					6																	29454983		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454983C>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.697G>T	6.37:g.29454983C>A	ENSP00000366331:p.Ala233Ser						p.A233S	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	697	-			233			Helical; Name=5; (Potential).		Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.697G>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	0.379	-0.929646	0.02359	.	.	ENSG00000204687	ENST00000377127	T	0.36878	1.23	1.09	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04815	0.0130	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.25759	0.063	T	0.41431	-0.9509	9	0.39692	T	0.17	.	3.8997	0.09155	0.0:0.5668:0.2488:0.1845	.	233	P35410	MAS1L_HUMAN	S	233	ENSP00000366331:A233S	ENSP00000366331:A233S	A	-	1	0	MAS1L	29562962	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.461000	0.06712	-0.383000	0.07858	-1.153000	0.01818	GCT		PASS	0.443	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		5	47	5	47	---	---	---	---
LY6G5B	58496	broad.mit.edu	37	6	31638749	31638749	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:31638749G>T	ENST00000375864.4	+	1	806	c.22G>T	c.(22-24)Ggt>Tgt	p.G8C	CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|LY6G5B_ENST00000409525.1_5'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	8						extracellular region (GO:0005576)		p.G8C(1)		lung(4)	4						TATGCTTGTAGGTGTGCTGGT	0.572																																						uc003nvt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)GGT>TGT		lymphocyte antigen 6 complex G5B precursor							201.0	176.0	184.0					6																	31638749		2203	4300	6503	SO:0001583	missense	58496					extracellular region		g.chr6:31638749G>T	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"""chromosome 6 open reading frame 19"""	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.22G>T	6.37:g.31638749G>T	ENSP00000365024:p.Gly8Cys					CSNK2B_uc003nvs.1_Intron	p.G8C	NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN			1	22	+			8					B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	c.22G>T	CCDS34400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.10|10.10	1.257125|1.257125	0.22965|0.22965	.|.	.|.	ENSG00000240053|ENSG00000240053	ENST00000409691|ENST00000375864	.|T	.|0.34472	.|1.36	4.39|4.39	1.57|1.57	0.23409|0.23409	.|.	.|.	.|.	.|.	.|.	.|T	.|0.18923	.|0.0454	L|L	0.27053|0.27053	0.805|0.805	.|.	.|.	.|.	.|P	.|0.50710	.|0.938	.|P	.|0.54100	.|0.742	.|T	.|0.04551	.|-1.0943	.|8	.|0.51188	.|T	.|0.08	.|-1.0E-4	6.6467|6.6467	0.22939|0.22939	0.0974:0.3475:0.5551:0.0|0.0974:0.3475:0.5551:0.0	.|.	.|8	.|Q8NDX9	.|LY65B_HUMAN	.|C	-1|8	.|ENSP00000365024:G8C	.|ENSP00000365024:G8C	.|G	+|+	.|1	.|0	LY6G5B|LY6G5B	31746728|31746728	0.010000|0.010000	0.17322|0.17322	0.017000|0.017000	0.16124|0.16124	0.213000|0.213000	0.24496|0.24496	0.712000|0.712000	0.25779|0.25779	0.219000|0.219000	0.20840|0.20840	-0.218000|-0.218000	0.12543|0.12543	.|GGT		PASS	0.572	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000124389.4			6	149	6	149	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33146896	33146896	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:33146896C>A	ENST00000374708.4	-	14	1565	c.1307G>T	c.(1306-1308)aGa>aTa	p.R436I	COL11A2_ENST00000357486.1_Missense_Mutation_p.R501I|COL11A2_ENST00000374714.1_Missense_Mutation_p.R496I|COL11A2_ENST00000395197.1_Missense_Mutation_p.R462I|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000341947.2_Missense_Mutation_p.R522I|COL11A2_ENST00000361917.1_Missense_Mutation_p.R415I|COL11A2_ENST00000374712.1_Missense_Mutation_p.R441I|COL11A2_ENST00000374713.1_Missense_Mutation_p.R475I	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	522	Collagen-like 1.|Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R522I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGAGGTCCTCTGGGGCCCTG	0.652																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1564-1566)AGA>ATA		collagen, type XI, alpha 2 isoform 1							26.0	28.0	27.0					6																	33146896		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33146896C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1307G>T	6.37:g.33146896C>A	ENSP00000363840:p.Arg436Ile					COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.R436I|COL11A2_uc003ocz.1_Missense_Mutation_p.R415I	p.R522I	NM_080680	NP_542411	P13942	COBA2_HUMAN			16	1793	-			522			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1565G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751947	0.89753	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	L	0.49778	1.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.999	T	0.01146	-1.1437	10	0.87932	D	0	.	12.4991	0.55946	0.0:1.0:0.0:0.0	.	415;436;522	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	I	436;522;501;496;475;462;441;415;522	ENSP00000363840:R436I;ENSP00000339915:R522I;ENSP00000350079:R501I;ENSP00000363846:R496I;ENSP00000363845:R475I;ENSP00000378623:R462I;ENSP00000363844:R441I;ENSP00000355123:R415I;ENSP00000405520:R522I	ENSP00000339915:R522I	R	-	2	0	COL11A2	33254874	0.001000	0.12720	1.000000	0.80357	0.954000	0.61252	1.615000	0.36922	2.324000	0.78689	0.448000	0.29417	AGA		PASS	0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	16	4	16	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51890462	51890462	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:51890462G>T	ENST00000371117.3	-	32	4421	c.4146C>A	c.(4144-4146)ctC>ctA	p.L1382L	PKHD1_ENST00000340994.4_Silent_p.L1382L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1382	IPT/TIG 8; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L1382L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAATTGCTGGAGCACCACAG	0.512																																						uc003pah.1																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(4144-4146)CTC>CTA		fibrocystin isoform 1							76.0	70.0	72.0					6																	51890462		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890462G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4146C>A	6.37:g.51890462G>T						PKHD1_uc003pai.2_Silent_p.L1382L	p.L1382L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4422	-	Lung NSC(77;0.0605)		1382			IPT/TIG 8; atypical.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.4146C>A	CCDS4935.1																																																																																				PASS	0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		16	66	16	66	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54735295	54735295	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:54735295A>T	ENST00000306858.7	+	2	367	c.251A>T	c.(250-252)gAt>gTt	p.D84V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	84								p.D84V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATTCCTGTGATGATACCTTA	0.433																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(250-252)GAT>GTT		hypothetical protein LOC222584							130.0	131.0	131.0					6																	54735295		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735295A>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.251A>T	6.37:g.54735295A>T	ENSP00000304078:p.Asp84Val						p.D84V	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			2	367	+	Lung NSC(77;0.0178)|Renal(3;0.122)		84					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.251A>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102033	0.76983	.	.	ENSG00000168143	ENST00000306858	T	0.12147	2.71	5.49	5.49	0.81192	.	0.981041	0.08348	N	0.959752	T	0.30417	0.0764	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00313	-1.1825	10	0.72032	D	0.01	-42.0041	15.8844	0.79232	1.0:0.0:0.0:0.0	.	84	Q5T0W9	FA83B_HUMAN	V	84	ENSP00000304078:D84V	ENSP00000304078:D84V	D	+	2	0	FAM83B	54843254	1.000000	0.71417	0.998000	0.56505	0.812000	0.45895	7.267000	0.78462	2.216000	0.71823	0.377000	0.23210	GAT		PASS	0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		5	91	5	91	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64404570	64404570	+	Silent	SNP	C	C	A	rs139681301		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:64404570C>A	ENST00000262043.3	+	6	2936	c.2596C>A	c.(2596-2598)Cgg>Agg	p.R866R	PHF3_ENST00000393387.1_Silent_p.R866R			Q92576	PHF3_HUMAN	PHD finger protein 3	866					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R866R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTTTTACCTCGGAGATCCTC	0.403																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2596-2598)CGG>AGG		PHD finger protein 3							92.0	104.0	100.0					6																	64404570		2202	4300	6502	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404570C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2596C>A	6.37:g.64404570C>A						PHF3_uc010kaf.1_Silent_p.R866R|PHF3_uc003pem.2_Silent_p.R819R|PHF3_uc010kag.1_Silent_p.R778R|PHF3_uc010kah.1_Silent_p.R680R|PHF3_uc003pen.2_Silent_p.R778R|PHF3_uc011dxs.1_Silent_p.R135R	p.R866R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		5	2622	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		866					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.2596C>A	CCDS4966.1																																																																																				PASS	0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	188	5	188	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74477846	74477846	+	Silent	SNP	A	A	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:74477846A>G	ENST00000287097.5	+	14	1678	c.1566A>G	c.(1564-1566)gaA>gaG	p.E522E	CD109_ENST00000422508.2_Silent_p.E445E|CD109_ENST00000437994.2_Silent_p.E522E			Q6YHK3	CD109_HUMAN	CD109 molecule	522					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.E522E(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACACCAGAAAATTCTTGGA	0.338																																						uc003php.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(1564-1566)GAA>GAG		CD109 antigen isoform 1 precursor							89.0	95.0	93.0					6																	74477846		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74477846A>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1566A>G	6.37:g.74477846A>G						CD109_uc010kaz.2_Silent_p.E522E|CD109_uc003phq.2_Silent_p.E522E|CD109_uc010kba.2_Silent_p.E445E	p.E522E	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			14	1991	+			522					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.1566A>G	CCDS4982.1																																																																																				PASS	0.338	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		5	54	5	54	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130505284	130505284	+	Missense_Mutation	SNP	C	C	A	rs41285308	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:130505284C>A	ENST00000368134.2	-	9	1226	c.618G>T	c.(616-618)caG>caT	p.Q206H	SAMD3_ENST00000437477.2_Missense_Mutation_p.Q206H|SAMD3_ENST00000532763.1_Missense_Mutation_p.Q204H|SAMD3_ENST00000457563.2_Missense_Mutation_p.Q230H|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q206H|SAMD3_ENST00000324172.6_Missense_Mutation_p.Q206H	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	206								p.Q206H(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAGGGTGGGCCTGCAGCAGGG	0.473																																						uc003qbv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(616-618)CAG>CAT		sterile alpha motif domain containing 3 isoform							103.0	89.0	94.0					6																	130505284		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130505284C>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.618G>T	6.37:g.130505284C>A	ENSP00000357116:p.Gln206His					SAMD3_uc003qbx.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbw.2_Missense_Mutation_p.Q206H|SAMD3_uc010kfg.1_Missense_Mutation_p.Q206H|SAMD3_uc003qby.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbz.1_Missense_Mutation_p.Q165H	p.Q206H	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	8	944	-			206					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.618G>T	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882225	0.72294	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309	T;T;T;T;T;T;T	0.53206	0.74;0.73;0.74;0.74;0.78;0.63;0.63	5.53	3.69	0.42338	.	0.089265	0.49305	D	0.000144	T	0.50990	0.1648	M	0.74881	2.28	0.37087	D	0.899264	P;D;P;P	0.71674	0.938;0.998;0.911;0.857	P;P;P;P	0.61397	0.754;0.888;0.826;0.65	T	0.58702	-0.7590	10	0.87932	D	0	.	9.265	0.37636	0.0:0.8266:0.0:0.1734	.	230;205;206;206	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	H	206;230;206;206;204;206;205	ENSP00000357116:Q206H;ENSP00000402092:Q230H;ENSP00000403565:Q206H;ENSP00000391163:Q206H;ENSP00000436088:Q204H;ENSP00000324874:Q206H;ENSP00000436115:Q205H	ENSP00000324874:Q206H	Q	-	3	2	SAMD3	130546977	1.000000	0.71417	0.958000	0.39756	0.943000	0.58893	0.951000	0.29135	0.634000	0.30469	0.655000	0.94253	CAG		PASS	0.473	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		10	29	10	29	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132014691	132014691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:132014691C>T	ENST00000414305.1	+	16	1667	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	ENPP3_ENST00000357639.3_Nonsense_Mutation_p.R447*|ENPP3_ENST00000358229.5_Nonsense_Mutation_p.R447*			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	447	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R447*(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTGCCAAAGCGACTGCACTA	0.393																																						uc003qcu.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1339-1341)CGA>TGA		ectonucleotide pyrophosphatase/phosphodiesterase							182.0	163.0	170.0					6																	132014691		2203	4300	6503	SO:0001587	stop_gained	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132014691C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1339C>T	6.37:g.132014691C>T	ENSP00000406261:p.Arg447*					ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Nonsense_Mutation_p.R447*	p.R447*	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	16	1686	+	Breast(56;0.0753)		447			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Nonsense_Mutation	SNP	ENST00000414305.1	37	c.1339C>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	37	6.294028	0.97449	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	.	.	.	5.8	3.88	0.44766	.	0.216185	0.32175	N	0.006474	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1303	13.545	0.61697	0.2829:0.7171:0.0:0.0	.	.	.	.	X	447	.	ENSP00000350265:R447X	R	+	1	2	ENPP3	132056384	1.000000	0.71417	0.962000	0.40283	0.846000	0.48090	2.192000	0.42649	1.402000	0.46780	0.563000	0.77884	CGA		PASS	0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			10	80	10	80	---	---	---	---
SLC35D3	340146	broad.mit.edu	37	6	137245645	137245645	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:137245645C>T	ENST00000331858.4	+	2	1227	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	354					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.G354G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CAGCAGGTGGCCCCGCTCAGG	0.652																																						uc003qhe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1060-1062)GGC>GGT		solute carrier family 35, member D3							42.0	44.0	43.0					6																	137245645		2203	4300	6503	SO:0001819	synonymous_variant	340146				carbohydrate transport	integral to membrane		g.chr6:137245645C>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1062C>T	6.37:g.137245645C>T							p.G354G	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1227	+	Colorectal(23;0.24)		354					B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	c.1062C>T	CCDS34544.1																																																																																				PASS	0.652	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		6	11	6	11	---	---	---	---
RAB32	10981	broad.mit.edu	37	6	146870640	146870640	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:146870640G>T	ENST00000367495.3	+	2	470	c.291G>T	c.(289-291)aaG>aaT	p.K97N		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	97					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.K97N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TATACTACAAGGAAGCTGTTG	0.358																																						uc003qln.1																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)AAG>AAT		RAB32, member RAS oncogene family							96.0	95.0	96.0					6																	146870640		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146870640G>T	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.291G>T	6.37:g.146870640G>T	ENSP00000356465:p.Lys97Asn						p.K97N	NM_006834	NP_006825	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	2	471	+		Ovarian(120;0.142)	97						Missense_Mutation	SNP	ENST00000367495.3	37	c.291G>T	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371408	0.61624	.	.	ENSG00000118508	ENST00000367495	T	0.80123	-1.34	5.48	3.34	0.38264	Small GTP-binding protein domain (1);	0.044725	0.85682	D	0.000000	T	0.76069	0.3936	M	0.67517	2.055	0.80722	D	1	P	0.47545	0.897	P	0.53360	0.724	T	0.77107	-0.2710	10	0.87932	D	0	-10.4912	6.3253	0.21240	0.7293:0.0:0.2707:0.0	.	97	Q13637	RAB32_HUMAN	N	97	ENSP00000356465:K97N	ENSP00000356465:K97N	K	+	3	2	RAB32	146912333	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.295000	0.33377	0.521000	0.28445	0.591000	0.81541	AAG		PASS	0.358	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		5	51	5	51	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165756886	165756886	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:165756886C>A	ENST00000366882.1	-	20	2215	c.2061G>T	c.(2059-2061)tgG>tgT	p.W687C	PDE10A_ENST00000354448.4_Missense_Mutation_p.W687C|PDE10A_ENST00000539869.2_Missense_Mutation_p.W697C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	687					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.W687C(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ATACCTCAGCCCAGAATTCTG	0.368																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2059-2061)TGG>TGT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						108.0	105.0	106.0					6																	165756886		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165756886C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2061G>T	6.37:g.165756886C>A	ENSP00000355847:p.Trp687Cys					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.W617C|PDE10A_uc003quo.2_Missense_Mutation_p.W697C	p.W687C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	20	2302	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	687					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2061G>T		.	.	.	.	.	.	.	.	.	.	C	24.2	4.510241	0.85282	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.81821	-1.54;-1.54	5.67	5.67	0.87782	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	D	0.88391	0.3008	10	0.87932	D	0	.	19.3597	0.94432	0.0:1.0:0.0:0.0	.	697;687	Q9ULW9;Q9Y233	.;PDE10_HUMAN	C	687;715;697;687;686	ENSP00000355847:W687C;ENSP00000346435:W687C	ENSP00000341187:W697C	W	-	3	0	PDE10A	165676876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.105000	0.77031	2.671000	0.90904	0.585000	0.79938	TGG		PASS	0.368	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	49	7	49	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168347398	168347398	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr6:168347398C>T	ENST00000447894.2	+	26	3349	c.3349C>T	c.(3349-3351)Cgt>Tgt	p.R1117C	MLLT4_ENST00000392108.3_Missense_Mutation_p.R1117C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1117C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1100C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1124C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1116C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1117C|MLLT4_ENST00000507679.1_3'UTR			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1117					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1101C(1)|p.R1117C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTCAGATCGTCGTGGCTCAGG	0.393			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(3346-3348)CGT>TGT		myeloid/lymphoid or mixed-lineage leukemia							73.0	82.0	79.0					6																	168347398		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168347398C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3349C>T	6.37:g.168347398C>T	ENSP00000404595:p.Arg1117Cys					MLLT4_uc003qwb.1_Missense_Mutation_p.R1101C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1117C|MLLT4_uc003qwg.1_Missense_Mutation_p.R426C	p.R1116C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	26	3488	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1117					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3346C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.240025	0.95240	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05081	3.71;3.61;3.71;3.7;3.5;3.61;3.61	5.25	5.25	0.73442	.	0.209111	0.42821	D	0.000643	T	0.15219	0.0367	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.996	P;P;P;P	0.62184	0.613;0.899;0.854;0.784	T	0.00643	-1.1630	10	0.87932	D	0	0.0217	19.2008	0.93711	0.0:1.0:0.0:0.0	.	1117;1116;1117;1101	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	1117;1124;1117;1117;1100;1117;1116;1117	ENSP00000341118:R1117C;ENSP00000252692:R1124C;ENSP00000375956:R1117C;ENSP00000355771:R1117C;ENSP00000375960:R1100C;ENSP00000383623:R1116C;ENSP00000404595:R1117C	ENSP00000345834:R1117C	R	+	1	0	MLLT4	168090247	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	5.499000	0.66937	2.606000	0.88127	0.655000	0.94253	CGT		PASS	0.393	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		9	57	9	57	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86493636	86493636	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:86493636C>A	ENST00000361669.2	+	6	3704	c.2605C>A	c.(2605-2607)Cgg>Agg	p.R869R	GRM3_ENST00000546348.1_Silent_p.R461R|GRM3_ENST00000439827.1_Missense_Mutation_p.A513E|GRM3_ENST00000394720.2_Missense_Mutation_p.A511E|GRM3_ENST00000536043.1_Silent_p.R741R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	869					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R869R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GTGCAATGGGCGGGAAGTCCT	0.473																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2605-2607)CGG>AGG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						281.0	229.0	247.0					7																	86493636		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86493636C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2605C>A	7.37:g.86493636C>A						GRM3_uc010lef.2_Missense_Mutation_p.A511E|GRM3_uc010leg.2_Silent_p.R741R|GRM3_uc010leh.2_Silent_p.R461R	p.R869R	NM_000840	NP_000831	Q14832	GRM3_HUMAN			6	3704	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		869			Cytoplasmic (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.2605C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232881	0.58777	.	.	ENSG00000198822	ENST00000439827;ENST00000394720	D;D	0.90563	-2.69;-2.69	5.99	3.98	0.46160	.	.	.	.	.	D	0.85080	0.5615	.	.	.	0.23411	N	0.997736	B	0.02656	0.0	B	0.04013	0.001	T	0.76884	-0.2794	8	0.72032	D	0.01	.	8.1462	0.31113	0.4491:0.4333:0.1175:0.0	.	513	G5E9K2	.	E	513;511	ENSP00000398767:A513E;ENSP00000378209:A511E	ENSP00000378209:A511E	A	+	2	0	GRM3	86331572	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.700000	0.37815	1.477000	0.48234	0.655000	0.94253	GCG		PASS	0.473	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			33	89	33	89	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100551669	100551669	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:100551669C>A	ENST00000319509.7	+	1	420	c.420C>A	c.(418-420)gcC>gcA	p.A140A				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1805	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.A140A(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGACGTCAGCCACTGGGACCC	0.483																																						uc003uxk.1																			2	Substitution - coding silent(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							742.0	698.0	711.0					7																	100551669		876	1991	2867	SO:0001819	synonymous_variant	0							g.chr7:100551669C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.420C>A	7.37:g.100551669C>A						uc003uxl.1_Silent_p.A40A								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.920C>A																																																																																					PASS	0.483	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		86	301	86	301	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686777	100686777	+	Missense_Mutation	SNP	C	C	A	rs138142210	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:100686777C>A	ENST00000306151.4	+	3	12144	c.12080C>A	c.(12079-12081)aCg>aAg	p.T4027K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4027					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T4027M(2)|p.T4027K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGCATCAACGCTTTCTGCA	0.537																																						uc003uxp.1																			3	Substitution - Missense(3)		prostate(1)|large_intestine(1)|lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12079-12081)ACG>AAG		mucin 17 precursor							330.0	285.0	300.0					7																	100686777		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686777C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12080C>A	7.37:g.100686777C>A	ENSP00000302716:p.Thr4027Lys					MUC17_uc010lho.1_RNA	p.T4027K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	12133	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4027			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12080C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.960	-0.439104	0.04636	.	.	ENSG00000169876	ENST00000306151	T	0.02103	4.45	1.69	-1.66	0.08265	.	.	.	.	.	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.06405	0.002	T	0.47548	-0.9109	9	0.27785	T	0.31	.	5.0714	0.14609	0.0:0.3773:0.0:0.6227	.	4027	Q685J3	MUC17_HUMAN	K	4027	ENSP00000302716:T4027K	ENSP00000302716:T4027K	T	+	2	0	MUC17	100473497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.697000	0.05098	-0.342000	0.08363	-0.359000	0.07587	ACG		PASS	0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		29	99	29	99	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122303469	122303469	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:122303469C>A	ENST00000449022.2	-	3	627	c.608G>T	c.(607-609)tGg>tTg	p.W203L	CADPS2_ENST00000334010.7_Missense_Mutation_p.W203L|CADPS2_ENST00000412584.2_Missense_Mutation_p.W203L|CADPS2_ENST00000313070.7_Missense_Mutation_p.W203L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	203					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.W203L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTGGCTATCCATGAGCTCAA	0.413																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(607-609)TGG>TTG		Ca2+-dependent activator protein for secretion 2							141.0	134.0	136.0					7																	122303469		1928	4149	6077	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122303469C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.608G>T	7.37:g.122303469C>A	ENSP00000398481:p.Trp203Leu					CADPS2_uc010lkq.2_Missense_Mutation_p.W203L	p.W203L	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			3	771	-			203					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.608G>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951466	0.92660	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.964;0.997	P;D	0.75484	0.841;0.986	D	0.96841	0.9618	10	0.87932	D	0	-5.3093	18.8783	0.92347	0.0:1.0:0.0:0.0	.	203;203	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	L	203;203;203;170;203;203	ENSP00000325581:W203L;ENSP00000333940:W203L;ENSP00000400401:W203L;ENSP00000398481:W203L	ENSP00000325581:W203L	W	-	2	0	CADPS2	122090705	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.468000	0.83385	0.650000	0.86243	TGG		PASS	0.413	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	62	5	62	---	---	---	---
RNF133	168433	broad.mit.edu	37	7	122338498	122338498	+	Nonsense_Mutation	SNP	T	T	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:122338498T>A	ENST00000340112.2	-	1	712	c.475A>T	c.(475-477)Aaa>Taa	p.K159*	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	159	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K159*(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCGTGCCTTTTAAGTTACCA	0.423																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(475-477)AAA>TAA		ring finger protein 133							111.0	106.0	108.0					7																	122338498		2203	4299	6502	SO:0001587	stop_gained	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338498T>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.475A>T	7.37:g.122338498T>A	ENSP00000344489:p.Lys159*					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.K159*	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	711	-			159			PA.		A4D0W2|Q8N7G7	Nonsense_Mutation	SNP	ENST00000340112.2	37	c.475A>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	37	6.497030	0.97616	.	.	ENSG00000188050	ENST00000340112	.	.	.	5.62	5.62	0.85841	.	0.247537	0.33591	N	0.004759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4998	0.75687	0.0:0.0:0.0:1.0	.	.	.	.	X	159	.	ENSP00000344489:K159X	K	-	1	0	RNF133	122125734	0.997000	0.39634	0.924000	0.36721	0.929000	0.56500	2.669000	0.46825	2.137000	0.66172	0.459000	0.35465	AAA		PASS	0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		14	73	14	73	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132193312	132193312	+	Silent	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:132193312G>C	ENST00000359827.3	-	2	1103	c.141C>G	c.(139-141)ccC>ccG	p.P47P	PLXNA4_ENST00000378539.5_Silent_p.P47P|PLXNA4_ENST00000321063.4_Silent_p.P47P|PLXNA4_ENST00000423507.2_Silent_p.P47P			Q9HCM2	PLXA4_HUMAN	plexin A4	47	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.P47P(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACCCTCGGCGGGCTCTCCTC	0.587																																						uc003vra.3																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(139-141)CCC>CCG		plexin A4 isoform 1							40.0	42.0	42.0					7																	132193312		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193312G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.141C>G	7.37:g.132193312G>C						PLXNA4_uc003vrc.2_Silent_p.P47P|PLXNA4_uc003vrb.2_Silent_p.P47P	p.P47P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	370	-			47			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.141C>G	CCDS43646.1																																																																																				PASS	0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	26	9	26	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133314881	133314881	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:133314881C>A	ENST00000253861.4	+	10	1530	c.1501C>A	c.(1501-1503)Cac>Aac	p.H501N	EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.H111N|EXOC4_ENST00000539845.1_Missense_Mutation_p.H400N	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	501					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.H501N(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CGTCATATTCCACCCATTACT	0.383																																						uc003vrk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(1501-1503)CAC>AAC		SEC8 protein isoform a							116.0	111.0	112.0					7																	133314881		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133314881C>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1501C>A	7.37:g.133314881C>A	ENSP00000253861:p.His501Asn					EXOC4_uc011kpo.1_Missense_Mutation_p.H400N|EXOC4_uc003vrl.2_Missense_Mutation_p.H111N|EXOC4_uc011kpp.1_Missense_Mutation_p.H33N	p.H501N	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			10	1536	+		Esophageal squamous(399;0.129)	501					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1501C>A	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982423	0.53827	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	5.93	5.93	0.95920	.	0.059790	0.64402	D	0.000002	T	0.47930	0.1472	N	0.14661	0.345	0.80722	D	1	B;B;B	0.19583	0.037;0.002;0.004	B;B;B	0.18561	0.022;0.002;0.001	T	0.37337	-0.9710	9	0.18276	T	0.48	.	19.9318	0.97122	0.0:1.0:0.0:0.0	.	33;111;501	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	N	501;120;400;111	.	ENSP00000253861:H501N	H	+	1	0	EXOC4	132965421	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.123000	0.77176	2.805000	0.96524	0.655000	0.94253	CAC		PASS	0.383	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		5	77	5	77	---	---	---	---
OR2A12	346525	broad.mit.edu	37	7	143793122	143793122	+	Silent	SNP	A	A	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:143793122A>C	ENST00000408949.2	+	1	982	c.922A>C	c.(922-924)Aga>Cga	p.R308R		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R308R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTGGAAACAGAGATCAATGTG	0.423																																						uc011kty.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(922-924)AGA>CGA		olfactory receptor, family 2, subfamily A,							122.0	118.0	119.0					7																	143793122		1864	4100	5964	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793122A>C		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.922A>C	7.37:g.143793122A>C							p.R308R	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	922	+	Melanoma(164;0.0783)		308			Cytoplasmic (Potential).		Q6IF43	Silent	SNP	ENST00000408949.2	37	c.922A>C	CCDS43670.1																																																																																				PASS	0.423	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			6	135	6	135	---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148495745	148495745	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:148495745G>T	ENST00000325222.4	+	20	2391	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	CUL1_ENST00000602748.1_Missense_Mutation_p.E704D|CUL1_ENST00000409469.1_Missense_Mutation_p.E704D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	704					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E704D(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAAACATCGAGGAAGACCGCA	0.483																																						uc010lpg.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2110-2112)GAG>GAT		cullin 1							227.0	205.0	213.0					7																	148495745		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148495745G>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2112G>T	7.37:g.148495745G>T	ENSP00000326804:p.Glu704Asp					CUL1_uc003wey.2_Missense_Mutation_p.E704D|CUL1_uc003wez.2_Missense_Mutation_p.E594D|CUL1_uc003wfa.2_Missense_Mutation_p.E365D	p.E704D	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		20	2638	+	Melanoma(164;0.15)		704					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.2112G>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.944389	0.53079	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.76186	-1.0;-1.0	4.91	3.1	0.35709	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.050554	0.85682	D	0.000000	T	0.61248	0.2332	N	0.25957	0.775	0.80722	D	1	B;P	0.37466	0.026;0.596	B;B	0.41813	0.067;0.367	T	0.50866	-0.8777	10	0.10902	T	0.67	-8.1016	10.7983	0.46474	0.1538:0.0:0.8462:0.0	.	631;704	E7EWR0;Q13616	.;CUL1_HUMAN	D	704;704;631	ENSP00000387160:E704D;ENSP00000326804:E704D	ENSP00000326804:E704D	E	+	3	2	CUL1	148126678	1.000000	0.71417	0.981000	0.43875	0.887000	0.51463	4.575000	0.60908	0.489000	0.27749	0.462000	0.41574	GAG		PASS	0.483	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		7	179	7	179	---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	156974359	156974359	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr7:156974359G>T	ENST00000348165.5	+	7	1124	c.764G>T	c.(763-765)gGt>gTt	p.G255V	UBE3C_ENST00000389103.4_Missense_Mutation_p.G212V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	255					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G255V(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTCCGGAAGGTGCGAGGTGA	0.338																																						uc010lqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(763-765)GGT>GTT		ubiquitin protein ligase E3C							74.0	76.0	75.0					7																	156974359		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156974359G>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.764G>T	7.37:g.156974359G>T	ENSP00000309198:p.Gly255Val					UBE3C_uc003wnf.2_Missense_Mutation_p.G212V|UBE3C_uc003wng.2_Missense_Mutation_p.G255V	p.G255V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	7	1076	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	255					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.764G>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018356	0.54576	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.42900	0.96	5.18	3.33	0.38152	.	0.050049	0.85682	D	0.000000	T	0.41119	0.1145	L	0.60455	1.87	0.80722	D	1	B;B;P	0.39737	0.059;0.018;0.685	B;B;P	0.45660	0.054;0.032;0.489	T	0.15321	-1.0441	10	0.15952	T	0.53	.	8.5254	0.33302	0.138:0.1271:0.735:0.0	.	255;255;212	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	V	255;212	ENSP00000309198:G255V	ENSP00000309198:G255V	G	+	2	0	UBE3C	156667120	1.000000	0.71417	0.993000	0.49108	0.875000	0.50365	2.779000	0.47734	1.145000	0.42336	0.557000	0.71058	GGT		PASS	0.338	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		8	75	8	75	---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51449319	51449319	+	Missense_Mutation	SNP	C	C	A	rs533918626		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:51449319C>A	ENST00000522124.1	+	11	1292	c.631C>A	c.(631-633)Cta>Ata	p.L211I	SNTG1_ENST00000517473.1_Missense_Mutation_p.L211I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L211I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L211I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	211					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.L211I(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACTGATCCCTCTACTTCATTC	0.483																																						uc010lxy.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(631-633)CTA>ATA		syntrophin, gamma 1							218.0	193.0	201.0					8																	51449319		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51449319C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.631C>A	8.37:g.51449319C>A	ENSP00000429842:p.Leu211Ile					SNTG1_uc003xqs.1_Missense_Mutation_p.L211I|SNTG1_uc010lxz.1_Missense_Mutation_p.L211I|SNTG1_uc011ldl.1_RNA	p.L211I	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			12	1002	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	211					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.631C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740964	0.49151	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.91	2.73	0.32206	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.77486	2.375	0.58432	D	0.999997	D;P	0.89917	1.0;0.956	D;D	0.91635	0.999;0.931	D	0.86740	0.1954	10	0.72032	D	0.01	-10.725	10.9223	0.47171	0.0:0.8112:0.0:0.1888	.	211;211	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	211	ENSP00000429276:L211I;ENSP00000429842:L211I;ENSP00000431123:L211I;ENSP00000276467:L211I	ENSP00000276467:L211I	L	+	1	2	SNTG1	51611872	0.991000	0.36638	0.224000	0.23877	0.224000	0.24922	2.950000	0.49081	1.072000	0.40860	0.491000	0.48974	CTA		PASS	0.483	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			6	148	6	148	---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68423884	68423884	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:68423884G>T	ENST00000297770.4	-	4	539	c.324C>A	c.(322-324)ctC>ctA	p.L108L	CPA6_ENST00000518549.1_Silent_p.L108L|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	108						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L108L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GATCTTCTATGAGGACCCTGA	0.383																																						uc003xxq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(322-324)CTC>CTA		carboxypeptidase A6 isoform 1 precursor							140.0	143.0	142.0					8																	68423884		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68423884G>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.324C>A	8.37:g.68423884G>T						CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Silent_p.L108L	p.L108L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		4	580	-			108					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.324C>A	CCDS6200.1																																																																																				PASS	0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		6	125	6	125	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69009359	69009359	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:69009359G>T	ENST00000288368.4	+	22	2753	c.2476G>T	c.(2476-2478)Gac>Tac	p.D826Y	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	826					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D826Y(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTATGAGTACGACAGCACAGC	0.458																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2476-2478)GAC>TAC		DEP domain containing 2 isoform a							177.0	149.0	158.0					8																	69009359		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69009359G>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2476G>T	8.37:g.69009359G>T	ENSP00000288368:p.Asp826Tyr					PREX2_uc003xxu.1_Missense_Mutation_p.D826Y|PREX2_uc011lez.1_Missense_Mutation_p.D761Y	p.D826Y	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			22	2503	+			826					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2476G>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760496	0.89932	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.35048	1.33	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	L	0.57536	1.79	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.995	D;P;D	0.68192	0.956;0.836;0.921	T	0.54801	-0.8239	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	826;826;826	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Y	826	ENSP00000288368:D826Y	ENSP00000288368:D826Y	D	+	1	0	PREX2	69171913	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	9.823000	0.99369	2.937000	0.99478	0.650000	0.86243	GAC		PASS	0.458	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		12	78	12	78	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744099	70744099	+	Silent	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:70744099C>G	ENST00000260126.4	-	2	1516	c.810G>C	c.(808-810)gcG>gcC	p.A270A	RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.A270A|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.A270A|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGAATCTGCGCGCAAATGA	0.502																																						uc003xyl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(808-810)GCG>GCC		solute carrier organic anion transporter family,							104.0	105.0	105.0					8																	70744099		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744099C>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.810G>C	8.37:g.70744099C>G						SLCO5A1_uc010lzb.2_Silent_p.A270A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.A270A|SLCO5A1_uc010lzc.2_Silent_p.A270A	p.A270A	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1517	-	Breast(64;0.0654)		270			Helical; Name=4; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.810G>C	CCDS6205.1																																																																																				PASS	0.502	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		10	66	10	66	---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101153374	101153374	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:101153374C>A	ENST00000428847.2	-	2	1424	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	370					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D336Y(2)|p.D370Y(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTATGGTGTCCCCAACTTTG	0.463																																						uc003yjd.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(1108-1110)GAC>TAC		F-box protein 43 isoform b							137.0	127.0	130.0					8																	101153374		1890	4127	6017	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101153374C>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1108G>T	8.37:g.101153374C>A	ENSP00000403293:p.Asp370Tyr					FBXO43_uc003yje.2_Missense_Mutation_p.D336Y|FBXO43_uc010mbp.1_Missense_Mutation_p.D370Y	p.D370Y	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1821	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		370						Missense_Mutation	SNP	ENST00000428847.2	37	c.1108G>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291898	0.40594	.	.	ENSG00000156509	ENST00000428847	T	0.36699	1.24	5.46	2.65	0.31530	.	0.350827	0.32518	N	0.005991	T	0.49457	0.1558	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.64042	0.921;0.921	T	0.31888	-0.9927	10	0.66056	D	0.02	-4.448	6.6818	0.23125	0.0:0.6061:0.1229:0.271	.	336;370	C9J908;Q4G163	.;FBX43_HUMAN	Y	370	ENSP00000403293:D370Y	ENSP00000403293:D370Y	D	-	1	0	FBXO43	101222550	0.004000	0.15560	0.713000	0.30519	0.691000	0.40173	0.414000	0.21164	0.781000	0.33589	0.655000	0.94253	GAC		PASS	0.463	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		20	64	20	64	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110453071	110453071	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:110453071C>T	ENST00000378402.5	+	33	4193	c.4089C>T	c.(4087-4089)acC>acT	p.T1363T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1363	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T1365T(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGAGAATACCGTGCTGTTAG	0.383										HNSCC(38;0.096)																												uc003yne.2																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4087-4089)ACC>ACT		fibrocystin L precursor							166.0	157.0	160.0					8																	110453071		1837	4088	5925	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110453071C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4089C>T	8.37:g.110453071C>T		HNSCC(38;0.096)					p.T1363T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		33	4193	+			1363			Extracellular (Potential).|IPT/TIG 7.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.4089C>T	CCDS47911.1																																																																																				PASS	0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		12	129	12	129	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135621002	135621002	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:135621002G>A	ENST00000377838.3	-	5	929	c.755C>T	c.(754-756)aCa>aTa	p.T252I	ZFAT_ENST00000520356.1_Missense_Mutation_p.T240I|ZFAT_ENST00000520727.1_Missense_Mutation_p.T240I|ZFAT_ENST00000429442.2_Missense_Mutation_p.T240I|ZFAT_ENST00000520214.1_Missense_Mutation_p.T240I|ZFAT_ENST00000523399.1_Missense_Mutation_p.T190I	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	252					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T252I(1)|p.T240I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTCATAAGGTGTCTGCTGAAT	0.512																																						uc003yup.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(754-756)ACA>ATA		zinc finger protein 406 isoform ZFAT-1							136.0	131.0	132.0					8																	135621002		1971	4155	6126	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135621002G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.755C>T	8.37:g.135621002G>A	ENSP00000367069:p.Thr252Ile					ZFAT_uc003yun.2_Missense_Mutation_p.T240I|ZFAT_uc003yuo.2_Missense_Mutation_p.T240I|ZFAT_uc010meh.2_Missense_Mutation_p.T240I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.T240I|ZFAT_uc010mej.2_Missense_Mutation_p.T190I|ZFAT_uc003yur.2_Missense_Mutation_p.T240I	p.T252I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		5	930	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		252					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.755C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964889	0.53507	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257	T;T;T;T;T;T;T	0.46819	2.86;2.78;2.8;2.77;2.78;2.79;0.86	5.94	5.94	0.96194	.	0.262195	0.38605	N	0.001627	T	0.34221	0.0890	N	0.14661	0.345	0.37083	D	0.899097	B;B;P;B	0.35793	0.315;0.084;0.521;0.386	B;B;B;B	0.37692	0.043;0.017;0.256;0.044	T	0.43956	-0.9359	10	0.62326	D	0.03	-14.2897	12.6355	0.56681	0.0748:0.0:0.9252:0.0	.	190;240;240;252	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	I	240;240;240;252;240;240;190;240;190	ENSP00000427879:T240I;ENSP00000427831:T240I;ENSP00000394501:T240I;ENSP00000367069:T252I;ENSP00000428483:T240I;ENSP00000429091:T190I;ENSP00000429983:T190I	ENSP00000326997:T240I	T	-	2	0	ZFAT	135690184	1.000000	0.71417	0.970000	0.41538	0.955000	0.61496	5.704000	0.68347	2.826000	0.97356	0.561000	0.74099	ACA		PASS	0.512	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		8	105	8	105	---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142178277	142178277	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr8:142178277G>T	ENST00000262585.2	+	13	1966	c.1688G>T	c.(1687-1689)cGa>cTa	p.R563L	DENND3_ENST00000424248.1_Missense_Mutation_p.R511L|DENND3_ENST00000519811.1_Missense_Mutation_p.R643L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	563					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R563L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGTACCTCCGAGGGCTCGTT	0.532																																						uc003yvy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1687-1689)CGA>CTA		DENN/MADD domain containing 3							116.0	110.0	112.0					8																	142178277		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142178277G>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1688G>T	8.37:g.142178277G>T	ENSP00000262585:p.Arg563Leu					DENND3_uc010mep.2_Missense_Mutation_p.R524L|DENND3_uc003yvz.1_Missense_Mutation_p.R247L	p.R563L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	1966	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		563					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1688G>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464092	0.84425	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.23147	2.33;1.92;2.3	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.985;0.991;0.979	T	0.58691	-0.7592	10	0.87932	D	0	-16.2455	19.5206	0.95183	0.0:0.0:1.0:0.0	.	643;511;563	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	L	563;511;643	ENSP00000262585:R563L;ENSP00000410594:R511L;ENSP00000428714:R643L	ENSP00000262585:R563L	R	+	2	0	DENND3	142247459	1.000000	0.71417	0.592000	0.28758	0.509000	0.34042	8.947000	0.93000	2.619000	0.88677	0.462000	0.41574	CGA		PASS	0.532	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		4	84	4	84	---	---	---	---
ELAVL2	1993	broad.mit.edu	37	9	23701384	23701384	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr9:23701384G>C	ENST00000397312.2	-	5	980	c.706C>G	c.(706-708)Cgt>Ggt	p.R236G	ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265G|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	236					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R236G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTAAAACGCTGTGCCTGC	0.458																																						uc003zpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(706-708)CGT>GGT		ELAV (embryonic lethal, abnormal vision,							256.0	249.0	251.0					9																	23701384		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701384G>C	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.706C>G	9.37:g.23701384G>C	ENSP00000380479:p.Arg236Gly					ELAVL2_uc003zps.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpt.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpv.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpw.2_Missense_Mutation_p.R236G	p.R236G	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	981	-			236					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.706C>G	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833776	0.50951	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.15603	2.41;2.87;2.87;2.87	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.84948	2.725	0.80722	D	1	P;P	0.39352	0.667;0.669	B;P	0.52031	0.411;0.688	T	0.35943	-0.9768	10	0.87932	D	0	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	236;236	Q12926;Q12926-2	ELAV2_HUMAN;.	G	236;236;236;236;236;264	ENSP00000223951:R236G;ENSP00000380479:R236G;ENSP00000440998:R236G;ENSP00000369460:R236G	ENSP00000223951:R236G	R	-	1	0	ELAVL2	23691384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.488000	0.53229	2.812000	0.96745	0.563000	0.77884	CGT		PASS	0.458	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		30	182	30	182	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79323950	79323950	+	Missense_Mutation	SNP	G	G	C	rs534534621		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr9:79323950G>C	ENST00000376718.3	-	8	3363	c.3240C>G	c.(3238-3240)gaC>gaG	p.D1080E	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D721E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1080					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.D1080E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCTGGGGTCGTCGTAACTGG	0.512																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3238-3240)GAC>GAG		prune homolog 2							263.0	224.0	236.0					9																	79323950		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323950G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3240C>G	9.37:g.79323950G>C	ENSP00000365908:p.Asp1080Glu						p.D1080E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	3364	-			1080					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3240C>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748482|2.748482	0.49257|0.49257	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.52526|.	0.66;0.69|.	5.94|5.94	-4.03|-4.03	0.04021|0.04021	.|.	0.318759|.	0.27134|.	N|.	0.020767|.	T|T	0.36413|0.36413	0.0966|0.0966	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B|.	0.33345|.	0.409|.	B|.	0.24974|.	0.057|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.40728|.	T|.	0.16|.	-6.6734|-6.6734	3.4922|3.4922	0.07642|0.07642	0.1838:0.2084:0.4506:0.1573|0.1838:0.2084:0.4506:0.1573	.|.	1080|.	Q8WUY3|.	PRUN2_HUMAN|.	E|G	1080;721;1079|402	ENSP00000365908:D1080E;ENSP00000397425:D721E|.	ENSP00000365908:D1080E|.	D|R	-|-	3|1	2|2	PRUNE2|PRUNE2	78513770|78513770	0.886000|0.886000	0.30341|0.30341	0.892000|0.892000	0.35008|0.35008	0.938000|0.938000	0.57974|0.57974	-0.245000|-0.245000	0.08890|0.08890	-0.783000|-0.783000	0.04534|0.04534	-1.149000|-1.149000	0.01842|0.01842	GAC|CGA		PASS	0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		18	89	18	89	---	---	---	---
HEMGN	55363	broad.mit.edu	37	9	100693232	100693232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr9:100693232C>A	ENST00000259456.3	-	4	588	c.445G>T	c.(445-447)Gag>Tag	p.E149*		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	149					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.E149*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTTGGTACTCAGAAAAATTC	0.378																																						uc004axy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(445-447)GAG>TAG		hemogen							143.0	141.0	141.0					9																	100693232		2203	4300	6503	SO:0001587	stop_gained	55363				cell differentiation|multicellular organismal development			g.chr9:100693232C>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.445G>T	9.37:g.100693232C>A	ENSP00000259456:p.Glu149*					HEMGN_uc004axz.2_Nonsense_Mutation_p.E149*	p.E149*	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	553	-		Acute lymphoblastic leukemia(62;0.0559)	149					Q6XAR3|Q86XY5|Q9NPC0	Nonsense_Mutation	SNP	ENST00000259456.3	37	c.445G>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.167931	0.38315	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.09	-1.1	0.09872	.	1.393200	0.04332	N	0.352536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.5194	6.1898	0.20518	0.0:0.5394:0.1303:0.3303	.	.	.	.	X	149	.	ENSP00000259456:E149X	E	-	1	0	HEMGN	99733053	.	.	0.014000	0.15608	0.003000	0.03518	.	.	-0.461000	0.06993	-1.937000	0.00501	GAG		PASS	0.378	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		5	93	5	93	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123875857	123875857	+	Silent	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr9:123875857A>T	ENST00000373855.1	+	10	1460	c.1200A>T	c.(1198-1200)acA>acT	p.T400T	CNTRL_ENST00000238341.5_Silent_p.T400T|CNTRL_ENST00000373865.2_Silent_p.T400T			Q7Z7A1	CNTRL_HUMAN	centriolin	400					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.T400T(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGTTTGCCACAGAGAGTTATA	0.378																																						uc004bkx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1198-1200)ACA>ACT		centrosomal protein 110kDa							101.0	99.0	99.0					9																	123875857		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875857A>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1200A>T	9.37:g.123875857A>T						CEP110_uc004bkw.2_Silent_p.T400T|CEP110_uc004bky.1_Silent_p.T4T	p.T400T	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			8	1231	+			400					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.1200A>T	CCDS35118.1																																																																																				PASS	0.378	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		13	92	13	92	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135941993	135941993	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr9:135941993C>T	ENST00000372080.4	+	5	640	c.624C>T	c.(622-624)ccC>ccT	p.P208P	CEL_ENST00000351304.7_Silent_p.P205P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	205					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.P208P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGGGGACCCCAACAACATCA	0.642																																						uc010naa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(622-624)CCC>CCT		carboxyl ester lipase precursor							94.0	105.0	102.0					9																	135941993		1959	4150	6109	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941993C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.624C>T	9.37:g.135941993C>T							p.P208P	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	640	+			205					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.624C>T	CCDS43896.1																																																																																				PASS	0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			12	65	12	65	---	---	---	---
LYZL2	119180	broad.mit.edu	37	10	30915048	30915048	+	Missense_Mutation	SNP	T	T	A	rs143775752	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:30915048T>A	ENST00000375318.2	-	3	478	c.422A>T	c.(421-423)cAc>cTc	p.H141L		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	95					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.H141L(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GCAGGCGACGTGGCAGTGGTT	0.557																																						uc001ivk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CAC>CTC		lysozyme-like 2							171.0	147.0	156.0					10																	30915048		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915048T>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.422A>T	10.37:g.30915048T>A	ENSP00000364467:p.His141Leu						p.H141L	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			3	435	-		Prostate(175;0.151)	95					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.422A>T	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403631	0.42613	.	.	ENSG00000151033	ENST00000375318	T	0.75477	-0.94	2.16	2.16	0.27623	.	0.285349	0.33401	N	0.004959	T	0.73442	0.3587	M	0.88906	2.99	0.37272	D	0.907457	P	0.38551	0.636	B	0.36766	0.232	T	0.77950	-0.2395	10	0.72032	D	0.01	-27.6221	6.338	0.21306	0.0:0.0:0.0:1.0	.	141	Q7Z4W2-2	.	L	141	ENSP00000364467:H141L	ENSP00000364467:H141L	H	-	2	0	LYZL2	30955054	0.847000	0.29606	0.876000	0.34364	0.451000	0.32288	1.560000	0.36331	1.244000	0.43870	0.254000	0.18369	CAC		PASS	0.557	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		6	75	6	75	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31791294	31791294	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:31791294A>T	ENST00000320985.10	+	4	448	c.338A>T	c.(337-339)gAg>gTg	p.E113V	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.E97V|ZEB1_ENST00000361642.5_Missense_Mutation_p.E114V|ZEB1_ENST00000542815.3_Missense_Mutation_p.E46V|ZEB1_ENST00000560721.2_Missense_Mutation_p.E93V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	113					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E113V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GATGAATGCGAGTCAGATGCA	0.338																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(337-339)GAG>GTG		zinc finger E-box binding homeobox 1 isoform b							100.0	92.0	95.0					10																	31791294		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31791294A>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.338A>T	10.37:g.31791294A>T	ENSP00000319248:p.Glu113Val					ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.E114V|ZEB1_uc001ivv.3_Missense_Mutation_p.E93V|ZEB1_uc010qeh.1_Missense_Mutation_p.E46V|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.E96V|ZEB1_uc009xlp.2_Missense_Mutation_p.E97V	p.E113V	NM_030751	NP_110378	P37275	ZEB1_HUMAN			4	401	+		Prostate(175;0.0156)	113					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.338A>T	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.066|6.066	0.380453|0.380453	0.11466|0.11466	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.80123|.	-1.34;-1.34;-1.34;-1.34;-1.34|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.181514|.	0.38272|.	N|.	0.001747|.	T|T	0.23572|0.23572	0.0570|0.0570	N|N	0.02539|0.02539	-0.55|-0.55	0.23227|0.23227	N|N	0.998088|0.998088	B;B;B;B;B;B|.	0.10296|.	0.0;0.003;0.0;0.0;0.003;0.0|.	B;B;B;B;B;B|.	0.04013|.	0.0;0.001;0.0;0.001;0.0;0.0|.	T|T	0.37957|0.37957	-0.9683|-0.9683	10|6	0.23302|0.59425	T|D	0.38|0.04	-16.7747|-16.7747	16.358|16.358	0.83243|0.83243	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	46;97;113;93;114;113|.	F5H4I8;E9PCM7;B2RBI8;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;ZEB1_HUMAN|.	V|C	113;114;113;46;113;93;114;97|5	ENSP00000354487:E114V;ENSP00000444891:E46V;ENSP00000319248:E113V;ENSP00000415961:E114V;ENSP00000391612:E97V|.	ENSP00000319248:E113V|ENSP00000443742:S5C	E|S	+|+	2|1	0|0	ZEB1|ZEB1	31831300|31831300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.382000|3.382000	0.52463|0.52463	2.260000|2.260000	0.74910|0.74910	0.528000|0.528000	0.53228|0.53228	GAG|AGT		PASS	0.338	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		5	26	5	26	---	---	---	---
TMEM72	643236	broad.mit.edu	37	10	45430487	45430487	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:45430487G>A	ENST00000544540.1	+	4	863	c.379G>A	c.(379-381)Gag>Aag	p.E127K	TMEM72-AS1_ENST00000450287.2_RNA|RP11-285G1.9_ENST00000425541.2_lincRNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	245						integral component of membrane (GO:0016021)		p.E245K(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TGGGGACAGTGAGCCAGAGGA	0.602																																						uc001jbn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(733-735)GAG>AAG		transmembrane protein 72							105.0	104.0	104.0					10																	45430487		1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430487G>A	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.379G>A	10.37:g.45430487G>A	ENSP00000439911:p.Glu127Lys					uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E127K	p.E245K	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	930	+			245					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.733G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.005819	0.74932	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.41	5.41	0.78517	.	0.266405	0.30850	N	0.008743	T	0.69061	0.3069	M	0.69823	2.125	0.44098	D	0.996868	P	0.37330	0.59	B	0.43536	0.423	T	0.72030	-0.4413	9	0.62326	D	0.03	-0.1898	17.0481	0.86510	0.0:0.0:1.0:0.0	.	245	A0PK05	TMM72_HUMAN	K	245;127	.	ENSP00000374234:E245K	E	+	1	0	TMEM72	44750493	0.996000	0.38824	0.998000	0.56505	0.892000	0.51952	3.770000	0.55310	2.707000	0.92482	0.655000	0.94253	GAG		PASS	0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		15	56	15	56	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49457087	49457087	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:49457087C>A	ENST00000374201.3	-	3	588	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	FRMPD2_ENST00000407470.4_Missense_Mutation_p.D87Y|FRMPD2_ENST00000305531.3_Missense_Mutation_p.D94Y	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	96	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.D96Y(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGCTGCTCATCCTCACTCTGT	0.567																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(286-288)GAT>TAT		FERM and PDZ domain containing 2 isoform 3							60.0	50.0	54.0					10																	49457087		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49457087C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.286G>T	10.37:g.49457087C>A	ENSP00000363317:p.Asp96Tyr					FRMPD2_uc001jgh.2_Missense_Mutation_p.D87Y|FRMPD2_uc001jgj.2_Missense_Mutation_p.D96Y	p.D96Y	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	3	393	-			96			KIND.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.286G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022483	0.35701	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.50001	0.76;1.55;1.55	5.47	2.23	0.28157	KIND (2);	.	.	.	.	T	0.48732	0.1516	L	0.54323	1.7	0.09310	N	1	D;P;D	0.54964	0.969;0.89;0.969	P;B;P	0.51135	0.66;0.264;0.66	T	0.37033	-0.9723	9	0.87932	D	0	.	5.5982	0.17339	0.0:0.6174:0.0:0.3826	.	94;96;87	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	Y	96;94;87	ENSP00000363317:D96Y;ENSP00000307079:D94Y;ENSP00000384339:D87Y	ENSP00000307079:D94Y	D	-	1	0	FRMPD2	49127093	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.527000	0.22987	0.698000	0.31739	0.655000	0.94253	GAT		PASS	0.567	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		5	39	5	39	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50820303	50820303	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:50820303G>T	ENST00000374115.3	+	1	1957	c.1517G>T	c.(1516-1518)gGc>gTc	p.G506V	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	506					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.G506V(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCTGTGTCTGGCCAGGACGGC	0.652																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1516-1518)GGC>GTC		vesicular acetylcholine transporter							54.0	61.0	59.0					10																	50820303		2203	4298	6501	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820303G>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1517G>T	10.37:g.50820303G>T	ENSP00000363229:p.Gly506Val					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.G506V	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1957	+			506			Cytoplasmic (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1517G>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257375	0.39896	.	.	ENSG00000187714	ENST00000374115	T	0.04551	3.6	4.42	0.839	0.18907	.	0.622965	0.15931	U	0.237697	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	0.999995	B	0.24823	0.112	B	0.16722	0.016	T	0.40213	-0.9575	10	0.44086	T	0.13	-5.1429	4.0172	0.09649	0.2302:0.0:0.5895:0.1803	.	506	Q16572	VACHT_HUMAN	V	506	ENSP00000363229:G506V	ENSP00000363229:G506V	G	+	2	0	SLC18A3	50490309	0.003000	0.15002	0.003000	0.11579	0.196000	0.23810	0.578000	0.23773	0.277000	0.22141	0.555000	0.69702	GGC		PASS	0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		5	29	5	29	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52595861	52595861	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:52595861C>A	ENST00000373993.1	-	4	621	c.577G>T	c.(577-579)Gcc>Tcc	p.A193S	A1CF_ENST00000395489.2_Missense_Mutation_p.A186S|A1CF_ENST00000374001.2_Missense_Mutation_p.A193S|A1CF_ENST00000373995.3_Missense_Mutation_p.A201S|A1CF_ENST00000395495.1_Missense_Mutation_p.A193S|A1CF_ENST00000373997.3_Missense_Mutation_p.A193S|A1CF_ENST00000282641.2_Missense_Mutation_p.A193S			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	193	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.A201S(1)|p.A193S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCGCCATGGCAGCTGCTCGA	0.498																																						uc001jjj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(577-579)GCC>TCC		apobec-1 complementation factor isoform 2							108.0	99.0	102.0					10																	52595861		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595861C>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.577G>T	10.37:g.52595861C>A	ENSP00000363105:p.Ala193Ser					A1CF_uc010qhn.1_Missense_Mutation_p.A201S|A1CF_uc001jji.2_Missense_Mutation_p.A193S|A1CF_uc001jjh.2_Missense_Mutation_p.A201S|A1CF_uc010qho.1_Missense_Mutation_p.A201S|A1CF_uc009xov.2_Missense_Mutation_p.A193S	p.A193S	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			6	765	-			193			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.577G>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682915	0.68157	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.66560	2.04	0.80722	D	1	B;B;D;B	0.65815	0.141;0.159;0.995;0.255	P;P;D;P	0.85130	0.577;0.766;0.997;0.739	T	0.02789	-1.1110	10	0.45353	T	0.12	-10.3251	18.0887	0.89466	0.0:1.0:0.0:0.0	.	186;193;193;201	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	S	193;193;193;201;193;193;176;186;193	ENSP00000363113:A193S;ENSP00000363105:A193S;ENSP00000363109:A193S;ENSP00000363107:A201S;ENSP00000282641:A193S;ENSP00000378873:A193S;ENSP00000378868:A186S;ENSP00000397953:A193S	ENSP00000282641:A193S	A	-	1	0	A1CF	52265867	1.000000	0.71417	0.972000	0.41901	0.427000	0.31564	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	GCC		PASS	0.498	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		5	63	5	63	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70161474	70161474	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:70161474A>T	ENST00000602465.1	-	3	299	c.199T>A	c.(199-201)Tac>Aac	p.Y67N	RUFY2_ENST00000399200.2_Missense_Mutation_p.Y67N|RUFY2_ENST00000454950.2_Missense_Mutation_p.Y9N|RUFY2_ENST00000342616.4_Missense_Mutation_p.Y67N|RUFY2_ENST00000388768.2_Missense_Mutation_p.Y102N|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	116						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Y102N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GTTTTGTTGTAACTCAAAAAT	0.373																																						uc001job.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)TAC>AAC		RUN and FYVE domain-containing 2 isoform a							72.0	75.0	74.0					10																	70161474		1823	4082	5905	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70161474A>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.199T>A	10.37:g.70161474A>T	ENSP00000473462:p.Tyr67Asn					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.Y67N|RUFY2_uc010qiw.1_Missense_Mutation_p.Y9N|RUFY2_uc001jod.1_Missense_Mutation_p.Y67N|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.Y67N	p.Y102N	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			3	631	-			116			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.304T>A		.	.	.	.	.	.	.	.	.	.	A	13.60	2.284613	0.40394	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950;ENST00000342616	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.19	4.06	0.47325	.	0.380239	0.30519	N	0.009441	T	0.12135	0.0295	L	0.29908	0.895	0.46376	D	0.999013	P;B;P;P;D	0.53151	0.611;0.063;0.557;0.828;0.958	B;B;B;B;P	0.51229	0.255;0.247;0.206;0.372;0.663	T	0.16129	-1.0413	10	0.21540	T	0.41	.	10.9649	0.47406	0.927:0.0:0.073:0.0	.	9;67;67;67;102	B4DFR0;Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.;.	N	102;67;9;67	ENSP00000373420:Y102N;ENSP00000382151:Y67N;ENSP00000404986:Y9N;ENSP00000341727:Y67N	ENSP00000341727:Y67N	Y	-	1	0	RUFY2	69831480	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.124000	0.71620	0.998000	0.38996	0.533000	0.62120	TAC		PASS	0.373	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		6	41	6	41	---	---	---	---
MICU1	10367	broad.mit.edu	37	10	74267937	74267937	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:74267937T>C	ENST00000361114.5	-	6	724	c.628A>G	c.(628-630)Att>Gtt	p.I210V	MICU1_ENST00000398761.4_Missense_Mutation_p.I212V|MICU1_ENST00000398763.4_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.I210V|MICU1_ENST00000418483.2_Intron	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	210					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.I212V(1)									GTGAGGAAAATGTAGTCTGAA	0.328																																						uc001jtb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(634-636)ATT>GTT		calcium binding atopy-related autoantigen 1							61.0	58.0	59.0					10																	74267937		1820	4088	5908	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74267937T>C	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.628A>G	10.37:g.74267937T>C	ENSP00000354415:p.Ile210Val					CBARA1_uc010qjw.1_5'UTR|CBARA1_uc010qjx.1_Intron|CBARA1_uc009xqo.1_RNA	p.I212V	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN			7	767	-			210					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.634A>G	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036436	0.54896	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	D;D;D	0.84944	-1.92;-1.92;-1.92	5.23	5.23	0.72850	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	L	0.33137	0.985	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	T	0.77373	-0.2612	10	0.36615	T	0.2	.	15.0724	0.72049	0.0:0.0:0.0:1.0	.	210	Q9BPX6	MICU1_HUMAN	V	210;212;210	ENSP00000354415:I210V;ENSP00000381745:I212V;ENSP00000384068:I210V	ENSP00000354415:I210V	I	-	1	0	MICU1	73937943	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.704000	0.84595	2.090000	0.63153	0.383000	0.25322	ATT		PASS	0.328	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		3	9	3	9	---	---	---	---
RPP30	10556	broad.mit.edu	37	10	92631758	92631758	+	Silent	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:92631758A>T	ENST00000371703.3	+	1	286	c.15A>T	c.(13-15)gcA>gcT	p.A5A	RPP30_ENST00000413330.1_Silent_p.A5A	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	5					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.A5A(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CGGTGTTTGCAGATTTGGACC	0.652																																						uc009xtx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(13-15)GCA>GCT		ribonuclease P/MRP 30kDa subunit isoform b							131.0	136.0	135.0					10																	92631758		2203	4300	6503	SO:0001819	synonymous_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92631758A>T	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.15A>T	10.37:g.92631758A>T						RPP30_uc001khd.2_Silent_p.A5A|RPP30_uc010qnj.1_Silent_p.A5A	p.A5A	NM_006413	NP_006404	P78346	RPP30_HUMAN			1	50	+			5					B2R799|E9PB02	Silent	SNP	ENST00000371703.3	37	c.15A>T	CCDS7411.1																																																																																				PASS	0.652	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		8	114	8	114	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108432656	108432656	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:108432656C>G	ENST00000263054.6	-	15	2035	c.2028G>C	c.(2026-2028)gaG>gaC	p.E676D	SORCS1_ENST00000369698.1_Missense_Mutation_p.E211D|SORCS1_ENST00000344440.6_Missense_Mutation_p.E676D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	676					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E676D(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTCTGTAGTCCTCTTCGGCAC	0.507																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2026-2028)GAG>GAC		SORCS receptor 1 isoform a							83.0	70.0	74.0					10																	108432656		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108432656C>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2028G>C	10.37:g.108432656C>G	ENSP00000263054:p.Glu676Asp					SORCS1_uc001kyl.2_Missense_Mutation_p.E676D|SORCS1_uc009xxs.2_Missense_Mutation_p.E676D|SORCS1_uc001kyn.1_Missense_Mutation_p.E676D|SORCS1_uc001kyo.2_Missense_Mutation_p.E676D	p.E676D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	15	2036	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	676			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2028G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418674	0.25552	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.29655	1.56;1.56;1.56	5.47	0.138	0.14793	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	N	0.03999	-0.3	0.33977	D	0.647532	B;B;B;B;B	0.12013	0.003;0.005;0.005;0.003;0.005	B;B;B;B;B	0.15870	0.006;0.014;0.014;0.006;0.014	T	0.14227	-1.0480	9	.	.	.	-25.0048	2.2549	0.04052	0.1223:0.3436:0.1205:0.4136	.	676;676;676;676;676	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	211;676;676	ENSP00000358712:E211D;ENSP00000263054:E676D;ENSP00000345964:E676D	.	E	-	3	2	SORCS1	108422646	0.044000	0.20184	1.000000	0.80357	0.992000	0.81027	-0.812000	0.04496	0.118000	0.18165	0.563000	0.77884	GAG		PASS	0.507	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	30	4	30	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127418024	127418024	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:127418024A>G	ENST00000356792.4	+	8	1224	c.992A>G	c.(991-993)tAc>tGc	p.Y331C	C10orf137_ENST00000337623.3_Missense_Mutation_p.Y297C	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Y297C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAGGCAGATACCCAGCAGTC	0.413																																						uc001liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(991-993)TAC>TGC		erythroid differentiation-related factor 1							89.0	88.0	88.0					10																	127418024		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127418024A>G																												ENST00000356792.4:c.992A>G	10.37:g.127418024A>G	ENSP00000349244:p.Tyr331Cys					C10orf137_uc001lin.2_Missense_Mutation_p.Y297C|C10orf137_uc001lio.1_Missense_Mutation_p.Y297C|C10orf137_uc001lip.1_Missense_Mutation_p.T30A	p.Y331C	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			8	1285	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	331					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.992A>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947536	0.73787	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.992;0.998;0.988	T	0.69989	-0.4995	9	0.46703	T	0.11	.	14.8814	0.70537	1.0:0.0:0.0:0.0	.	331;297;331	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	C	331;331;297	.	ENSP00000336727:Y297C	Y	+	2	0	C10orf137	127408014	1.000000	0.71417	0.797000	0.32132	0.994000	0.84299	8.761000	0.91691	2.095000	0.63458	0.533000	0.62120	TAC		PASS	0.413	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			5	62	5	62	---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133978215	133978215	+	Silent	SNP	A	A	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr10:133978215A>G	ENST00000298622.4	+	20	2598	c.2460A>G	c.(2458-2460)agA>agG	p.R820R	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	820						Golgi apparatus (GO:0005794)		p.R820R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTCAGAAGAGACAAATAAAGG	0.418																																						uc001lkx.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(2458-2460)AGA>AGG		Janus kinase and microtubule interacting protein							89.0	97.0	94.0					10																	133978215		2202	4298	6500	SO:0001819	synonymous_variant	282973							g.chr10:133978215A>G	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2460A>G	10.37:g.133978215A>G						JAKMIP3_uc009yba.1_Silent_p.R257R	p.R820R	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	20	2460	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.2460A>G	CCDS44494.1																																																																																				PASS	0.418	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		11	74	11	74	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862634	5862634	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:5862634A>T	ENST00000329322.5	-	1	493	c.494T>A	c.(493-495)cTc>cAc	p.L165H	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L169H	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L169H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAACCTTAAGAGGAGAAACAC	0.493																																						uc010qzq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)CTC>CAC		olfactory receptor, family 52, subfamily E,							160.0	149.0	153.0					11																	5862634		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862634A>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.494T>A	11.37:g.5862634A>T	ENSP00000328878:p.Leu165His					TRIM5_uc001mbq.1_Intron	p.L165H	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	494	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	165			Extracellular (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.494T>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	A	9.490	1.100314	0.20552	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00130	8.69;8.69	3.45	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	0.139707	0.32836	N	0.005584	T	0.00524	0.0017	M	0.93283	3.4	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.31558	-0.9939	10	0.87932	D	0	.	7.3087	0.26463	0.8896:0.0:0.1104:0.0	.	165	Q96RD3	O52E6_HUMAN	H	165;169	ENSP00000328878:L165H;ENSP00000369279:L169H	ENSP00000328878:L165H	L	-	2	0	OR52E6	5819210	0.002000	0.14202	0.001000	0.08648	0.125000	0.20455	0.896000	0.28377	0.419000	0.25927	0.450000	0.29827	CTC		PASS	0.493	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		25	128	25	128	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6245017	6245017	+	Silent	SNP	T	T	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:6245017T>A	ENST00000449352.2	-	3	863	c.600A>T	c.(598-600)ccA>ccT	p.P200P	FAM160A2_ENST00000524416.1_Silent_p.P200P|FAM160A2_ENST00000265978.4_Silent_p.P200P			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	200					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.P200P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTCAGGAGGTGGCTGCAGGA	0.602																																						uc001mcl.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(598-600)CCA>CCT		hypothetical protein LOC84067 isoform 2							76.0	84.0	81.0					11																	6245017		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245017T>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.600A>T	11.37:g.6245017T>A						FAM160A2_uc001mck.3_Silent_p.P200P|FAM160A2_uc001mcm.2_Silent_p.P200P	p.P200P	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			3	959	-			200					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.600A>T	CCDS44530.1																																																																																				PASS	0.602	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		14	74	14	74	---	---	---	---
WEE1	7465	broad.mit.edu	37	11	9608129	9608129	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:9608129C>A	ENST00000450114.2	+	9	1857	c.1604C>A	c.(1603-1605)cCa>cAa	p.P535Q	WEE1_ENST00000299613.6_Missense_Mutation_p.P321Q	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	535	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P535Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CCTCGGATACCACAAGTGCTT	0.413																																						uc001mhs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(1603-1605)CCA>CAA		WEE1 tyrosine kinase isoform 1							114.0	110.0	112.0					11																	9608129		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608129C>A	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1604C>A	11.37:g.9608129C>A	ENSP00000402084:p.Pro535Gln					WEE1_uc001mht.2_Missense_Mutation_p.P321Q	p.P535Q	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	9	1857	+			535			Protein kinase.		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1604C>A	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269275	0.95429	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712	T;T;T	0.76839	0.85;0.85;-1.05	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91579	0.5277	10	0.72032	D	0.01	-11.0554	20.452	0.99131	0.0:1.0:0.0:0.0	.	535	P30291	WEE1_HUMAN	Q	535;321;141	ENSP00000402084:P535Q;ENSP00000299613:P321Q;ENSP00000434148:P141Q	ENSP00000299613:P321Q	P	+	2	0	WEE1	9564705	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	7.104000	0.77024	2.838000	0.97847	0.591000	0.81541	CCA		PASS	0.413	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		5	83	5	83	---	---	---	---
SERGEF	26297	broad.mit.edu	37	11	18014479	18014479	+	Splice_Site	SNP	T	T	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:18014479T>G	ENST00000265965.5	-	7	835	c.684A>C	c.(682-684)acA>acC	p.T228T	SERGEF_ENST00000532265.1_Splice_Site_p.T114T|SERGEF_ENST00000528200.1_Splice_Site_p.T228T	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	228					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.T228T(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						GGTACCTACCTGTTAATGAAG	0.383																																						uc001mnm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(682-684)ACA>ACC		deafness locus associated putative guanine							120.0	106.0	111.0					11																	18014479		2200	4293	6493	SO:0001630	splice_region_variant	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18014479T>G	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.685+1A>C	11.37:g.18014479T>G						SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.T228T|SERGEF_uc010rcz.1_Silent_p.T114T|SERGEF_uc001mno.1_Silent_p.T114T	p.T228T	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN			7	764	-			228			RCC1 4.		Q9UGK9	Silent	SNP	ENST00000265965.5	37	c.684A>C	CCDS7828.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942864	0.34283	.	.	ENSG00000129158	ENST00000529151	.	.	.	5.19	2.81	0.32909	.	.	.	.	.	T	0.53674	0.1811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44159	-0.9346	4	.	.	.	-17.8917	5.2996	0.15770	0.1685:0.085:0.0:0.7465	.	.	.	.	P	92	.	.	Q	-	2	0	SERGEF	17971055	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.578000	0.36525	0.484000	0.27630	0.533000	0.62120	CAG		PASS	0.383	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	Silent	8	38	8	38	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30928154	30928154	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:30928154C>G	ENST00000597505.1	-	28	4036	c.4037G>C	c.(4036-4038)tGt>tCt	p.C1346S	DCDC1_ENST00000339794.5_Missense_Mutation_p.C425S|DCDC1_ENST00000406071.2_Missense_Mutation_p.C81S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.C425S(1)|p.C33S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCTGAAATACAGAGGAATGG	0.463																																						uc001mss.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							131.0	121.0	124.0					11																	30928154		2202	4299	6501	SO:0001583	missense	0							g.chr11:30928154C>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4037G>C	11.37:g.30928154C>G	ENSP00000472625:p.Cys1346Ser					uc009yjk.1_Missense_Mutation_p.C794S|uc009yjj.1_RNA								8		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1140G>C		.	.	.	.	.	.	.	.	.	.	C	15.41	2.826534	0.50739	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.75729	0.3889	M	0.71581	2.175	0.33667	D	0.610501	D	0.76494	0.999	D	0.80764	0.994	T	0.82386	-0.0483	9	0.87932	D	0	-14.0548	17.1154	0.86687	0.0:1.0:0.0:0.0	.	425	Q6ZRR9	DCDC5_HUMAN	S	81;425	.	ENSP00000341700:C425S	C	-	2	0	DCDC5	30884730	1.000000	0.71417	0.993000	0.49108	0.020000	0.10135	4.367000	0.59498	2.781000	0.95711	0.650000	0.86243	TGT		PASS	0.463	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		7	22	7	22	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33565038	33565038	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:33565038C>T	ENST00000321505.4	+	1	1218	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	KIAA1549L_ENST00000389726.3_Silent_p.G346G|KIAA1549L_ENST00000265654.5_Silent_p.G346G			Q6ZVL6	K154L_HUMAN	KIAA1549-like	346						integral component of membrane (GO:0016021)		p.G346G(2)									CATCTCTTGGCTTTTCCAGCA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mup.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1036-1038)GGC>GGT		hypothetical protein LOC25758							126.0	119.0	122.0					11																	33565038		1907	4135	6042	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33565038C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1038C>T	11.37:g.33565038C>T			OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Silent_p.G346G	p.G346G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	1162	+			346					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.1038C>T	CCDS44565.2																																																																																				PASS	0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		24	113	24	113	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55655543	55655543	+	Silent	SNP	T	T	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:55655543T>A	ENST00000449290.2	+	4	635	c.543T>A	c.(541-543)gcT>gcA	p.A181A	TRIM51_ENST00000244891.3_Silent_p.A38A	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A181A(1)|p.A22A(1)									CAATCAGAGCTGAATATCAGA	0.393																																						uc010rip.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(541-543)GCT>GCA		SPRY domain containing 5							25.0	26.0	25.0					11																	55655543		2199	4287	6486	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55655543T>A	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.543T>A	11.37:g.55655543T>A						SPRYD5_uc010riq.1_Silent_p.A38A	p.A181A	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	635	+		all_epithelial(135;0.226)	181					A6NMG2	Silent	SNP	ENST00000449290.2	37	c.543T>A																																																																																					PASS	0.393	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	28	5	28	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043875	56043875	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:56043875G>T	ENST00000313033.2	+	1	847	c.761G>T	c.(760-762)gGa>gTa	p.G254V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G254V(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTACATGTGGAGCTCACCTA	0.438																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(760-762)GGA>GTA		olfactory receptor, family 5, subfamily T,							242.0	210.0	221.0					11																	56043875		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043875G>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.761G>T	11.37:g.56043875G>T	ENSP00000323612:p.Gly254Val						p.G254V	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	761	+	Esophageal squamous(21;0.00448)		254			Helical; Name=6; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.761G>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	8.939	0.965431	0.18583	.	.	ENSG00000181698	ENST00000313033	T	0.35421	1.31	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.144445	0.31809	N	0.007034	T	0.47135	0.1429	L	0.35249	1.045	0.18873	N	0.999988	D	0.71674	0.998	D	0.74023	0.982	T	0.34527	-0.9825	10	0.62326	D	0.03	.	14.145	0.65344	0.0:0.0:1.0:0.0	.	254	Q8NG75	OR5T1_HUMAN	V	254	ENSP00000323612:G254V	ENSP00000323612:G254V	G	+	2	0	OR5T1	55800451	0.000000	0.05858	0.005000	0.12908	0.068000	0.16541	-0.147000	0.10234	1.953000	0.56701	0.465000	0.42564	GGA		PASS	0.438	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		12	140	12	140	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56344723	56344723	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:56344723G>C	ENST00000526812.2	-	1	540	c.475C>G	c.(475-477)Cag>Gag	p.Q159E		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGCAGTGTCTGAGAGAGCCCA	0.468																																						uc001niz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CAG>GAG		olfactory receptor, family 5, subfamily M,							150.0	145.0	147.0					11																	56344723		2015	4194	6209	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344723G>C	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.475C>G	11.37:g.56344723G>C	ENSP00000436004:p.Gln159Glu						p.Q159E	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	475	-			159			Helical; Name=4; (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.475C>G	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	7.346	0.621899	0.14193	.	.	ENSG00000254834	ENST00000526812	T	0.00076	8.76	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.21583	0.68	0.09310	N	1	B	0.21753	0.06	B	0.30495	0.116	T	0.51568	-0.8689	9	0.44086	T	0.13	.	15.3464	0.74340	0.0:0.0:1.0:0.0	.	159	Q6IEU7	OR5MA_HUMAN	E	159	ENSP00000436004:Q159E	ENSP00000436004:Q159E	Q	-	1	0	OR5M10	56101299	0.737000	0.28175	0.032000	0.17829	0.003000	0.03518	2.652000	0.46682	2.238000	0.73509	0.632000	0.83419	CAG		PASS	0.468	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		4	149	4	149	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892347	58892347	+	Silent	SNP	A	A	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:58892347A>G	ENST00000343597.3	+	4	968	c.777A>G	c.(775-777)gtA>gtG	p.V259V	FAM111B_ENST00000529618.1_Silent_p.V229V|FAM111B_ENST00000411426.1_Silent_p.V229V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	259							catalytic activity (GO:0003824)	p.V259V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGATGAAGTATCTGGAAAAG	0.338																																						uc001nnl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(775-777)GTA>GTG		hypothetical protein LOC374393 isoform a							50.0	52.0	51.0					11																	58892347		2195	4291	6486	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892347A>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.777A>G	11.37:g.58892347A>G						FAM111B_uc001nnm.2_Silent_p.V229V|FAM111B_uc010rko.1_Silent_p.V229V	p.V259V	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1020	+			259					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.777A>G	CCDS7972.1																																																																																				PASS	0.338	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		7	46	7	46	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70118486	70118486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:70118486G>T	ENST00000253925.7	+	2	423	c.208G>T	c.(208-210)Gag>Tag	p.E70*	PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.E70*	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	70					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.E70*(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAGTTACACGAGGTTGGTCA	0.458																																						uc001opo.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(1)	3						c.(208-210)GAG>TAG		PTPRF interacting protein alpha 1 isoform b							114.0	107.0	109.0					11																	70118486		2200	4294	6494	SO:0001587	stop_gained	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70118486G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.208G>T	11.37:g.70118486G>T	ENSP00000253925:p.Glu70*					PPFIA1_uc001opn.1_Nonsense_Mutation_p.E70*|PPFIA1_uc001opp.2_RNA	p.E70*	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		2	406	+			70			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Nonsense_Mutation	SNP	ENST00000253925.7	37	c.208G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	40	8.253614	0.98727	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746;ENST00000532024	.	.	.	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.3704	0.90405	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000253925:E70X	E	+	1	0	PPFIA1	69796134	1.000000	0.71417	0.917000	0.36280	0.961000	0.63080	7.596000	0.82721	2.328000	0.79073	0.638000	0.83543	GAG		PASS	0.458	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		5	99	5	99	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76171008	76171008	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:76171008G>T	ENST00000529032.1	+	5	450	c.450G>T	c.(448-450)acG>acT	p.T150T	C11orf30_ENST00000533248.1_Silent_p.T164T|C11orf30_ENST00000524767.1_Silent_p.T165T|C11orf30_ENST00000343878.3_Silent_p.T150T|C11orf30_ENST00000334736.3_Silent_p.T150T|C11orf30_ENST00000525038.1_Silent_p.T165T|C11orf30_ENST00000525919.1_Silent_p.T151T|C11orf30_ENST00000524490.1_Silent_p.T151T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	150	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T150T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAAGTACCACGTCAACCCCAA	0.443																																						uc001oxl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(448-450)ACG>ACT		EMSY protein							193.0	165.0	174.0					11																	76171008		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76171008G>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.450G>T	11.37:g.76171008G>T						C11orf30_uc001oxk.2_3'UTR|C11orf30_uc009yuj.1_Silent_p.T165T|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Silent_p.T151T|C11orf30_uc010rsb.1_Silent_p.T165T|C11orf30_uc010rsc.1_Silent_p.T165T|C11orf30_uc001oxn.2_Silent_p.T151T|C11orf30_uc010rsd.1_Silent_p.T164T	p.T150T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			6	593	+			150			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.450G>T	CCDS8244.1																																																																																				PASS	0.443	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		6	106	6	106	---	---	---	---
DDIAS	220042	broad.mit.edu	37	11	82644903	82644903	+	Silent	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:82644903T>C	ENST00000533655.1	+	6	2735	c.2523T>C	c.(2521-2523)ggT>ggC	p.G841G	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G841G|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G540G	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		841					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G841G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTGTATCTGGTGTTTCACAAC	0.403																																						uc001ozt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2521-2523)GGT>GGC		nitric oxide-inducible gene protein							53.0	52.0	52.0					11																	82644903		2203	4300	6503	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644903T>C																												ENST00000533655.1:c.2523T>C	11.37:g.82644903T>C						C11orf82_uc010rsr.1_Silent_p.G540G|C11orf82_uc010rss.1_Silent_p.G540G|C11orf82_uc009yvd.2_Intron	p.G841G	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	2767	+			841					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.2523T>C	CCDS8263.1																																																																																				PASS	0.403	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			6	54	6	54	---	---	---	---
CHORDC1	26973	broad.mit.edu	37	11	89935578	89935578	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:89935578C>G	ENST00000320585.6	-	11	1403	c.994G>C	c.(994-996)Gat>Cat	p.D332H	CHORDC1_ENST00000529987.1_Missense_Mutation_p.D144H|CHORDC1_ENST00000529726.1_Missense_Mutation_p.D144H|CHORDC1_ENST00000457199.2_Missense_Mutation_p.D313H	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	332					chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)	p.D332H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CCCACTCAATCTGTTGTGGCA	0.398																																						uc001pdg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(994-996)GAT>CAT		cysteine and histidine-rich domain-containing							122.0	102.0	109.0					11																	89935578		2200	4298	6498	SO:0001583	missense	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89935578C>G	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.994G>C	11.37:g.89935578C>G	ENSP00000319255:p.Asp332His					CHORDC1_uc009yvz.2_Missense_Mutation_p.D313H	p.D332H	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			11	1404	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	332					B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	c.994G>C	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522872	0.44866	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.47177	0.86;0.87;0.85;0.87	5.24	4.33	0.51752	.	0.906676	0.09517	N	0.791444	T	0.35128	0.0921	N	0.08118	0	0.80722	D	1	B;P	0.37955	0.226;0.612	B;B	0.43360	0.134;0.417	T	0.03112	-1.1071	9	.	.	.	.	12.2219	0.54439	0.0:0.9209:0.0:0.0791	.	313;332	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	H	332;144;313;144	ENSP00000319255:D332H;ENSP00000433719:D144H;ENSP00000401080:D313H;ENSP00000436632:D144H	.	D	-	1	0	CHORDC1	89575226	0.977000	0.34250	0.819000	0.32651	0.171000	0.22731	1.686000	0.37669	1.203000	0.43233	-0.145000	0.13849	GAT		PASS	0.398	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		4	28	4	28	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92495063	92495063	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:92495063C>A	ENST00000298047.6	+	4	3728	c.3711C>A	c.(3709-3711)acC>acA	p.T1237T	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Silent_p.T1087T|FAT3_ENST00000409404.2_Silent_p.T1237T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1237	Cadherin 11. {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.T1237T(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)				AACAGTCAACCATTTGGGTGG	0.438										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(3709-3711)ACC>ACA		FAT tumor suppressor homolog 3							191.0	182.0	185.0					11																	92495063		1904	4120	6024	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92495063C>A	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.3711C>A	11.37:g.92495063C>A		TCGA Ovarian(4;0.039)					p.T1237T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			4	3728	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1237			Cadherin 11.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.3711C>A																																																																																					PASS	0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	170	7	170	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534954	92534954	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:92534954G>T	ENST00000298047.6	+	9	8792	c.8775G>T	c.(8773-8775)gcG>gcT	p.A2925A	FAT3_ENST00000525166.1_Silent_p.A2775A|FAT3_ENST00000409404.2_Silent_p.A2925A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2925	Cadherin 27. {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.A2925A(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)				CAGTCTTCGCGCAGGAAGTGT	0.567										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8773-8775)GCG>GCT		FAT tumor suppressor homolog 3							99.0	97.0	98.0					11																	92534954		2021	4191	6212	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534954G>T	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.8775G>T	11.37:g.92534954G>T		TCGA Ovarian(4;0.039)					p.A2925A	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8792	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2925			Cadherin 27.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8775G>T																																																																																					PASS	0.567	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	79	4	79	---	---	---	---
GRAMD1B	57476	broad.mit.edu	37	11	123477373	123477373	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:123477373G>T	ENST00000529750.1	+	10	1278	c.951G>T	c.(949-951)aaG>aaT	p.K317N	GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K317N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K324N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	317						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K317N(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	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;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCCTGGAAAAGGAGCTCGCCA	0.562																																						uc001pyx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(949-951)AAG>AAT		GRAM domain containing 1B							52.0	56.0	54.0					11																	123477373		1975	4146	6121	SO:0001583	missense	57476					integral to membrane		g.chr11:123477373G>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.951G>T	11.37:g.123477373G>T	ENSP00000436500:p.Lys317Asn					GRAMD1B_uc001pyw.2_Missense_Mutation_p.K324N|GRAMD1B_uc010rzw.1_Missense_Mutation_p.K277N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.K277N|GRAMD1B_uc009zbe.1_Missense_Mutation_p.K313N|GRAMD1B_uc001pyy.2_5'Flank	p.K317N	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	10	1280	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	317					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.951G>T	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237505	0.39498	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.32515	1.86;1.87;1.87;1.86;1.45	5.25	4.3	0.51218	.	0.376195	0.30565	N	0.009352	T	0.21307	0.0513	N	0.22421	0.69	0.50171	D	0.999854	B;B;B;B	0.31125	0.309;0.278;0.309;0.183	B;B;B;B	0.34779	0.039;0.189;0.016;0.093	T	0.05835	-1.0861	10	0.33940	T	0.23	.	9.2004	0.37254	0.2031:0.0:0.7969:0.0	.	277;324;317;324	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	N	324;324;317;317;277;313	ENSP00000402457:K324N;ENSP00000325628:K317N;ENSP00000436500:K317N;ENSP00000432987:K277N;ENSP00000434214:K313N	ENSP00000325628:K317N	K	+	3	2	GRAMD1B	122982583	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.223000	0.32527	1.111000	0.41721	0.462000	0.41574	AAG		PASS	0.562	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		4	17	4	17	---	---	---	---
TMEM225	338661	broad.mit.edu	37	11	123754822	123754822	+	Missense_Mutation	SNP	C	C	T	rs185003678		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:123754822C>T	ENST00000375026.2	-	3	639	c.423G>A	c.(421-423)atG>atA	p.M141I		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	141					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.M141I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGCAGTATACATGATCCAGG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		16319	0.0		0.001	False		,,,				2504	0.0					uc001pzi.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						c.(421-423)ATG>ATA		transmembrane protein 225		C	ILE/MET	0,4404		0,0,2202	129.0	121.0	124.0		423	1.2	0.0	11		124	2,8596	2.2+/-6.3	0,2,4297	no	missense	TMEM225	NM_001013743.1	10	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign	141/226	123754822	2,13000	2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123754822C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.423G>A	11.37:g.123754822C>T	ENSP00000364166:p.Met141Ile						p.M141I	NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN			3	631	-			141			Helical; (Potential).			Missense_Mutation	SNP	ENST00000375026.2	37	c.423G>A	CCDS31697.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.124	-0.400774	0.04865	0.0	2.33E-4	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.68025	-0.3;-0.3	4.74	1.18	0.20946	.	3.160800	0.00829	N	0.001641	T	0.40222	0.1108	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43686	-0.9376	10	0.02654	T	1	3.8056	3.925	0.09259	0.602:0.1968:0.2013:0.0	.	141	Q6GV28	TM225_HUMAN	I	141;91	ENSP00000364166:M141I;ENSP00000431282:M91I	ENSP00000364166:M141I	M	-	3	0	TMEM225	123260032	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.473000	0.22132	0.030000	0.15379	-0.271000	0.10264	ATG		PASS	0.448	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		6	70	6	70	---	---	---	---
OR10G4	390264	broad.mit.edu	37	11	123887173	123887173	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr11:123887173G>T	ENST00000320891.4	+	1	892	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V298L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAAGAAAGCTGTGTTGAAACT	0.393																																						uc010sac.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(892-894)GTG>TTG		olfactory receptor, family 10, subfamily G,							74.0	70.0	71.0					11																	123887173		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887173G>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.892G>T	11.37:g.123887173G>T	ENSP00000325076:p.Val298Leu						p.V298L	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	892	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	298			Cytoplasmic (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.892G>T	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	2.157	-0.393094	0.04899	.	.	ENSG00000254737	ENST00000320891	T	0.32515	1.45	3.38	-2.41	0.06562	.	0.248027	0.21041	N	0.081178	T	0.06325	0.0163	N	0.01771	-0.73	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	10	0.02654	T	1	.	1.4765	0.02427	0.1415:0.4202:0.15:0.2883	.	298	Q8NGN3	O10G4_HUMAN	L	298	ENSP00000325076:V298L	ENSP00000325076:V298L	V	+	1	0	OR10G4	123392383	0.000000	0.05858	0.033000	0.17914	0.843000	0.47879	-2.513000	0.00957	-0.359000	0.08150	-0.367000	0.07326	GTG		PASS	0.393	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		10	52	10	52	---	---	---	---
GALNT8	26290	broad.mit.edu	37	12	4874599	4874599	+	Missense_Mutation	SNP	G	G	T	rs144271473		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:4874599G>T	ENST00000252318.2	+	10	1985	c.1648G>T	c.(1648-1650)Gcc>Tcc	p.A550S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	550	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A550S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GATTGCAGAGGCCAGTGCTAG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		15676	0.001		0.0	False		,,,				2504	0.0				Colon(108;631 1558 7270 20097 39846)	uc001qne.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1648-1650)GCC>TCC		polypeptide N-acetylgalactosaminyltransferase 8							92.0	88.0	90.0					12																	4874599		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874599G>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1648G>T	12.37:g.4874599G>T	ENSP00000252318:p.Ala550Ser						p.A550S	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			10	1740	+			550			Ricin B-type lectin.|Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1648G>T	CCDS8533.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	7.083|7.083	0.570588|0.570588	0.13560|0.13560	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.52983|.	0.64|.	4.04|4.04	-2.96|-2.96	0.05547|0.05547	Ricin B-related lectin (1);Ricin B lectin (3);|.	1.470720|.	0.03812|.	N|.	0.266094|.	T|T	0.31796|0.31796	0.0808|0.0808	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.32573|.	0.376|.	B|.	0.33960|.	0.173|.	T|T	0.32798|0.32798	-0.9893|-0.9893	10|5	0.37606|.	T|.	0.19|.	.|.	4.4727|4.4727	0.11720|0.11720	0.6154:0.0:0.2159:0.1687|0.6154:0.0:0.2159:0.1687	.|.	550|.	Q9NY28|.	GALT8_HUMAN|.	S|S	550|66;45	ENSP00000252318:A550S|.	ENSP00000252318:A550S|.	A|R	+|+	1|3	0|2	GALNT8|GALNT8	4744860|4744860	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.047000|0.047000	0.14425|0.14425	-0.406000|-0.406000	0.07187|0.07187	-0.747000|-0.747000	0.04759|0.04759	-0.150000|-0.150000	0.13652|0.13652	GCC|AGG		PASS	0.458	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		6	41	6	41	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7647710	7647710	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:7647710C>T	ENST00000359156.4	-	6	1589	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	CD163_ENST00000432237.2_Missense_Mutation_p.D463N|CD163_ENST00000541972.1_Missense_Mutation_p.D451N|CD163_ENST00000396620.3_Missense_Mutation_p.D463N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	463	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D463N(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCATAGTGATCACAGGTAAGT	0.398																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1387-1389)GAT>AAT		CD163 antigen isoform a							200.0	185.0	190.0					12																	7647710		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647710C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1387G>A	12.37:g.7647710C>T	ENSP00000352071:p.Asp463Asn					CD163_uc001qta.3_Missense_Mutation_p.D463N|CD163_uc009zfw.2_Missense_Mutation_p.D463N	p.D463N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			6	1515	-			463			SRCR 4.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1387G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	3.438	-0.114675	0.06881	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.81	1.96	0.26148	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.919136	0.09276	N	0.824488	T	0.12178	0.0296	N	0.11341	0.13	0.23386	N	0.99778	P;B;P	0.44344	0.833;0.002;0.551	B;B;B	0.34590	0.186;0.005;0.14	T	0.09862	-1.0655	10	0.15952	T	0.53	.	5.4036	0.16308	0.0:0.506:0.3205:0.1735	.	463;463;463	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	N	463;451;463;463	ENSP00000352071:D463N;ENSP00000444071:D451N;ENSP00000379863:D463N;ENSP00000403885:D463N	ENSP00000352071:D463N	D	-	1	0	CD163	7538977	0.000000	0.05858	0.495000	0.27527	0.198000	0.23893	-0.637000	0.05459	0.332000	0.23536	-0.142000	0.14014	GAT		PASS	0.398	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		16	98	16	98	---	---	---	---
CMAS	55907	broad.mit.edu	37	12	22218072	22218072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:22218072G>T	ENST00000229329.2	+	8	1262	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	378					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.E378*(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGTGTCTGATGAAGAGTGCTT	0.423																																						uc001rfm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1132-1134)GAA>TAA		cytidine monophospho-N-acetylneuraminic acid							177.0	185.0	182.0					12																	22218072		2203	4300	6503	SO:0001587	stop_gained	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22218072G>T	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.1132G>T	12.37:g.22218072G>T	ENSP00000229329:p.Glu378*					CMAS_uc001rfn.2_RNA	p.E378*	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN			8	1211	+			378					Q96AX5|Q9NQZ0	Nonsense_Mutation	SNP	ENST00000229329.2	37	c.1132G>T	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	38	6.795135	0.97845	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.53	5.53	0.82687	.	0.118201	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-21.2973	17.6243	0.88090	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000229329:E378X	E	+	1	0	CMAS	22109339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.227000	0.78070	2.580000	0.87095	0.557000	0.71058	GAA		PASS	0.423	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		16	113	16	113	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40114794	40114794	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:40114794C>A	ENST00000324616.5	+	13	1854	c.1700C>A	c.(1699-1701)cCa>cAa	p.P567Q		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	567								p.P567Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GATCAGTTTCCACAGTTGCAG	0.388																																						uc001rmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1699-1701)CCA>CAA		hypothetical protein LOC283461							87.0	82.0	83.0					12																	40114794		1878	4124	6002	SO:0001583	missense	283461							g.chr12:40114794C>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1700C>A	12.37:g.40114794C>A	ENSP00000317671:p.Pro567Gln					C12orf40_uc009zjv.1_Intron	p.P567Q	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			13	1867	+			567					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1700C>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447088	0.25987	.	.	ENSG00000180116	ENST00000324616	T	0.49432	0.78	4.95	1.75	0.24633	.	1.397590	0.04460	N	0.374312	T	0.34308	0.0893	L	0.27053	0.805	0.09310	N	1	P	0.40794	0.729	B	0.39419	0.299	T	0.27806	-1.0063	10	0.44086	T	0.13	.	3.2212	0.06716	0.178:0.5527:0.1729:0.0964	.	567	Q86WS4	CL040_HUMAN	Q	567	ENSP00000317671:P567Q	ENSP00000317671:P567Q	P	+	2	0	C12orf40	38401061	0.000000	0.05858	0.040000	0.18447	0.020000	0.10135	-0.362000	0.07602	0.709000	0.31976	0.585000	0.79938	CCA		PASS	0.388	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		6	61	6	61	---	---	---	---
GXYLT1	283464	broad.mit.edu	37	12	42512879	42512879	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:42512879C>G	ENST00000398675.3	-	3	641	c.409G>C	c.(409-411)Gct>Cct	p.A137P	GXYLT1_ENST00000280876.6_Missense_Mutation_p.A106P	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	137					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.A137P(1)|p.A106P(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AAAATGATAGCTGACTTCAAC	0.373																																						uc001rms.3																			2	Substitution - Missense(2)		lung(2)		0						c.(409-411)GCT>CCT		glycosyltransferase 8 domain containing 3							99.0	92.0	94.0					12																	42512879		1934	4133	6067	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42512879C>G	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.409G>C	12.37:g.42512879C>G	ENSP00000381666:p.Ala137Pro					GXYLT1_uc001rmt.3_Missense_Mutation_p.A106P	p.A137P	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN			3	634	-			137			Lumenal (Potential).		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.409G>C	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090976	0.94149	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.24723	1.84;1.84	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68953	-0.5273	10	0.72032	D	0.01	0.5524	19.6342	0.95722	0.0:1.0:0.0:0.0	.	106;137	Q4G148-2;Q4G148	.;GXLT1_HUMAN	P	137;106	ENSP00000381666:A137P;ENSP00000280876:A106P	ENSP00000280876:A106P	A	-	1	0	GXYLT1	40799146	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	7.414000	0.80117	2.653000	0.90120	0.591000	0.81541	GCT		PASS	0.373	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		4	66	4	66	---	---	---	---
BIN2	51411	broad.mit.edu	37	12	51696919	51696919	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:51696919C>A	ENST00000267012.4	-	3	230	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	BIN2_ENST00000452142.2_Missense_Mutation_p.G57C|BIN2_ENST00000604560.1_Missense_Mutation_p.G30C|BIN2_ENST00000544402.1_Missense_Mutation_p.G31C	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	57	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.G57C(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGCTTGTGGCCTTCTGCCTGA	0.418																																						uc001ryg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GGC>TGC		bridging integrator 2							118.0	109.0	112.0					12																	51696919		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51696919C>A	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.169G>T	12.37:g.51696919C>A	ENSP00000267012:p.Gly57Cys					BIN2_uc009zlz.2_Missense_Mutation_p.G57C|BIN2_uc001ryh.2_Translation_Start_Site|BIN2_uc010sng.1_Missense_Mutation_p.G31C	p.G57C	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			3	221	-			57			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.169G>T	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295568	0.81025	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.63255	-0.03;-0.03;-0.03	4.74	4.74	0.60224	BAR (3);	0.068472	0.56097	D	0.000027	T	0.75376	0.3841	L	0.58354	1.805	0.51767	D	0.999933	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.75923	-0.3146	10	0.51188	T	0.08	-9.6068	15.5023	0.75709	0.0:1.0:0.0:0.0	.	31;57;57	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	C	57;57;31	ENSP00000410217:G57C;ENSP00000267012:G57C;ENSP00000445874:G31C	ENSP00000267012:G57C	G	-	1	0	BIN2	49983186	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.207000	0.72159	2.581000	0.87130	0.650000	0.86243	GGC		PASS	0.418	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			5	44	5	44	---	---	---	---
ACVR1B	91	broad.mit.edu	37	12	52380615	52380615	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:52380615G>C	ENST00000257963.4	+	7	1227	c.1150G>C	c.(1150-1152)Gaa>Caa	p.E384Q	ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.E425Q|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Missense_Mutation_p.E384Q|ACVR1B_ENST00000542485.1_Missense_Mutation_p.E332Q|ACVR1B_ENST00000426655.2_Missense_Mutation_p.E384Q	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.E384Q(1)|p.E425Q(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CATGGCCCCTGAAGTACTTGA	0.393																																						uc001rzn.2																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(1150-1152)GAA>CAA		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						106.0	105.0	105.0					12																	52380615		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380615G>C		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1150G>C	12.37:g.52380615G>C	ENSP00000257963:p.Glu384Gln					ACVR1B_uc001rzl.2_Missense_Mutation_p.E384Q|ACVR1B_uc001rzm.2_Missense_Mutation_p.E384Q|ACVR1B_uc010snn.1_Missense_Mutation_p.E425Q	p.E384Q	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1192	+			384			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1150G>C	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747502	0.89663	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.89917	0.997;0.998;1.0;1.0	D;D;D;D	0.91635	0.981;0.995;0.998;0.999	D	0.98185	1.0459	10	0.87932	D	0	.	18.6969	0.91604	0.0:0.0:1.0:0.0	.	425;384;384;384	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	Q	384;425;384;384;332	ENSP00000257963:E384Q;ENSP00000442656:E425Q;ENSP00000390477:E384Q;ENSP00000397550:E384Q;ENSP00000442885:E332Q	ENSP00000257963:E384Q	E	+	1	0	ACVR1B	50666882	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	9.657000	0.98554	2.737000	0.93849	0.563000	0.77884	GAA		PASS	0.393	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		10	67	10	67	---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52841120	52841120	+	Missense_Mutation	SNP	A	A	T	rs200055232	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:52841120A>T	ENST00000252252.3	-	9	1596	c.1549T>A	c.(1549-1551)Tat>Aat	p.Y517N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	517	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.Y517N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCACTGCCATAGGAGTAGCTG	0.632																																						uc001sak.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1549-1551)TAT>AAT		keratin 6B							61.0	62.0	62.0					12																	52841120		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841120A>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1549T>A	12.37:g.52841120A>T	ENSP00000252252:p.Tyr517Asn						p.Y517N	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	9	1597	-			517			Tail.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1549T>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.485612	0.26686	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.85773	-2.03	3.06	3.06	0.35304	.	0.000000	0.43260	D	0.000583	T	0.75700	0.3885	L	0.59436	1.845	0.31185	N	0.701581	P	0.44578	0.838	B	0.32864	0.154	T	0.74904	-0.3505	10	0.28530	T	0.3	.	8.036	0.30493	0.7936:0.2064:0.0:0.0	.	517	P04259	K2C6B_HUMAN	N	517;477	ENSP00000252252:Y517N	ENSP00000252252:Y517N	Y	-	1	0	KRT6B	51127387	0.003000	0.15002	0.761000	0.31378	0.746000	0.42486	1.448000	0.35112	1.415000	0.47037	0.260000	0.18958	TAT		PASS	0.632	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		5	35	5	35	---	---	---	---
HOXC5	3222	broad.mit.edu	37	12	54428081	54428081	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:54428081C>A	ENST00000312492.2	+	2	744	c.474C>A	c.(472-474)tcC>tcA	p.S158S	HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Silent_p.S62S|RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	158					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S158S(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GCAAGCGGTCCCGAACCAGTT	0.597																																						uc001sew.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)TCC>TCA		homeobox C5							84.0	93.0	90.0					12																	54428081		2203	4300	6503	SO:0001819	synonymous_variant	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54428081C>A		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.474C>A	12.37:g.54428081C>A						HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	p.S158S	NM_018953	NP_061826	Q00444	HXC5_HUMAN			2	549	+			158			Homeobox.			Silent	SNP	ENST00000312492.2	37	c.474C>A	CCDS8872.1																																																																																				PASS	0.597	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1			7	116	7	116	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54925091	54925091	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:54925091C>A	ENST00000293373.6	+	23	2633	c.2554C>A	c.(2554-2556)Ctg>Atg	p.L852M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L802M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	852					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.L852M(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGAAGTTCCTGAGTGAAAA	0.512																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2554-2556)CTG>ATG		NCK-associated protein 1-like							165.0	172.0	169.0					12																	54925091		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925091C>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2554C>A	12.37:g.54925091C>A	ENSP00000293373:p.Leu852Met					NCKAP1L_uc010sox.1_Missense_Mutation_p.L394M|NCKAP1L_uc010soy.1_Missense_Mutation_p.L802M	p.L852M	NM_005337	NP_005328	P55160	NCKPL_HUMAN			23	2633	+			852					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2554C>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001877	0.54254	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.49720	0.77;0.77	4.81	3.92	0.45320	.	0.000000	0.64402	D	0.000008	T	0.55752	0.1940	L	0.47190	1.495	0.44380	D	0.997286	D	0.76494	0.999	D	0.91635	0.999	T	0.52756	-0.8533	10	0.34782	T	0.22	-9.0262	7.2023	0.25887	0.0:0.8058:0.0:0.1942	.	852	P55160	NCKPL_HUMAN	M	852;802	ENSP00000293373:L852M;ENSP00000445596:L802M	ENSP00000293373:L852M	L	+	1	2	NCKAP1L	53211358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.459000	0.45023	1.395000	0.46643	0.561000	0.74099	CTG		PASS	0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	146	6	146	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72425388	72425388	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:72425388T>A	ENST00000333850.3	+	11	1527	c.1386T>A	c.(1384-1386)agT>agA	p.S462R		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	462					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.S462R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACACCAGAAGTATTGAAAATG	0.408																																						uc009zrw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1384-1386)AGT>AGA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						147.0	141.0	143.0					12																	72425388		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425388T>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1386T>A	12.37:g.72425388T>A	ENSP00000329093:p.Ser462Arg					TPH2_uc001swy.2_Missense_Mutation_p.S372R	p.S462R	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			11	1527	+			462					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1386T>A	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053915	0.36277	.	.	ENSG00000139287	ENST00000333850	D	0.99527	-6.09	5.82	2.15	0.27550	Aromatic amino acid hydroxylase, C-terminal (3);	0.045192	0.85682	D	0.000000	D	0.97433	0.9160	L	0.31804	0.96	0.80722	D	1	B	0.17038	0.02	B	0.27608	0.081	D	0.94679	0.7863	10	0.31617	T	0.26	-19.6676	9.9246	0.41485	0.0:0.1955:0.0:0.8045	.	462	Q8IWU9	TPH2_HUMAN	R	462	ENSP00000329093:S462R	ENSP00000329093:S462R	S	+	3	2	TPH2	70711655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.563000	0.36364	0.481000	0.27557	-0.333000	0.08304	AGT		PASS	0.408	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		14	57	14	57	---	---	---	---
METTL25	84190	broad.mit.edu	37	12	82780723	82780723	+	Missense_Mutation	SNP	G	G	T	rs149436881	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:82780723G>T	ENST00000248306.3	+	2	470	c.401G>T	c.(400-402)cGa>cTa	p.R134L	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	134							methyltransferase activity (GO:0008168)	p.R134L(1)									GTAGCCCTTCGAGGAAATCAA	0.373																																						uc001szq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CGA>CTA		hypothetical protein LOC84190							122.0	123.0	122.0					12																	82780723		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82780723G>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.401G>T	12.37:g.82780723G>T	ENSP00000248306:p.Arg134Leu						p.R134L	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			2	422	+			134					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.401G>T	CCDS9024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.05|11.05	1.524450|1.524450	0.27299|0.27299	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000550058|ENST00000248306;ENST00000548200	.|T	.|0.31769	.|1.48	5.84|5.84	-10.3|-10.3	0.00346|0.00346	.|.	.|1.790790	.|0.02389	.|N	.|0.079531	.|T	.|0.26521	.|0.0648	M|M	0.62723|0.62723	1.935|1.935	0.22050|0.22050	N|N	0.999395|0.999395	.|B	.|0.20164	.|0.042	.|B	.|0.18561	.|0.022	.|T	.|0.06144	.|-1.0843	.|10	.|0.25751	.|T	.|0.34	5.2643|5.2643	9.7723|9.7723	0.40598|0.40598	0.457:0.0:0.452:0.091|0.457:0.0:0.452:0.091	.|.	.|134	.|Q8N6Q8	.|CL026_HUMAN	X|L	93|134	.|ENSP00000248306:R134L	.|ENSP00000248306:R134L	E|R	+|+	1|2	0|0	C12orf26|C12orf26	81304854|81304854	0.018000|0.018000	0.18449|0.18449	0.377000|0.377000	0.26055|0.26055	0.045000|0.045000	0.14185|0.14185	-0.922000|-0.922000	0.04004|0.04004	-1.991000|-1.991000	0.00976|0.00976	-1.844000|-1.844000	0.00574|0.00574	GAG|CGA		PASS	0.373	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		4	80	4	80	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104179133	104179133	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:104179133C>A	ENST00000392876.3	-	12	1349	c.1309G>T	c.(1309-1311)Ggc>Tgc	p.G437C		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	437						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.G362C(1)|p.G437C(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCCAATAAGCCAGTCAAGGTC	0.408																																						uc010swe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1309-1311)GGC>TGC		5'-nucleotidase domain containing 3							222.0	190.0	201.0					12																	104179133		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104179133C>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1309G>T	12.37:g.104179133C>A	ENSP00000376615:p.Gly437Cys						p.G437C	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			12	1350	-			437					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1309G>T	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658722	0.88154	.	.	ENSG00000111696	ENST00000392876	T	0.25579	1.79	5.46	5.46	0.80206	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.48636	-0.9018	10	0.54805	T	0.06	-22.0585	19.3059	0.94163	0.0:1.0:0.0:0.0	.	437	Q86UY8	NT5D3_HUMAN	C	437	ENSP00000376615:G437C	ENSP00000376615:G437C	G	-	1	0	NT5DC3	102703263	1.000000	0.71417	0.354000	0.25760	0.981000	0.71138	5.994000	0.70623	2.559000	0.86315	0.655000	0.94253	GGC		PASS	0.408	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		11	89	11	89	---	---	---	---
ALDH1L2	160428	broad.mit.edu	37	12	105420472	105420472	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:105420472G>T	ENST00000258494.9	-	22	2707	c.2567C>A	c.(2566-2568)gCc>gAc	p.A856D	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	856	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.A856D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AACCCCTGAGGCCAAACCATA	0.373																																						uc001tlc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2566-2568)GCC>GAC		aldehyde dehydrogenase 1 family, member L2							197.0	189.0	192.0					12																	105420472		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105420472G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2567C>A	12.37:g.105420472G>T	ENSP00000258494:p.Ala856Asp					ALDH1L2_uc009zuo.2_Missense_Mutation_p.A311D|ALDH1L2_uc009zup.2_RNA	p.A856D	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			22	2694	-			856			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2567C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172097	0.94807	.	.	ENSG00000136010	ENST00000258494	T	0.19105	2.17	5.17	5.17	0.71159	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73726	-0.3892	10	0.87932	D	0	.	18.6513	0.91431	0.0:0.0:1.0:0.0	.	856	Q3SY69	AL1L2_HUMAN	D	856	ENSP00000258494:A856D	ENSP00000258494:A856D	A	-	2	0	ALDH1L2	103944602	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.848000	0.99507	2.391000	0.81399	0.557000	0.71058	GCC		PASS	0.373	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		5	89	5	89	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112481017	112481017	+	Splice_Site	SNP	T	T	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:112481017T>A	ENST00000261745.4	-	19	2499		c.e19-2			NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit							cytoplasm (GO:0005737)		p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GAAAGGATACTGGAAAAAAGG	0.358																																						uc001ttm.2																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.e19-1		mitochondrial distribution and morphology 20							62.0	62.0	62.0					12																	112481017		2203	4300	6503	SO:0001630	splice_region_variant	80018					cytoplasm	protein binding	g.chr12:112481017T>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2251-2A>T	12.37:g.112481017T>A						NAA25_uc001ttn.3_Splice_Site|NAA25_uc009zvz.1_Splice_Site_p.Y723_splice|NAA25_uc009zwa.1_Splice_Site_p.Y751_splice	p.Y751_splice	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			19	2271	-								A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Splice_Site	SNP	ENST00000261745.4	37	c.2251_splice	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699698	0.68501	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5151	0.67814	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAA25	110965400	1.000000	0.71417	0.979000	0.43373	0.784000	0.44337	6.897000	0.75671	2.170000	0.68504	0.379000	0.24179	.		PASS	0.358	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	Intron	9	61	9	61	---	---	---	---
VSIG10	54621	broad.mit.edu	37	12	118533522	118533522	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:118533522G>T	ENST00000359236.5	-	2	453	c.177C>A	c.(175-177)aaC>aaA	p.N59K	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	59	Ig-like C2-type 1.					integral component of membrane (GO:0016021)		p.N59K(1)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTCCGAGTTGTTCCGGTACC	0.557																																						uc001tws.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)AAC>AAA		V-set and immunoglobulin domain containing 10							70.0	81.0	78.0					12																	118533522		2123	4249	6372	SO:0001583	missense	54621					integral to membrane		g.chr12:118533522G>T		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.177C>A	12.37:g.118533522G>T	ENSP00000352172:p.Asn59Lys						p.N59K	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			2	511	-			59			Ig-like C2-type 1.|Extracellular (Potential).		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.177C>A	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853681	0.32791	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.63913	-0.07;-0.07	4.99	-5.68	0.02436	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.291831	0.24730	N	0.036075	T	0.53514	0.1801	L	0.41710	1.295	0.09310	N	1	D	0.58970	0.984	P	0.57679	0.825	T	0.51733	-0.8668	10	0.34782	T	0.22	-4.3838	4.1271	0.10133	0.5346:0.0989:0.2678:0.0987	.	59	Q8N0Z9	VSI10_HUMAN	K	59	ENSP00000352172:N59K;ENSP00000442861:N59K	ENSP00000352172:N59K	N	-	3	2	VSIG10	117017905	0.000000	0.05858	0.248000	0.24265	0.112000	0.19704	-1.241000	0.02911	-1.050000	0.03230	-0.123000	0.14984	AAC		PASS	0.557	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		3	32	3	32	---	---	---	---
C12orf43	64897	broad.mit.edu	37	12	121448635	121448636	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr12:121448635_121448636CC>AA	ENST00000288757.3	-	3	304_305	c.282_283GG>TT	c.(280-285)ctGGac>ctTTac	p.D95Y	C12orf43_ENST00000366211.2_Missense_Mutation_p.D53Y|C12orf43_ENST00000536407.2_Missense_Mutation_p.D95Y|C12orf43_ENST00000539736.1_Missense_Mutation_p.D95Y|C12orf43_ENST00000445832.3_Missense_Mutation_p.D65Y|C12orf43_ENST00000537817.1_Missense_Mutation_p.D96Y	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	95								p.D95Y(2)|p.L94L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTTACCTGTCCAGCAGGGCTC	0.54																																						uc001tzh.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(283-285)GAC>TAC|c.(280-282)CTG>CTT		hypothetical protein LOC64897																																				SO:0001583	missense	64897							g.chr12:121448635C>A|g.chr12:121448636C>A	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.282_283delinsAA	12.37:g.121448635_121448636delinsAA	ENSP00000288757:p.Asp95Tyr					C12orf43_uc009zxa.1_Missense_Mutation_p.D126Y|C12orf43_uc010szo.1_Missense_Mutation_p.D53Y|C12orf43_uc010szp.1_Missense_Mutation_p.D95Y|C12orf43_uc001tzi.1_Missense_Mutation_p.D95Y|C12orf43_uc009zxa.1_Silent_p.L125L|C12orf43_uc010szo.1_Silent_p.L52L|C12orf43_uc010szp.1_Silent_p.L94L|C12orf43_uc001tzi.1_Silent_p.L94L	p.D95Y|p.L94L	NM_022895	NP_075046	Q96C57	CL043_HUMAN			3	306|305	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		95|94					Q53HF0|Q9H9Z7	Missense_Mutation|Silent	SNP	ENST00000288757.3	37	c.283G>T|c.282G>T	CCDS9210.1																																																																																				PASS	0.540	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		5|6	42|41	5	41	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35770415	35770415	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr13:35770415C>A	ENST00000400445.3	+	31	5876	c.5342C>A	c.(5341-5343)cCt>cAt	p.P1781H	NBEA_ENST00000310336.4_Missense_Mutation_p.P1781H|NBEA_ENST00000540320.1_Missense_Mutation_p.P1781H|NBEA_ENST00000379939.2_Missense_Mutation_p.P1778H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1781					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.P1781H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTATTCTTCCTATGCAGTTT	0.368																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(5341-5343)CCT>CAT		neurobeachin							58.0	56.0	56.0					13																	35770415		1866	4092	5958	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35770415C>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5342C>A	13.37:g.35770415C>A	ENSP00000383295:p.Pro1781His					NBEA_uc010abi.2_Missense_Mutation_p.P437H	p.P1781H	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5548	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1781					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5342C>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564861	0.86439	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.66979	0.85;0.948	T	0.70799	-0.4774	10	0.59425	D	0.04	.	20.0979	0.97857	0.0:1.0:0.0:0.0	.	1781;1778	Q8NFP9;Q5T321	NBEA_HUMAN;.	H	1781;1781;1778;1781;408	ENSP00000440951:P1781H;ENSP00000383295:P1781H;ENSP00000369271:P1778H;ENSP00000308534:P1781H	ENSP00000308534:P1781H	P	+	2	0	NBEA	34668415	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.294000	0.78760	2.767000	0.95098	0.585000	0.79938	CCT		PASS	0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		5	59	5	59	---	---	---	---
PSMC6	5706	broad.mit.edu	37	14	53185722	53185722	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:53185722C>T	ENST00000606149.1	+	10	759	c.743C>T	c.(742-744)tCa>tTa	p.S248L	PSMC6_ENST00000445930.2_Missense_Mutation_p.S262L	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)	p.S262L(1)|p.S248L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAGGGTACTTCAGCTGACAGA	0.348																																						uc010tqx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(784-786)TCA>TTA		proteasome 26S ATPase subunit 6							116.0	116.0	116.0					14																	53185722		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53185722C>T		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.743C>T	14.37:g.53185722C>T	ENSP00000475721:p.Ser248Leu					PSMC6_uc001wzy.2_5'Flank	p.S262L	NM_002806	NP_002797	P62333	PRS10_HUMAN			10	785	+	Breast(41;0.176)		248					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.785C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.464374	0.96257	.	.	ENSG00000100519	ENST00000445930	D	0.95238	-3.65	4.85	4.85	0.62838	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	L	0.39898	1.24	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.96541	0.9400	10	0.87932	D	0	.	18.3437	0.90314	0.0:1.0:0.0:0.0	.	248	P62333	PRS10_HUMAN	L	262	ENSP00000401802:S262L	ENSP00000401802:S262L	S	+	2	0	PSMC6	52255472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.391000	0.81399	0.585000	0.79938	TCA		PASS	0.348	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		5	71	5	71	---	---	---	---
PLEK2	26499	broad.mit.edu	37	14	67854081	67854081	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:67854081C>T	ENST00000216446.4	-	9	1167	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	343	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A343fs*7(1)|p.A343T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		ATCCACTCGGCTCGCTCAGCC	0.488																																						uc001xjh.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|breast(1)	ovary(1)|pancreas(1)	2						c.(1027-1029)GCC>ACC		pleckstrin 2							219.0	190.0	200.0					14																	67854081		2203	4300	6503	SO:0001583	missense	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67854081C>T	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.1027G>A	14.37:g.67854081C>T	ENSP00000216446:p.Ala343Thr						p.A343T	NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	9	1079	-			343			PH 2.		Q96JT0	Missense_Mutation	SNP	ENST00000216446.4	37	c.1027G>A	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.151509	0.01700	.	.	ENSG00000100558	ENST00000216446	T	0.75367	-0.93	5.85	1.9	0.25705	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.424494	0.28236	N	0.016089	T	0.44329	0.1288	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20638	-1.0269	10	0.15952	T	0.53	-8.5706	4.7764	0.13182	0.4007:0.3971:0.0:0.2021	.	343	Q9NYT0	PLEK2_HUMAN	T	343	ENSP00000216446:A343T	ENSP00000216446:A343T	A	-	1	0	PLEK2	66923834	0.014000	0.17966	0.027000	0.17364	0.236000	0.25371	0.063000	0.14410	0.349000	0.23975	0.655000	0.94253	GCC		PASS	0.488	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			5	79	5	79	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73577735	73577735	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:73577735G>T	ENST00000261973.7	+	15	2174	c.1889G>T	c.(1888-1890)aGt>aTt	p.S630I	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.S630I	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	630	Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S630I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCTCTGCCAGTGGCAATGCA	0.502																																						uc001xno.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(1888-1890)AGT>ATT		RNA binding motif protein 25							97.0	84.0	88.0					14																	73577735		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73577735G>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1889G>T	14.37:g.73577735G>T	ENSP00000261973:p.Ser630Ile					RBM25_uc010ttu.1_Missense_Mutation_p.S630I|RBM25_uc001xnp.2_Missense_Mutation_p.S425I	p.S630I	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	15	2097	+			630			Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1889G>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352044	0.82132	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.13538	2.58;2.58	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	P	0.53689	0.732	T	0.00577	-1.1662	10	0.51188	T	0.08	.	19.2568	0.93949	0.0:0.0:1.0:0.0	.	630	P49756	RBM25_HUMAN	I	630	ENSP00000261973:S630I;ENSP00000431150:S630I	ENSP00000261973:S630I	S	+	2	0	RBM25	72647488	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.476000	0.97823	2.554000	0.86153	0.467000	0.42956	AGT		PASS	0.502	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		4	30	4	30	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75269258	75269258	+	Splice_Site	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:75269258G>A	ENST00000552421.1	+	5	2406		c.e5-1		YLPM1_ENST00000325680.7_Splice_Site|YLPM1_ENST00000238571.3_Splice_Site			P49750	YLPM1_HUMAN	YLP motif containing 1						regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.?(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTGTTTGCAGGGAACAGAAA	0.358																																						uc001xqj.3																			2	Unknown(2)		lung(2)	ovary(2)|pancreas(1)	3						c.e6-1		YLP motif containing 1							70.0	67.0	68.0					14																	75269258		1832	4090	5922	SO:0001630	splice_region_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75269258G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2283-1G>A	14.37:g.75269258G>A						YLPM1_uc001xql.3_Splice_Site	p.R1467_splice	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	6	4525	+								P49752|Q96I64|Q9P1V7	Splice_Site	SNP	ENST00000552421.1	37	c.4401_splice		.	.	.	.	.	.	.	.	.	.	G	23.1	4.376143	0.82682	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9536	0.97212	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YLPM1	74339011	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.365000	0.73090	2.724000	0.93272	0.551000	0.68910	.		PASS	0.358	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	Intron	4	67	4	67	---	---	---	---
CIPC	85457	broad.mit.edu	37	14	77579782	77579782	+	Silent	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:77579782C>G	ENST00000361786.2	+	4	638	c.321C>G	c.(319-321)tcC>tcG	p.S107S	RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555611.1_3'UTR|KIAA1737_ENST00000555437.1_Missense_Mutation_p.P51A	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		107	Poly-Ser.				negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S107S(1)		endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GCAGCTCATCCCAGCTCCAGT	0.517																																						uc001xtd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(319-321)TCC>TCG		KIAA1737 protein							105.0	92.0	96.0					14																	77579782		2203	4300	6503	SO:0001819	synonymous_variant	85457							g.chr14:77579782C>G																												ENST00000361786.2:c.321C>G	14.37:g.77579782C>G						KIAA1737_uc001xtc.1_Silent_p.S9S	p.S107S	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	500	+			107			Poly-Ser.		B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	ENST00000361786.2	37	c.321C>G	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	C	7.638	0.680219	0.14907	.	.	ENSG00000198894	ENST00000555437	T	0.52983	0.64	5.73	1.82	0.25136	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15521	-1.0434	5	.	.	.	-16.8324	3.1069	0.06345	0.1246:0.546:0.121:0.2085	.	.	.	.	A	51	ENSP00000451997:P51A	.	P	+	1	0	KIAA1737	76649535	0.053000	0.20554	0.985000	0.45067	0.776000	0.43924	-1.021000	0.03615	0.335000	0.23614	-0.266000	0.10368	CCA		PASS	0.517	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			5	55	5	55	---	---	---	---
DLK1	8788	broad.mit.edu	37	14	101200491	101200491	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:101200491C>T	ENST00000341267.4	+	5	652	c.410C>T	c.(409-411)cCc>cTc	p.P137L	DLK1_ENST00000331224.6_Missense_Mutation_p.P137L	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	137	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.P137L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGCAGCTCCCCCTGCCAGCAC	0.647																																						uc001yhs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(409-411)CCC>CTC		delta-like 1 homolog precursor							35.0	34.0	34.0					14																	101200491		2194	4277	6471	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200491C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.410C>T	14.37:g.101200491C>T	ENSP00000340292:p.Pro137Leu					DLK1_uc001yhu.3_Missense_Mutation_p.P137L	p.P137L	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	563	+		Melanoma(154;0.155)	137			Extracellular (Potential).|EGF-like 4.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.410C>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312617	0.60414	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;D	0.95069	-3.6;-3.6	4.1	4.1	0.47936	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97730	1.0202	10	0.87932	D	0	.	15.6742	0.77303	0.0:1.0:0.0:0.0	.	137;137	P80370-2;P80370	.;DLK1_HUMAN	L	137	ENSP00000340292:P137L;ENSP00000331081:P137L	ENSP00000331081:P137L	P	+	2	0	DLK1	100270244	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.994000	0.70623	1.981000	0.57761	0.491000	0.48974	CCC		PASS	0.647	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			4	24	4	24	---	---	---	---
MIR493	574450	broad.mit.edu	37	14	101335439	101335439	+	RNA	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:101335439G>T	ENST00000385254.1	+	0	43					NR_030172.1				microRNA 493																		tcattcattcgtttgcacatt	0.587																																						hsa-mir-493|MI0003132																			0					0															119.0	110.0	112.0					14																	101335439		1568	3582	5150			574450							g.chr14:101335439G>T			14q32.2	2011-09-12		2008-12-18	ENSG00000207989	ENSG00000207989		"""ncRNAs / Micro RNAs"""	32082	non-coding RNA	RNA, micro				MIRN493			Standard	NR_030172		Approved	hsa-mir-493	uc021sca.1				14.37:g.101335439G>T																+									RNA	SNP	ENST00000385254.1	37	c.43G>T																																																																																					PASS	0.587	MIR493-201	KNOWN	basic	miRNA	miRNA		NR_030172		8	55	8	55	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101348215	101348215	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:101348215C>T	ENST00000534062.1	-	1	2969	c.2911G>A	c.(2911-2913)Gtc>Atc	p.V971I	MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	971					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.V971I(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AAGAAGAAGACCCAATGCCCG	0.557																																						uc010txj.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2911-2913)GTC>ATC		retrotransposon-like 1							101.0	102.0	102.0					14																	101348215		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101348215C>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2911G>A	14.37:g.101348215C>T	ENSP00000435342:p.Val971Ile					MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.V971I	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	2970	-			971					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.2911G>A	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825806	0.50739	.	.	ENSG00000254656	ENST00000534062	T	0.41758	0.99	3.39	3.39	0.38822	.	0.574792	0.13236	N	0.403209	T	0.32102	0.0818	L	0.27053	0.805	0.23862	N	0.996632	P	0.47409	0.895	B	0.42030	0.373	T	0.12041	-1.0563	10	0.41790	T	0.15	.	13.104	0.59237	0.0:1.0:0.0:0.0	.	971	E9PKS8	.	I	971	ENSP00000435342:V971I	ENSP00000435342:V971I	V	-	1	0	RTL1	100417968	0.996000	0.38824	0.999000	0.59377	0.848000	0.48234	0.354000	0.20146	2.210000	0.71456	0.555000	0.69702	GTC		PASS	0.557	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		14	120	14	120	---	---	---	---
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.2	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			breast|colorectal|ovarian|NSCLC		102	Substitution - Missense(102)	p.E17K(126)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134						c.(49-51)GAG>AAG		AKT1 kinase	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank	p.E17K	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	3	603	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17	E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8.	E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		PASS	0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		4	21	4	21	---	---	---	---
IGHV1-18	28468	broad.mit.edu	37	14	106641592	106641592	+	RNA	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr14:106641592C>G	ENST00000390605.2	-	0	380									immunoglobulin heavy variable 1-18																		GCCGTGTCGTCAGATCTCAGG	0.532																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							200.0	193.0	195.0					14																	106641592		2109	4209	6318			8755							g.chr14:106641592C>G	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641592C>G														1021		-									RNA	SNP	ENST00000390605.2	37	c.24409G>C																																																																																					PASS	0.532	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		6	188	6	188	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22368589	22368589	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:22368589A>C	ENST00000332663.2	+	1	112	c.14A>C	c.(13-15)aAt>aCt	p.N5T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5T(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAAACTGCAAATTACACCAAG	0.328																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)AAT>ACT		olfactory receptor, family 4, subfamily M,							180.0	161.0	168.0					15																	22368589		2203	4298	6501	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368589A>C	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.14A>C	15.37:g.22368589A>C	ENSP00000329467:p.Asn5Thr					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.N5T	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	14	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	5			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.14A>C	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.59	2.282197	0.40394	.	.	ENSG00000182974	ENST00000332663	T	0.02177	4.41	2.5	2.5	0.30297	.	0.000000	0.50627	D	0.000114	T	0.12902	0.0313	M	0.91406	3.205	0.30233	N	0.795734	D	0.69078	0.997	D	0.68943	0.961	T	0.01776	-1.1276	10	0.87932	D	0	-11.435	8.5824	0.33637	1.0:0.0:0.0:0.0	.	5	Q8NGB6	OR4M2_HUMAN	T	5	ENSP00000329467:N5T	ENSP00000329467:N5T	N	+	2	0	OR4M2	19869953	0.997000	0.39634	0.999000	0.59377	0.845000	0.48019	4.346000	0.59367	1.167000	0.42706	0.368000	0.22195	AAT		PASS	0.328	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			5	132	5	132	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382889	22382889	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:22382889A>T	ENST00000328795.4	+	1	508	c.417A>T	c.(415-417)agA>agT	p.R139S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGAACCCTAGAGCCTGCTATG	0.542																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(415-417)AGA>AGT		olfactory receptor, family 4, subfamily N,							185.0	160.0	168.0					15																	22382889		2191	4261	6452	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382889A>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.417A>T	15.37:g.22382889A>T	ENSP00000332500:p.Arg139Ser					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R139S	p.R139S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1398	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	139			Cytoplasmic (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.417A>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.103	0.777036	0.16120	.	.	ENSG00000183706	ENST00000328795	T	0.40756	1.02	3.24	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.141721	0.33253	N	0.005113	T	0.38348	0.1037	L	0.52126	1.63	0.09310	N	1	P	0.41848	0.763	P	0.46208	0.507	T	0.17561	-1.0365	10	0.48119	T	0.1	-7.6889	4.9469	0.13994	0.7327:0.0:0.2673:0.0	.	139	Q8N0Y3	OR4N4_HUMAN	S	139	ENSP00000332500:R139S	ENSP00000332500:R139S	R	+	3	2	OR4N4	19884253	0.000000	0.05858	0.511000	0.27724	0.178000	0.23041	-0.529000	0.06186	0.441000	0.26529	0.164000	0.16699	AGA		PASS	0.542	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			6	81	6	81	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26866631	26866631	+	Silent	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:26866631G>C	ENST00000311550.5	-	4	402	c.291C>G	c.(289-291)ctC>ctG	p.L97L	GABRB3_ENST00000299267.4_Silent_p.L97L|GABRB3_ENST00000541819.2_Silent_p.L153L|GABRB3_ENST00000545868.1_Silent_p.L12L|GABRB3_ENST00000400188.3_Silent_p.L26L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	97				L -> H (in Ref. 2; BAH13811). {ECO:0000305}.	cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.L97L(2)|p.L153L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGAATAGGCGAGCCTTTTAT	0.428																																						uc001zaz.2																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(289-291)CTC>CTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						91.0	91.0	91.0					15																	26866631		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866631G>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.291C>G	15.37:g.26866631G>C						GABRB3_uc010uae.1_Silent_p.L12L|GABRB3_uc001zba.2_Silent_p.L97L|GABRB3_uc001zbb.2_Silent_p.L153L|GABRB3_uc001zbc.2_RNA	p.L97L	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	4	433	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	97			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.291C>G	CCDS10019.1																																																																																				PASS	0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			3	32	3	32	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28235745	28235745	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:28235745C>A	ENST00000354638.3	-	10	1248	c.1093G>T	c.(1093-1095)Gca>Tca	p.A365S	OCA2_ENST00000353809.5_Intron|OCA2_ENST00000382996.2_Missense_Mutation_p.A365S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	365					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.A365S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCCAGTGCTGCCAGTGCTGCA	0.537									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1093-1095)GCA>TCA		oculocutaneous albinism II							167.0	148.0	154.0					15																	28235745		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28235745C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1093G>T	15.37:g.28235745C>A	ENSP00000346659:p.Ala365Ser					OCA2_uc010ayv.2_Intron	p.A365S	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	10	1203	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	365			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1093G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433890	0.43224	.	.	ENSG00000104044	ENST00000354638;ENST00000382996	D;D	0.93426	-3.22;-3.22	5.91	4.01	0.46588	Divalent ion symporter (1);	0.053861	0.64402	D	0.000001	D	0.93207	0.7836	L	0.52905	1.665	0.38512	D	0.948503	P	0.47962	0.903	P	0.53689	0.732	D	0.92995	0.6418	10	0.46703	T	0.11	-13.983	9.9082	0.41388	0.1404:0.7882:0.0:0.0714	.	365	Q04671	P_HUMAN	S	365	ENSP00000346659:A365S;ENSP00000372457:A365S	ENSP00000346659:A365S	A	-	1	0	OCA2	25909340	1.000000	0.71417	0.565000	0.28409	0.001000	0.01503	3.912000	0.56386	1.497000	0.48584	-0.181000	0.13052	GCA		PASS	0.537	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		11	110	11	110	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34648683	34648683	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:34648683T>A	ENST00000333756.4	+	7	2545	c.2390T>A	c.(2389-2391)cTa>cAa	p.L797Q	NUTM1_ENST00000438749.3_Missense_Mutation_p.L815Q|NUTM1_ENST00000537011.1_Missense_Mutation_p.L825Q	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	797						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L797Q(1)									GCAGCTGCCCTAGAAAAGAGA	0.542																																						uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	1	Substitution - Missense(1)		lung(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2389-2391)CTA>CAA		nuclear protein in testis							50.0	54.0	53.0					15																	34648683		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34648683T>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2390T>A	15.37:g.34648683T>A	ENSP00000329448:p.Leu797Gln					C15orf55_uc010ucc.1_Missense_Mutation_p.L825Q|C15orf55_uc010ucd.1_Missense_Mutation_p.L815Q	p.L797Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	2545	+		all_lung(180;2.78e-08)	797					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2390T>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132655	0.56828	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.12255	2.71;2.7;2.72	4.94	2.14	0.27477	.	0.961213	0.08531	N	0.931983	T	0.21062	0.0507	L	0.50333	1.59	0.09310	N	1	P;P;P	0.52061	0.917;0.95;0.917	P;P;P	0.53809	0.548;0.735;0.548	T	0.15723	-1.0427	10	0.45353	T	0.12	.	5.5351	0.17007	0.0:0.3142:0.0:0.6858	.	815;825;797	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	Q	825;815;797	ENSP00000444896:L825Q;ENSP00000407031:L815Q;ENSP00000329448:L797Q	ENSP00000329448:L797Q	L	+	2	0	C15orf55	32435975	0.160000	0.22878	0.011000	0.14972	0.323000	0.28346	1.001000	0.29783	0.394000	0.25230	0.454000	0.30748	CTA		PASS	0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		9	43	9	43	---	---	---	---
PLA2G4D	283748	broad.mit.edu	37	15	42378498	42378498	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:42378498C>T	ENST00000290472.3	-	4	394	c.300G>A	c.(298-300)gaG>gaA	p.E100E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	100	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.E100E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGATGTCATCCTCCGTGACTG	0.512																																						uc001zox.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(298-300)GAG>GAA		phospholipase A2, group IVD							112.0	95.0	101.0					15																	42378498		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42378498C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.300G>A	15.37:g.42378498C>T							p.E100E	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	4	395	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	100			C2.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.300G>A	CCDS32203.1																																																																																				PASS	0.512	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		10	40	10	40	---	---	---	---
ANKDD1A	348094	broad.mit.edu	37	15	65219162	65219162	+	Silent	SNP	C	C	A	rs200097861		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:65219162C>A	ENST00000380230.3	+	6	563	c.534C>A	c.(532-534)ctC>ctA	p.L178L	ANKDD1A_ENST00000395720.1_Silent_p.L178L|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395723.1_Silent_p.L87L|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Silent_p.L178L|ANKDD1A_ENST00000496660.1_Silent_p.L87L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	178					signal transduction (GO:0007165)			p.L178L(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGGACTTCCTCGTGGGCTCTG	0.612																																						uc002aoa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)CTC>CTA		ankyrin repeat and death domain containing 1A							132.0	112.0	119.0					15																	65219162		2202	4299	6501	SO:0001819	synonymous_variant	348094				signal transduction			g.chr15:65219162C>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.534C>A	15.37:g.65219162C>A						ANKDD1A_uc002anx.1_Silent_p.L174L|ANKDD1A_uc002any.2_Silent_p.L87L|ANKDD1A_uc002anz.2_Silent_p.L87L|ANKDD1A_uc002aob.2_Intron|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Silent_p.L87L	p.L178L	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			6	563	+			178			ANK 5.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	c.534C>A	CCDS10197.2																																																																																				PASS	0.612	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		4	60	4	60	---	---	---	---
TSPAN3	10099	broad.mit.edu	37	15	77348510	77348511	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:77348510_77348511GC>CA	ENST00000267970.4	-	2	423_424	c.150_151GC>TG	c.(148-153)acGCtc>acTGtc	p.L51V	TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000346495.2_Missense_Mutation_p.L51V|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000424443.3_Intron|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000559494.1_Intron	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	51						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L51V(2)|p.T50T(1)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GCAGGGATGAGCGTGTACACAT	0.475																																						uc002bcj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(151-153)CTC>GTC|c.(148-150)ACG>ACT		transmembrane 4 superfamily member 8 isoform 1																																				SO:0001583	missense	10099					integral to membrane		g.chr15:77348510G>C|g.chr15:77348511C>A		CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"""Tetraspanins"""	17752	protein-coding gene	gene with protein product		613134	"""transmembrane 4 superfamily member 8"""	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.150_151delinsCA	15.37:g.77348510_77348511delinsCA	ENSP00000267970:p.Leu51Val					TSPAN3_uc002bck.2_Missense_Mutation_p.L51V|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron|TSPAN3_uc002bck.2_Silent_p.T50T|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron	p.L51V|p.T50T	NM_005724	NP_005715	O60637	TSN3_HUMAN		all cancers(203;1.14e-19)	2	368|367	-			51|50			Helical; (Potential).|Extracellular (Potential).		A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Missense_Mutation|Silent	SNP	ENST00000267970.4	37	c.151C>G|c.150G>T	CCDS10292.1																																																																																				PASS	0.475	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724		7	123	7	123	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85438170	85438170	+	Splice_Site	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:85438170G>T	ENST00000286749.3	+	5	367		c.e5-1		SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000338602.2_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000394573.1_Splice_Site			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.?(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TCATCCCCCAGGGCTCTCTGC	0.647																																						uc002blg.2																			2	Unknown(2)		lung(2)	skin(2)|ovary(1)	3						c.e6-1		solute carrier family 28, member 1 isoform 1							57.0	61.0	59.0					15																	85438170		2203	4299	6502	SO:0001630	splice_region_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85438170G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.278-1G>T	15.37:g.85438170G>T						SLC28A1_uc010upd.1_Splice_Site_p.G15_splice|SLC28A1_uc010bnb.2_Splice_Site_p.G93_splice|SLC28A1_uc010upe.1_Splice_Site_p.G93_splice|SLC28A1_uc010upf.1_Splice_Site_p.G93_splice|SLC28A1_uc010upg.1_Splice_Site_p.G93_splice|SLC28A1_uc002blf.2_Splice_Site_p.G93_splice	p.G93_splice	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	480	+								A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Splice_Site	SNP	ENST00000286749.3	37	c.278_splice	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102237	0.37048	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6115	0.56554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A1	83239174	1.000000	0.71417	0.774000	0.31636	0.048000	0.14542	4.306000	0.59117	2.415000	0.81967	0.655000	0.94253	.		PASS	0.647	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		Intron	18	41	18	41	---	---	---	---
PAQR4	124222	broad.mit.edu	37	16	3021766	3021766	+	Silent	SNP	G	G	A	rs192812860	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:3021766G>A	ENST00000318782.8	+	3	1069	c.639G>A	c.(637-639)gcG>gcA	p.A213A	PAQR4_ENST00000576565.1_Silent_p.A146A|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Silent_p.A139A|PAQR4_ENST00000574988.1_Silent_p.A146A|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Silent_p.A174A	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	213						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A213A(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACGCACTGGCGCTGCTTGGGG	0.657													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16888	0.0		0.0	False		,,,				2504	0.001					uc002csj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)GCG>GCA		progestin and adipoQ receptor family member IV							47.0	50.0	49.0					16																	3021766		2198	4300	6498	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021766G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.639G>A	16.37:g.3021766G>A						PAQR4_uc002csk.3_Silent_p.A174A|PAQR4_uc002csl.3_Silent_p.A139A|PAQR4_uc010uwm.1_Silent_p.A144A	p.A213A	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN			3	973	+			213					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.639G>A	CCDS10485.1																																																																																				PASS	0.657	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		5	29	5	29	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3832794	3832794	+	Silent	SNP	G	G	T	rs547854315	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:3832794G>T	ENST00000262367.5	-	6	2273	c.1464C>A	c.(1462-1464)ctC>ctA	p.L488L	CREBBP_ENST00000382070.3_Silent_p.L450L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	488					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L488L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGGAGTCCGAGAGCAGCAT	0.557			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(1462-1464)CTC>CTA		CREB binding protein isoform a							134.0	120.0	125.0					16																	3832794		2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3832794G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1464C>A	16.37:g.3832794G>T						CREBBP_uc002cvw.2_Silent_p.L450L	p.L488L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	6	1668	-		Ovarian(90;0.0266)	488					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.1464C>A	CCDS10509.1																																																																																				PASS	0.557	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		4	51	4	51	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20329643	20329643	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:20329643C>A	ENST00000381362.4	-	8	1202	c.1126G>T	c.(1126-1128)Gtt>Ttt	p.V376F	GP2_ENST00000341642.5_Missense_Mutation_p.V226F|GP2_ENST00000302555.5_Missense_Mutation_p.V373F|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Missense_Mutation_p.V229F	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	376	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.V373F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACGGACTCAACAGACAGTTCA	0.527																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1126-1128)GTT>TTT		zymogen granule membrane glycoprotein 2 isoform							296.0	228.0	251.0					16																	20329643		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20329643C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1126G>T	16.37:g.20329643C>A	ENSP00000370767:p.Val376Phe					GP2_uc002dgw.2_Missense_Mutation_p.V373F|GP2_uc002dgx.2_Missense_Mutation_p.V229F|GP2_uc002dgy.2_Missense_Mutation_p.V226F	p.V376F	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1209	-			376			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1126G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016872	0.35606	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.8	4.84	0.62591	Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.91212	0.7231	M	0.80183	2.485	0.18873	N	0.999984	D;D;D;D	0.76494	0.991;0.993;0.999;0.993	D;D;D;D	0.71184	0.929;0.969;0.948;0.972	T	0.83190	-0.0084	9	0.62326	D	0.03	-24.8978	9.3319	0.38027	0.0:0.8383:0.0:0.1617	.	226;354;373;376	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	F	373;376;229;226;354	ENSP00000304044:V373F;ENSP00000370767:V376F;ENSP00000370765:V229F;ENSP00000343861:V226F	ENSP00000304044:V373F	V	-	1	0	GP2	20237144	0.793000	0.28825	0.152000	0.22495	0.005000	0.04900	2.169000	0.42434	2.741000	0.93983	0.650000	0.86243	GTT		PASS	0.527	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		23	128	23	128	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20682918	20682918	+	Silent	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:20682918G>A	ENST00000307493.4	-	4	754	c.687C>T	c.(685-687)acC>acT	p.T229T	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.T229T	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	229					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.T229T(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGAAGCCTGTGGTCCCACTGG	0.532																																						uc002dhm.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(685-687)ACC>ACT		acyl-CoA synthetase medium-chain family member							124.0	103.0	110.0					16																	20682918		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20682918G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.687C>T	16.37:g.20682918G>A						ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.T229T	p.T229T	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			4	755	-			229			ATP (By similarity).		Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.687C>T	CCDS10587.1																																																																																				PASS	0.532	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		9	47	9	47	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27789275	27789275	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:27789275A>C	ENST00000261588.4	+	27	4805	c.4786A>C	c.(4786-4788)Agc>Cgc	p.S1596R		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1596						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S1596R(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGGAAGCAGAGCGTTGTTGA	0.512																																						uc002dow.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(4786-4788)AGC>CGC		hypothetical protein LOC23247							135.0	116.0	122.0					16																	27789275		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27789275A>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4786A>C	16.37:g.27789275A>C	ENSP00000261588:p.Ser1596Arg					KIAA0556_uc010vco.1_Missense_Mutation_p.S98R	p.S1596R	NM_015202	NP_056017	O60303	K0556_HUMAN			27	4810	+			1596					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.4786A>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	9.829	1.188013	0.21954	.	.	ENSG00000047578	ENST00000261588	T	0.09255	3.0	4.75	-0.547	0.11836	.	0.876840	0.10116	N	0.714021	T	0.06872	0.0175	L	0.29908	0.895	0.09310	N	1	P	0.38767	0.646	B	0.32980	0.156	T	0.38156	-0.9674	10	0.16420	T	0.52	-22.1303	10.8671	0.46862	0.3786:0.0:0.6214:0.0	.	1596	O60303	K0556_HUMAN	R	1596	ENSP00000261588:S1596R	ENSP00000261588:S1596R	S	+	1	0	KIAA0556	27696776	0.001000	0.12720	0.012000	0.15200	0.200000	0.23975	0.252000	0.18278	-0.303000	0.08856	0.459000	0.35465	AGC		PASS	0.512	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		8	66	8	66	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46782053	46782053	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:46782053C>A	ENST00000394809.4	-	1	168	c.53G>T	c.(52-54)gGc>gTc	p.G18V	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	18					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.G18V(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCAGGTCTTGCCCAACCCTGG	0.562																																						uc002eei.3																			2	Substitution - Missense(2)		lung(2)	stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(52-54)GGC>GTC		myosin light chain kinase 3							65.0	68.0	67.0					16																	46782053		2202	4296	6498	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46782053C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.53G>T	16.37:g.46782053C>A	ENSP00000378288:p.Gly18Val					MYLK3_uc010vge.1_Intron	p.G18V	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			1	169	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	18					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.53G>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416849	0.42918	.	.	ENSG00000140795	ENST00000394809	T	0.80304	-1.36	5.42	2.37	0.29283	.	.	.	.	.	T	0.70718	0.3256	L	0.56769	1.78	0.80722	D	1	P	0.37781	0.608	B	0.31290	0.127	T	0.66073	-0.6014	9	0.72032	D	0.01	.	5.0112	0.14313	0.1669:0.656:0.0:0.1771	.	18	Q32MK0	MYLK3_HUMAN	V	18	ENSP00000378288:G18V	ENSP00000378288:G18V	G	-	2	0	MYLK3	45339554	0.994000	0.37717	0.977000	0.42913	0.171000	0.22731	1.181000	0.32017	0.256000	0.21614	0.491000	0.48974	GGC		PASS	0.562	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		11	38	11	38	---	---	---	---
DPEP3	64180	broad.mit.edu	37	16	68010022	68010022	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:68010022G>T	ENST00000268793.4	-	9	1652	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	402					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.L427M(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AAGACCCGCAGCAGGTTTCCA	0.562																																						uc002evc.3																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1279-1281)CTG>ATG		dipeptidase 3 isoform a							175.0	176.0	176.0					16																	68010022		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010022G>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1279C>A	16.37:g.68010022G>T	ENSP00000268793:p.Leu427Met					DPEP3_uc010cex.2_Missense_Mutation_p.L426M	p.L427M	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	9	1373	-		Ovarian(137;0.192)	402					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1279C>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370711	0.82573	.	.	ENSG00000141096	ENST00000268793	T	0.28069	1.63	4.76	3.8	0.43715	.	0.000000	0.64402	D	0.000002	T	0.51381	0.1671	M	0.84326	2.69	0.48696	D	0.999694	P	0.51057	0.941	P	0.57548	0.823	T	0.56335	-0.7996	10	0.56958	D	0.05	-2.2618	12.6205	0.56600	0.0868:0.0:0.9132:0.0	.	402	Q9H4B8	DPEP3_HUMAN	M	427	ENSP00000268793:L427M	ENSP00000268793:L427M	L	-	1	2	DPEP3	66567523	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.616000	0.54174	2.619000	0.88677	0.655000	0.94253	CTG		PASS	0.562	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		29	187	29	187	---	---	---	---
ADAT1	23536	broad.mit.edu	37	16	75634194	75634194	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:75634194G>T	ENST00000307921.3	-	11	1574	c.1429C>A	c.(1429-1431)Cag>Aag	p.Q477K	ADAT1_ENST00000568478.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	477	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.Q477K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CAGGCTTCCTGGTAAGAGGAC	0.512																																						uc002feo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1429-1431)CAG>AAG		adenosine deaminase, tRNA-specific 1							115.0	107.0	109.0					16																	75634194		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75634194G>T	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1429C>A	16.37:g.75634194G>T	ENSP00000310015:p.Gln477Lys					ADAT1_uc002fep.1_Missense_Mutation_p.Q328K	p.Q477K	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			11	1531	-			477			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.1429C>A	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673357	0.88445	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94687	-3.49	5.69	5.69	0.88448	Adenosine deaminase/editase (3);	0.051719	0.85682	D	0.000000	D	0.97514	0.9186	M	0.88377	2.95	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	D	0.97582	1.0111	10	0.52906	T	0.07	-0.0017	15.32	0.74115	0.0:0.0:1.0:0.0	.	477	Q9BUB4	ADAT1_HUMAN	K	477;448	ENSP00000310015:Q477K	ENSP00000310015:Q477K	Q	-	1	0	ADAT1	74191695	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.924000	0.70054	2.677000	0.91161	0.655000	0.94253	CAG		PASS	0.512	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		5	70	5	70	---	---	---	---
TUSC5	286753	broad.mit.edu	37	17	1183600	1183600	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:1183600G>C	ENST00000333813.3	+	1	644	c.305G>C	c.(304-306)aGa>aCa	p.R102T		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	102					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.R102T(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGCCCCCAGAGATTACCTC	0.627																																						uc002fsi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(304-306)AGA>ACA		LOST1							73.0	85.0	81.0					17																	1183600		1949	4124	6073	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183600G>C	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.305G>C	17.37:g.1183600G>C	ENSP00000329548:p.Arg102Thr						p.R102T	NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	644	+			102					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.305G>C	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304897	0.40795	.	.	ENSG00000184811	ENST00000333813	D	0.86769	-2.17	5.28	1.63	0.23807	.	0.439410	0.21423	U	0.074798	T	0.75199	0.3817	N	0.25485	0.75	0.24173	N	0.995617	B	0.14012	0.009	B	0.16722	0.016	T	0.61806	-0.6987	10	0.40728	T	0.16	-0.3264	4.5117	0.11915	0.4478:0.2914:0.2608:0.0	.	102	Q8IXB3	TUSC5_HUMAN	T	102	ENSP00000329548:R102T	ENSP00000329548:R102T	R	+	2	0	TUSC5	1130350	0.995000	0.38212	0.999000	0.59377	0.957000	0.61999	0.993000	0.29680	0.346000	0.23899	-0.499000	0.04595	AGA		PASS	0.627	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		6	31	6	31	---	---	---	---
SERPINF2	5345	broad.mit.edu	37	17	1657687	1657687	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:1657687G>T	ENST00000324015.3	+	10	1412	c.1335G>T	c.(1333-1335)aaG>aaT	p.K445N	SERPINF2_ENST00000382061.4_Missense_Mutation_p.K445N|SERPINF2_ENST00000450523.2_Missense_Mutation_p.K381N	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	445					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K445N(1)		breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GGGAGCTCAAGGAACAGCAGG	0.607																																						uc002ftk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1333-1335)AAG>AAT		alpha-2-antiplasmin isoform a precursor	Streptokinase(DB00086)						105.0	102.0	103.0					17																	1657687		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1657687G>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.1335G>T	17.37:g.1657687G>T	ENSP00000321853:p.Lys445Asn					SERPINF2_uc010vqr.1_Missense_Mutation_p.K381N	p.K445N	NM_000934	NP_000925	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1412	+			445					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.1335G>T	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391038	0.25118	.	.	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000382061	D;D;D	0.85556	-1.98;-2.0;-1.98	5.5	3.49	0.39957	.	0.176019	0.49305	D	0.000142	T	0.79782	0.4505	M	0.64997	1.995	0.30258	N	0.793398	B;B	0.24426	0.103;0.103	B;B	0.17979	0.02;0.02	T	0.72776	-0.4191	9	.	.	.	.	7.9168	0.29822	0.2599:0.0:0.7401:0.0	.	381;445	B4E1B7;P08697	.;A2AP_HUMAN	N	445;381;445	ENSP00000321853:K445N;ENSP00000403877:K381N;ENSP00000371493:K445N	.	K	+	3	2	SERPINF2	1604437	1.000000	0.71417	0.997000	0.53966	0.265000	0.26407	1.007000	0.29860	1.327000	0.45338	0.561000	0.74099	AAG		PASS	0.607	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		6	69	6	69	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.2_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.1_Missense_Mutation_p.H154R	p.H193R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	772	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	16	5	16	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10216043	10216043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:10216043C>A	ENST00000418404.3	-	30	4376	c.4213G>T	c.(4213-4215)Gag>Tag	p.E1405*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E1405*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1405					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1405*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGTTCTCCTCTGCTTCCTGG	0.517																																						uc002gmk.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)	6						c.(4213-4215)GAG>TAG		myosin, heavy polypeptide 13, skeletal muscle							44.0	47.0	46.0					17																	10216043		2170	4287	6457	SO:0001587	stop_gained	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216043C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4213G>T	17.37:g.10216043C>A	ENSP00000404570:p.Glu1405*						p.E1405*	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			31	4303	-			1405			Potential.		O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	c.4213G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	44	11.068931	0.99511	.	.	ENSG00000006788	ENST00000252172	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5699	0.84608	0.0:1.0:0.0:0.0	.	.	.	.	X	1405	.	ENSP00000252172:E1405X	E	-	1	0	MYH13	10156768	1.000000	0.71417	0.979000	0.43373	0.816000	0.46133	6.088000	0.71371	2.207000	0.71202	0.462000	0.41574	GAG		PASS	0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	21	7	21	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10443358	10443358	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:10443358G>T	ENST00000245503.5	-	12	1418	c.1034C>A	c.(1033-1035)aCt>aAt	p.T345N	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T345N|MYH2_ENST00000532183.2_Missense_Mutation_p.T345N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	345	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T345N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTTCATTAGTAAAGCCCAA	0.418																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1033-1035)ACT>AAT		myosin heavy chain IIa							133.0	129.0	130.0					17																	10443358		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443358G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1034C>A	17.37:g.10443358G>T	ENSP00000245503:p.Thr345Asn					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T345N|MYH2_uc010coj.2_Missense_Mutation_p.T345N	p.T345N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			12	1162	-			345			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1034C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953446	0.34471	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87571	-2.27;-2.27;-2.27	5.03	4.03	0.46877	Myosin head, motor domain (2);	0.187890	0.24957	U	0.034247	T	0.79839	0.4515	L	0.33245	0.995	0.36376	D	0.861605	B;B	0.02656	0.0;0.0	B;B	0.14578	0.003;0.011	T	0.78355	-0.2236	10	0.45353	T	0.12	.	9.9908	0.41870	0.0:0.2773:0.58:0.1427	.	345;345	Q567P6;Q9UKX2	.;MYH2_HUMAN	N	345	ENSP00000433944:T345N;ENSP00000245503:T345N;ENSP00000380367:T345N	ENSP00000245503:T345N	T	-	2	0	MYH2	10384083	0.972000	0.33761	0.996000	0.52242	0.974000	0.67602	1.672000	0.37523	1.433000	0.47394	0.650000	0.86243	ACT		PASS	0.418	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		16	79	16	79	---	---	---	---
TEKT3	64518	broad.mit.edu	37	17	15207316	15207316	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:15207316C>G	ENST00000395930.1	-	9	1596	c.1410G>C	c.(1408-1410)caG>caC	p.Q470H	TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Missense_Mutation_p.Q470H	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	470					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.Q470H(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGCATTTTTCCTGGTCGATGT	0.562																																						uc002gon.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1408-1410)CAG>CAC		tektin 3							170.0	140.0	150.0					17																	15207316		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15207316C>G	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1410G>C	17.37:g.15207316C>G	ENSP00000379263:p.Gln470His						p.Q470H	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	9	1597	-			470					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.1410G>C	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509084	0.27036	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.02606	4.23;4.23	5.12	0.821	0.18799	.	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	M	0.84433	2.695	0.44603	D	0.997571	D	0.76494	0.999	D	0.74674	0.984	T	0.03268	-1.1054	10	0.72032	D	0.01	-10.6038	1.6984	0.02867	0.1339:0.455:0.1297:0.2814	.	470	Q9BXF9	TEKT3_HUMAN	H	470	ENSP00000379263:Q470H;ENSP00000343995:Q470H	ENSP00000343995:Q470H	Q	-	3	2	TEKT3	15148041	1.000000	0.71417	0.988000	0.46212	0.917000	0.54804	1.461000	0.35255	0.024000	0.15214	0.561000	0.74099	CAG		PASS	0.562	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		8	34	8	34	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29162429	29162429	+	Nonsense_Mutation	SNP	A	A	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:29162429A>T	ENST00000321990.4	+	2	1708	c.1330A>T	c.(1330-1332)Aaa>Taa	p.K444*	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	444					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K444*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGATAATTCTAAAAAAATCAT	0.294																																						uc002hfs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1330-1332)AAA>TAA		ATPase family, AAA domain containing 5							36.0	41.0	39.0					17																	29162429		2114	4255	6369	SO:0001587	stop_gained	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162429A>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1330A>T	17.37:g.29162429A>T	ENSP00000313171:p.Lys444*					ATAD5_uc002hft.1_Nonsense_Mutation_p.K341*	p.K444*	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	1676	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	444					Q05DH0|Q69YR6|Q9H9I1	Nonsense_Mutation	SNP	ENST00000321990.4	37	c.1330A>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	39	7.488171	0.98316	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.31	1.68	0.24146	.	1.115790	0.06479	N	0.732584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2961	0.15752	0.7176:0.0:0.1502:0.1321	.	.	.	.	X	444	.	ENSP00000313171:K444X	K	+	1	0	ATAD5	26186555	0.998000	0.40836	0.994000	0.49952	0.977000	0.68977	1.458000	0.35223	0.869000	0.35703	0.533000	0.62120	AAA		PASS	0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		9	27	9	27	---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42636019	42636019	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:42636019C>T	ENST00000315323.3	+	1	1095	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	321					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G321G(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGTGCAGGGCACCAAGAAGG	0.617																																						uc002igx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(961-963)GGC>GGT		frizzled 2 precursor							80.0	73.0	75.0					17																	42636019		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636019C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.963C>T	17.37:g.42636019C>T							p.G321G	NM_001466	NP_001457	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1095	+		Prostate(33;0.0181)	321			Extracellular (Potential).		Q0VG82	Silent	SNP	ENST00000315323.3	37	c.963C>T	CCDS11484.1																																																																																				PASS	0.617	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		14	30	14	30	---	---	---	---
HOXB2	3212	broad.mit.edu	37	17	46622226	46622226	+	Silent	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:46622226C>A	ENST00000330070.4	-	1	1215	c.48G>T	c.(46-48)ccG>ccT	p.P16P	HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	16					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P16P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CGGCGAGCGACGGCTGGCTGT	0.527																																						uc002inm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)CCG>CCT		homeobox B2							49.0	57.0	55.0					17																	46622226		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622226C>A		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.48G>T	17.37:g.46622226C>A							p.P16P	NM_002145	NP_002136	P14652	HXB2_HUMAN			1	168	-			16					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.48G>T	CCDS11527.1																																																																																				PASS	0.527	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			11	32	11	32	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65871037	65871037	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:65871037G>C	ENST00000321892.4	+	4	1826	c.1765G>C	c.(1765-1767)Gat>Cat	p.D589H	BPTF_ENST00000424123.3_Missense_Mutation_p.D450H|BPTF_ENST00000335221.5_Missense_Mutation_p.D589H|BPTF_ENST00000306378.6_Missense_Mutation_p.D589H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	589					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D589H(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGACTCTAAAGATGCTGAGAA	0.388																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1765-1767)GAT>CAT		bromodomain PHD finger transcription factor							108.0	113.0	111.0					17																	65871037		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65871037G>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1765G>C	17.37:g.65871037G>C	ENSP00000315454:p.Asp589His					BPTF_uc002jge.2_Missense_Mutation_p.D589H|BPTF_uc010wqm.1_Missense_Mutation_p.D589H	p.D589H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	1826	+	all_cancers(12;6e-11)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1765G>C		.	.	.	.	.	.	.	.	.	.	G	10.16	1.273396	0.23221	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.65178	-0.06;-0.14;-0.13	4.79	4.79	0.61399	.	.	.	.	.	T	0.72542	0.3473	L	0.51422	1.61	0.32290	N	0.56648	P;D;D	0.76494	0.826;0.992;0.999	B;P;D	0.63192	0.417;0.824;0.912	T	0.77864	-0.2429	9	0.66056	D	0.02	-12.1943	15.3535	0.74409	0.0:0.0:1.0:0.0	.	589;589;589	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	H	494;589;589;589;450	ENSP00000307208:D589H;ENSP00000334351:D589H;ENSP00000315454:D589H	ENSP00000307208:D589H	D	+	1	0	BPTF	63301499	1.000000	0.71417	0.996000	0.52242	0.586000	0.36452	5.759000	0.68785	2.341000	0.79615	0.591000	0.81541	GAT		PASS	0.388	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	184	5	184	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76099517	76099517	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:76099517C>T	ENST00000588061.1	+	21	5322	c.4595C>T	c.(4594-4596)aCa>aTa	p.T1532I	TNRC6C_ENST00000544502.1_Missense_Mutation_p.T1568I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T1568I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T1532I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T1532I|TNRC6C_ENST00000335749.4_Missense_Mutation_p.T1568I			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1532	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T1568I(1)|p.T1532I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACACTGCGGACATTGTGTTTG	0.473																																						uc002jud.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(4594-4596)ACA>ATA		trinucleotide repeat containing 6C isoform 2							92.0	90.0	91.0					17																	76099517		1985	4163	6148	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76099517C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4595C>T	17.37:g.76099517C>T	ENSP00000468647:p.Thr1532Ile					TNRC6C_uc002juf.2_Missense_Mutation_p.T1568I	p.T1532I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		20	5195	+			1532			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4595C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666332	0.88251	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.34	4.34	0.51931	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.79926	2.475	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	T	0.74241	-0.3729	10	0.87932	D	0	-7.1945	16.864	0.86025	0.0:1.0:0.0:0.0	.	1568;1532	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	I	1532;1568;1568;1532;1532;1568	ENSP00000336783:T1568I;ENSP00000301624:T1532I;ENSP00000440310:T1532I;ENSP00000442421:T1568I	ENSP00000301624:T1532I	T	+	2	0	TNRC6C	73611112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.769000	0.85360	1.949000	0.56562	0.561000	0.74099	ACA		PASS	0.473	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		10	34	10	34	---	---	---	---
ARHGAP28	79822	broad.mit.edu	37	18	6873571	6873571	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr18:6873571G>T	ENST00000383472.4	+	8	1222	c.1118G>T	c.(1117-1119)cGa>cTa	p.R373L	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R373L|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R196L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R214L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R321L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R214L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.R214L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R209L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	373					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R214L(1)|p.R373L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GTAAAAGGACGAGGTAACTAA	0.358																																						uc010wzi.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(586-588)CGA>CTA		SubName: Full=Putative uncharacterized protein ARHGAP28;							103.0	106.0	105.0					18																	6873571		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6873571G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1118G>T	18.37:g.6873571G>T	ENSP00000372964:p.Arg373Leu					ARHGAP28_uc002knc.2_Missense_Mutation_p.R321L|ARHGAP28_uc002knd.2_Missense_Mutation_p.R214L|ARHGAP28_uc002kne.2_Missense_Mutation_p.R214L|ARHGAP28_uc002knf.2_Missense_Mutation_p.R205L	p.R196L			B4DXL2	B4DXL2_HUMAN			7	825	+		Colorectal(10;0.168)	196					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.587G>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.142351	0.77888	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.26	5.26	0.73747	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.119696	0.53938	D	0.000048	T	0.58821	0.2149	L	0.58101	1.795	0.46749	D	0.999182	D;D;D;D	0.89917	1.0;0.989;0.994;0.994	D;P;P;D	0.72982	0.979;0.809;0.906;0.954	T	0.60100	-0.7329	10	0.66056	D	0.02	.	12.572	0.56342	0.0766:0.0:0.9234:0.0	.	373;205;214;321	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	373;321;214;209;214;214;205;196	ENSP00000382963:R373L;ENSP00000262227:R321L;ENSP00000392660:R214L;ENSP00000437262:R209L;ENSP00000313506:R214L;ENSP00000406907:R214L	ENSP00000262227:R321L	R	+	2	0	ARHGAP28	6863571	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.436000	0.66538	2.614000	0.88457	0.650000	0.86243	CGA		PASS	0.358	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		6	94	6	94	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9557344	9557344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr18:9557344C>A	ENST00000400556.3	-	15	2138	c.2065G>T	c.(2065-2067)Gag>Tag	p.E689*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.E672*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	689					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.E689*(1)		large_intestine(1)|skin(2)	3						ACTGCAAGCTCGTGGATGGAG	0.398																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2065-2067)GAG>TAG		protein phosphatase 4, regulatory subunit 1							137.0	132.0	133.0					18																	9557344		1860	4098	5958	SO:0001587	stop_gained	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9557344C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2065G>T	18.37:g.9557344C>A	ENSP00000383402:p.Glu689*					PPP4R1_uc002kof.2_Nonsense_Mutation_p.E106*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.E535*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.E672*	p.E689*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			15	2183	-			689					Q99774|Q9UNQ7	Nonsense_Mutation	SNP	ENST00000400556.3	37	c.2065G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	39	7.523624	0.98335	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	.	.	.	5.62	5.62	0.85841	.	0.054916	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.5941	19.661	0.95871	0.0:1.0:0.0:0.0	.	.	.	.	X	689;672	.	.	E	-	1	0	PPP4R1	9547344	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	7.487000	0.81328	2.659000	0.90383	0.655000	0.94253	GAG		PASS	0.398	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		4	118	4	118	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323945	31323945	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr18:31323945G>T	ENST00000269197.5	+	12	4133	c.4133G>T	c.(4132-4134)gGg>gTg	p.G1378V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1378					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.G1378V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCATACCTGGGAGTGAAGAA	0.502											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4132-4134)GGG>GTG		additional sex combs like 3							96.0	98.0	97.0					18																	31323945		1970	4156	6126	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323945G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4133G>T	18.37:g.31323945G>T	ENSP00000269197:p.Gly1378Val		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.G1085V	p.G1378V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4188	+			1378					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4133G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162539	0.57368	.	.	ENSG00000141431	ENST00000269197	T	0.20200	2.09	6.03	4.18	0.49190	.	.	.	.	.	T	0.24851	0.0603	L	0.29908	0.895	0.58432	D	0.999999	P	0.48589	0.912	P	0.48454	0.578	T	0.02251	-1.1188	9	0.87932	D	0	.	16.6714	0.85268	0.0:0.2446:0.7554:0.0	.	1378	Q9C0F0	ASXL3_HUMAN	V	1378	ENSP00000269197:G1378V	ENSP00000269197:G1378V	G	+	2	0	ASXL3	29577943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.967000	0.56802	0.812000	0.34326	0.655000	0.94253	GGG		PASS	0.502	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			6	103	6	103	---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33283583	33283583	+	Silent	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr18:33283583C>T	ENST00000269195.5	+	10	1612	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	GALNT1_ENST00000537549.1_Silent_p.N443N	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	503	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N503N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAAGGCAACCAACTCTGGG	0.373																																						uc010dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1507-1509)AAC>AAT		polypeptide N-acetylgalactosaminyltransferase 1							87.0	85.0	86.0					18																	33283583		2203	4300	6503	SO:0001819	synonymous_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33283583C>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1509C>T	18.37:g.33283583C>T						GALNT1_uc002kyz.3_Silent_p.N443N|GALNT1_uc002kzb.2_Silent_p.N503N	p.N503N	NM_020474	NP_065207	Q10472	GALT1_HUMAN			11	1562	+			503			Lumenal (Potential).|Ricin B-type lectin.		Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.1509C>T	CCDS11915.1																																																																																				PASS	0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		7	70	7	70	---	---	---	---
C18orf32	497661	broad.mit.edu	37	18	47010053	47010053	+	Silent	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr18:47010053T>C	ENST00000318240.3	-	2	277	c.66A>G	c.(64-66)ccA>ccG	p.P22P	C18orf32_ENST00000579820.1_Silent_p.P22P|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.H161R|RPL17-C18orf32_ENST00000584895.1_Missense_Mutation_p.H199R|C18orf32_ENST00000582392.1_Silent_p.P22P|RP11-110H1.4_ENST00000580150.1_RNA	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	22					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)		signal transducer activity (GO:0004871)	p.P22P(1)		large_intestine(2)|lung(1)	3						GGTATATATATGGCTCCAGGA	0.398																																						uc002ldk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)CCA>CCG		hypothetical protein LOC497661							138.0	135.0	136.0					18																	47010053		2203	4300	6503	SO:0001819	synonymous_variant	497661				positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity	g.chr18:47010053T>C	AK027111	CCDS32831.1	18q21.1	2012-10-24			ENSG00000177576	ENSG00000177576			31690	protein-coding gene	gene with protein product							Standard	NM_001035005		Approved	FLJ23458	uc002ldl.3	Q8TCD1	OTTHUMG00000179688	ENST00000318240.3:c.66A>G	18.37:g.47010053T>C						C18orf32_uc002ldl.2_Silent_p.P22P|C18orf32_uc002ldm.1_Missense_Mutation_p.H199R	p.P22P	NM_001035005	NP_001030177	Q8TCD1	CR032_HUMAN			2	278	-			22						Silent	SNP	ENST00000318240.3	37	c.66A>G	CCDS32831.1																																																																																				PASS	0.398	C18orf32-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447656.1	NM_001035005		10	83	10	83	---	---	---	---
SERPINB3	6317	broad.mit.edu	37	18	61328424	61328424	+	Silent	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr18:61328424G>A	ENST00000283752.5	-	2	170	c.27C>T	c.(25-27)acC>acT	p.T9T	SERPINB3_ENST00000332821.8_Silent_p.T9T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	9					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.T9T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACATGAACTTGGTGTTGGCTT	0.413																																						uc002ljg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(25-27)ACC>ACT		SubName: Full=Squamous cell carcinoma antigen 2;							264.0	237.0	246.0					18																	61328424		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328424G>A	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.27C>T	18.37:g.61328424G>A						SERPINB3_uc002lji.2_Silent_p.T9T|SERPINB3_uc010dqa.2_Silent_p.T9T|SERPINB3_uc010dqb.2_Silent_p.T9T|SERPINB3_uc010dqc.2_Silent_p.T9T	p.T9T			P48594	SPB4_HUMAN			1	53	-			9					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	c.27C>T	CCDS11987.1																																																																																				PASS	0.413	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		14	115	14	115	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8609217	8609217	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:8609217C>T	ENST00000338257.8	-	14	1755	c.1488G>A	c.(1486-1488)tgG>tgA	p.W496*	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	496	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.W496*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCCGGCGCTCCAGCTGTTGA	0.677																																						uc002mkg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1486-1488)TGG>TGA		myosin IF							37.0	50.0	46.0					19																	8609217		2088	4193	6281	SO:0001587	stop_gained	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8609217C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1488G>A	19.37:g.8609217C>T	ENSP00000344871:p.Trp496*						p.W496*	NM_012335	NP_036467	O00160	MYO1F_HUMAN			14	1602	-			496			Myosin head-like.		Q8WWN7	Nonsense_Mutation	SNP	ENST00000338257.8	37	c.1488G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	c	39	7.454770	0.98296	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	3.62	3.62	0.41486	.	0.160271	0.45126	U	0.000390	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	14.0106	0.64493	0.0:1.0:0.0:0.0	.	.	.	.	X	541;496	.	ENSP00000304899:W541X	W	-	3	0	MYO1F	8515217	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.463000	0.80869	1.847000	0.53656	0.443000	0.29094	TGG		PASS	0.677	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			4	15	4	15	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9074998	9074998	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:9074998G>T	ENST00000397910.4	-	3	12651	c.12448C>A	c.(12448-12450)Cct>Act	p.P4150T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4152	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.P4150T(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						ACAGAGGGAGGGCTTGGCTGT	0.502																																						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.(12448-12450)CCT>ACT		mucin 16							154.0	144.0	148.0					19																	9074998		2020	4166	6186	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074998G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12448C>A	19.37:g.9074998G>T	ENSP00000381008:p.Pro4150Thr						p.P4150T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12652	-			4152			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12448C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.840	0.156207	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	1.77	0.625	0.17665	.	.	.	.	.	T	0.32852	0.0843	L	0.53249	1.67	.	.	.	D	0.65815	0.995	D	0.66351	0.943	T	0.40194	-0.9576	8	0.87932	D	0	.	5.0912	0.14710	0.0:0.0:0.6515:0.3485	.	4150	B5ME49	.	T	4150	ENSP00000381008:P4150T	ENSP00000381008:P4150T	P	-	1	0	MUC16	8935998	0.000000	0.05858	0.001000	0.08648	0.393000	0.30537	-1.452000	0.02385	0.279000	0.22186	0.313000	0.20887	CCT		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	74	13	74	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12460784	12460784	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:12460784T>G	ENST00000242804.4	-	6	2197	c.1615A>C	c.(1615-1617)Act>Cct	p.T539P	ZNF442_ENST00000438182.1_Missense_Mutation_p.T470P|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	539					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.T539P(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTCTCTCCAGTGTGAATCCTT	0.383																																						uc002mtr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|kidney(1)	4						c.(1615-1617)ACT>CCT		zinc finger protein 442							88.0	87.0	87.0					19																	12460784		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12460784T>G	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1615A>C	19.37:g.12460784T>G	ENSP00000242804:p.Thr539Pro					ZNF442_uc010xmk.1_Missense_Mutation_p.T470P	p.T539P	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	2226	-			539					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1615A>C	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	8.664	0.901151	0.17760	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.25749	1.78;1.78	0.832	-1.66	0.08265	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32793	0.0841	M	0.64080	1.96	0.19775	N	0.999959	B	0.27380	0.177	B	0.43018	0.405	T	0.52975	-0.8503	9	0.87932	D	0	.	5.9797	0.19401	0.2355:0.0:0.0:0.7645	.	539	Q9H7R0	ZN442_HUMAN	P	539;470	ENSP00000242804:T539P;ENSP00000388634:T470P	ENSP00000242804:T539P	T	-	1	0	ZNF442	12321784	0.715000	0.27946	0.027000	0.17364	0.195000	0.23768	0.084000	0.14891	-1.473000	0.01881	-2.732000	0.00129	ACT		PASS	0.383	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		9	59	9	59	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18321932	18321932	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:18321932T>C	ENST00000355502.3	-	19	2817	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	PDE4C_ENST00000597297.1_Missense_Mutation_p.E419G|PDE4C_ENST00000594617.3_Missense_Mutation_p.E649G|PDE4C_ENST00000262805.12_Missense_Mutation_p.E617G|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.E418G|PDE4C_ENST00000594465.3_Missense_Mutation_p.E649G|PDE4C_ENST00000447275.3_Missense_Mutation_p.E543G|PDE4C_ENST00000598111.2_Missense_Mutation_p.E364G|AC068499.10_ENST00000599416.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	649					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E649G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCCGTCCCGCTCGGGGTTGGT	0.587																																						uc010xqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1945-1947)GAG>GGG		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						125.0	107.0	113.0					19																	18321932		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18321932T>C		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1946A>G	19.37:g.18321932T>C	ENSP00000347689:p.Glu649Gly					PDE4C_uc002nik.3_Missense_Mutation_p.E649G|PDE4C_uc002nil.3_Missense_Mutation_p.E649G|PDE4C_uc002nif.3_Missense_Mutation_p.E418G|PDE4C_uc002nig.3_Missense_Mutation_p.E364G|PDE4C_uc002nih.3_Missense_Mutation_p.E419G|PDE4C_uc010ebk.2_Missense_Mutation_p.E543G|PDE4C_uc002nii.3_Missense_Mutation_p.E617G|PDE4C_uc010ebl.2_Missense_Mutation_p.E363G	p.E649G	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			15	2426	-			649					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1946A>G	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	T	3.442	-0.113810	0.06881	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	3.51	2.4	0.29515	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	4.297340	0.00923	N	0.002601	T	0.56702	0.2003	L	0.41573	1.285	0.09310	N	1	B;B;B;B	0.25007	0.116;0.0;0.027;0.077	B;B;B;B	0.20184	0.022;0.005;0.011;0.028	T	0.43702	-0.9375	10	0.36615	T	0.2	.	3.679	0.08304	0.0:0.2962:0.0:0.7038	.	649;617;455;364	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	G	728;649;637;617;543;455;363;418;758	ENSP00000347689:E649G;ENSP00000262805:E617G;ENSP00000402091:E543G;ENSP00000439470:E418G	ENSP00000262805:E617G	E	-	2	0	PDE4C	18182932	0.008000	0.16893	0.004000	0.12327	0.003000	0.03518	1.528000	0.35985	1.476000	0.48215	0.454000	0.30748	GAG		PASS	0.587	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			8	56	8	56	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19135671	19135671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:19135671C>A	ENST00000601879.1	-	3	1783	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	SUGP2_ENST00000600377.1_Nonsense_Mutation_p.E510*|SUGP2_ENST00000452918.2_Nonsense_Mutation_p.E496*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.E496*|SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000456085.2_Nonsense_Mutation_p.E265*			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	496					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E496*(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AAGATTTTCTCCTGCCGGAAA	0.507																																						uc002nkx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1486-1488)GAG>TAG		splicing factor, arginine/serine-rich 14							100.0	109.0	106.0					19																	19135671		2203	4300	6503	SO:0001587	stop_gained	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19135671C>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1486G>T	19.37:g.19135671C>A	ENSP00000472286:p.Glu496*					SFRS14_uc002nkz.1_Nonsense_Mutation_p.E510*|SFRS14_uc002nla.1_Nonsense_Mutation_p.E496*|SFRS14_uc002nlb.2_Nonsense_Mutation_p.E496*|SFRS14_uc010xqk.1_Nonsense_Mutation_p.E265*	p.E496*	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		3	1632	-			496					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Nonsense_Mutation	SNP	ENST00000601879.1	37	c.1486G>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	38	6.838033	0.97877	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	.	.	.	5.44	4.38	0.52667	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-30.3354	8.8291	0.35074	0.0:0.7694:0.1518:0.0788	.	.	.	.	X	496;496;496;265	.	ENSP00000332373:E496X	E	-	1	0	SUGP2	18996671	1.000000	0.71417	0.997000	0.53966	0.721000	0.41392	3.506000	0.53364	1.263000	0.44181	0.462000	0.41574	GAG		PASS	0.507	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		7	148	7	148	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C	rs201680274		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:23544724T>C	ENST00000300619.7	-	4	1262	c.1057A>G	c.(1057-1059)Aaa>Gaa	p.K353E	ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	353					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K353E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)AAA>GAA		zinc finger protein 91							41.0	44.0	43.0					19																	23544724		2011	4192	6203	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544724T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1057A>G	19.37:g.23544724T>C	ENSP00000300619:p.Lys353Glu					ZNF91_uc010xrj.1_Missense_Mutation_p.K321E	p.K353E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1170	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	353			C2H2-type 8.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1057A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	1.992	-0.431577	0.04669	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07567	3.18;3.18	1.65	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.05158	-0.105	0.09310	N	1	B;B	0.18968	0.032;0.0	B;B	0.15052	0.012;0.003	T	0.43376	-0.9395	9	0.12103	T	0.63	.	0.9503	0.01374	0.1559:0.2641:0.3143:0.2656	.	321;353	Q05481-2;Q05481	.;ZNF91_HUMAN	E	353;321	ENSP00000300619:K353E;ENSP00000380272:K321E	ENSP00000300619:K353E	K	-	1	0	ZNF91	23336564	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-4.975000	0.00164	-1.510000	0.01796	-1.288000	0.01363	AAA		PASS	0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		3	55	3	55	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39088220	39088220	+	Silent	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:39088220G>A	ENST00000591517.1	-	23	1712	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000423454.2_Silent_p.T203T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Silent_p.L558L|MAP4K1_ENST00000396857.2_Silent_p.L562L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	562	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L562L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGAGAATACAGGTGGGGGGTC	0.552																																						uc002oix.1																			2	Substitution - coding silent(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(1684-1686)CTG>TTG		mitogen-activated protein kinase kinase kinase							43.0	44.0	44.0					19																	39088220		1944	4133	6077	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39088220G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1684C>T	19.37:g.39088220G>A						MAP4K1_uc002oiw.1_Silent_p.L149L|MAP4K1_uc002oiy.1_Silent_p.L562L|MAP4K1_uc010xug.1_Silent_p.T203T	p.L562L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		23	1792	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		562			CNH.			Silent	SNP	ENST00000591517.1	37	c.1684C>T	CCDS59385.1																																																																																				PASS	0.552	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		6	24	6	24	---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42566697	42566697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:42566697G>A	ENST00000262895.3	-	4	450	c.451C>T	c.(451-453)Cga>Tga	p.R151*	GRIK5_ENST00000301218.4_Nonsense_Mutation_p.R151*|GRIK5_ENST00000593562.1_Nonsense_Mutation_p.R151*	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	151					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R151*(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTGAGGATTCGGGAGACCGCC	0.577																																						uc002osj.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(451-453)CGA>TGA		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						93.0	91.0	92.0					19																	42566697		2203	4300	6503	SO:0001587	stop_gained	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42566697G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.451C>T	19.37:g.42566697G>A	ENSP00000262895:p.Arg151*					GRIK5_uc010eib.1_Nonsense_Mutation_p.R70*	p.R151*	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			4	486	-		Prostate(69;0.059)	151			Extracellular (Potential).		Q8WWG8	Nonsense_Mutation	SNP	ENST00000262895.3	37	c.451C>T	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981626	0.97168	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	.	.	.	5.19	5.19	0.71726	.	0.374065	0.26213	N	0.025668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	16.2119	0.82168	0.0:0.0:1.0:0.0	.	.	.	.	X	151	.	ENSP00000262895:R151X	R	-	1	2	GRIK5	47258537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.809000	0.47971	2.431000	0.82371	0.551000	0.68910	CGA		PASS	0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			10	45	10	45	---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43243198	43243198	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:43243198G>T	ENST00000327495.5	-	2	292	c.108C>A	c.(106-108)gtC>gtA	p.V36V	PSG3_ENST00000595140.1_Silent_p.V36V|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	36	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.V36V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTCAATCGTGACTTGGGCAG	0.463																																						uc002oue.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(106-108)GTC>GTA		pregnancy specific beta-1-glycoprotein 3							148.0	169.0	162.0					19																	43243198		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43243198G>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.108C>A	19.37:g.43243198G>T						PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.V58V	p.V36V	NM_021016	NP_066296	Q16557	PSG3_HUMAN			2	240	-		Prostate(69;0.00682)	36			Ig-like V-type.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.108C>A	CCDS12611.1																																																																																				PASS	0.463	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		10	65	10	65	---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46842856	46842856	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:46842856G>T	ENST00000377670.4	+	15	2018	c.1987G>T	c.(1987-1989)Gca>Tca	p.A663S	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.A661S|HIF3A_ENST00000339613.2_Missense_Mutation_p.A607S|HIF3A_ENST00000244303.6_Missense_Mutation_p.A594S	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	663					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A661S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCAGCCAAGGGCAGGCTCAGC	0.622																																						uc002peh.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1987-1989)GCA>TCA		hypoxia inducible factor 3, alpha subunit							49.0	57.0	54.0					19																	46842856		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46842856G>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1987G>T	19.37:g.46842856G>T	ENSP00000366898:p.Ala663Ser					HIF3A_uc002pek.2_Missense_Mutation_p.A607S|HIF3A_uc010xxy.1_Missense_Mutation_p.A594S|HIF3A_uc002pel.2_Missense_Mutation_p.A661S	p.A663S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	15	2016	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	663					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1987G>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012256	0.19277	.	.	ENSG00000124440	ENST00000377670;ENST00000244303;ENST00000339613;ENST00000300862	T;T;T;T	0.67523	0.53;-0.27;0.41;0.53	3.9	2.86	0.33363	.	1.244180	0.06038	N	0.654283	T	0.52677	0.1749	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22800	0.075;0.073;0.043	B;B;B	0.22601	0.018;0.04;0.018	T	0.45116	-0.9283	10	0.49607	T	0.09	.	7.5409	0.27737	0.1253:0.0:0.8747:0.0	.	594;661;663	B4DNA2;Q9Y2N7-2;Q9Y2N7	.;.;HIF3A_HUMAN	S	663;594;607;661	ENSP00000366898:A663S;ENSP00000244303:A594S;ENSP00000341877:A607S;ENSP00000300862:A661S	ENSP00000244303:A594S	A	+	1	0	HIF3A	51534696	0.027000	0.19231	0.895000	0.35142	0.133000	0.20885	1.236000	0.32683	0.754000	0.32968	0.491000	0.48974	GCA		PASS	0.622	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			8	32	8	32	---	---	---	---
ELSPBP1	64100	broad.mit.edu	37	19	48525518	48525518	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:48525518G>T	ENST00000339841.2	+	6	784	c.606G>T	c.(604-606)aaG>aaT	p.K202N	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.K54N	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	202	Fibronectin type-II 4. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)		p.K202N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AAGGATCAAAGGAGAACCTTG	0.458																																						uc002pht.2																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)AAG>AAT		epididymal sperm binding protein 1 precursor							175.0	163.0	167.0					19																	48525518		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48525518G>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.606G>T	19.37:g.48525518G>T	ENSP00000340660:p.Lys202Asn						p.K202N	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	6	761	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	202			Fibronectin type-II 4.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.606G>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	G	2.426	-0.332015	0.05314	.	.	ENSG00000169393	ENST00000339841	T	0.48836	0.8	3.66	-1.47	0.08772	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.537728	0.16710	N	0.202727	T	0.21427	0.0516	N	0.12887	0.27	0.09310	N	1	B	0.09022	0.002	B	0.20384	0.029	T	0.17137	-1.0379	10	0.16896	T	0.51	.	4.3421	0.11115	0.4193:0.1671:0.4136:0.0	.	202	Q96BH3	ESPB1_HUMAN	N	202	ENSP00000340660:K202N	ENSP00000340660:K202N	K	+	3	2	ELSPBP1	53217330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.338000	0.07842	-0.280000	0.09154	-0.192000	0.12808	AAG		PASS	0.458	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			5	76	5	76	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51645698	51645698	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:51645698G>T	ENST00000317643.6	+	1	141	c.72G>T	c.(70-72)aaG>aaT	p.K24N	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.K24N|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.K24N	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	24					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.K24N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GTAACCGGAAGGATTACTCGC	0.607																																						uc002pvv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(70-72)AAG>AAT		sialic acid binding Ig-like lectin 7 isoform 1							117.0	78.0	91.0					19																	51645698		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51645698G>T	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.72G>T	19.37:g.51645698G>T	ENSP00000323328:p.Lys24Asn					SIGLEC7_uc002pvw.1_Missense_Mutation_p.K24N|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.K24N	p.K24N	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	1	141	+		all_neural(266;0.0199)	24			Extracellular (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.72G>T	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	1.254	-0.617738	0.03663	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.26373	1.74;1.74;1.74	2.77	-3.52	0.04682	Immunoglobulin-like fold (1);	8.607970	0.00567	N	0.000283	T	0.13114	0.0318	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31241	0.0;0.315;0.001	B;B;B	0.22386	0.003;0.039;0.006	T	0.08027	-1.0742	10	0.41790	T	0.15	.	1.9764	0.03417	0.1267:0.3633:0.3229:0.1871	.	24;24;24	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	N	24	ENSP00000323328:K24N;ENSP00000306757:K24N;ENSP00000437609:K24N	ENSP00000306757:K24N	K	+	3	2	SIGLEC7	56337510	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.333000	0.19768	-0.730000	0.04869	-1.299000	0.01334	AAG		PASS	0.607	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		6	22	6	22	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55087509	55087509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:55087509C>A	ENST00000251377.3	+	7	1321	c.1188C>A	c.(1186-1188)taC>taA	p.Y396*	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.Y396*|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.Y396*|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.Y384*|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	396	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Y396*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACAGATGCTACAGCTCACTCA	0.602																																						uc002qgg.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1186-1188)TAC>TAA		leukocyte immunoglobulin-like receptor,							125.0	106.0	112.0					19																	55087509		2203	4300	6503	SO:0001587	stop_gained	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087509C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1188C>A	19.37:g.55087509C>A	ENSP00000251377:p.Tyr396*					LILRA2_uc010ern.2_Nonsense_Mutation_p.Y396*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.Y396*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.Y396*|LILRA2_uc010yff.1_Nonsense_Mutation_p.Y384*|LILRA2_uc010ero.2_Nonsense_Mutation_p.Y384*|LILRA2_uc010yfg.1_Intron	p.Y396*	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1277	+			396			Ig-like C2-type 4.|Extracellular (Potential).		O75020	Nonsense_Mutation	SNP	ENST00000251377.3	37	c.1188C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052890	0.55218	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.42	-4.84	0.03151	.	0.317422	0.17562	U	0.169764	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5679	0.45184	0.0:0.7181:0.0:0.2819	.	.	.	.	X	396;396;396;384	.	.	Y	+	3	2	LILRA2	59779321	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-0.915000	0.04033	-1.395000	0.02074	-0.944000	0.02675	TAC		PASS	0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			14	99	14	99	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55435122	55435122	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:55435122C>A	ENST00000590030.1	-	9	2969	c.2929G>T	c.(2929-2931)Gac>Tac	p.D977Y	NLRP7_ENST00000340844.2_Missense_Mutation_p.D977Y|NLRP7_ENST00000588756.1_Missense_Mutation_p.D1034Y|NLRP7_ENST00000446217.1_Missense_Mutation_p.D1062Y|NLRP7_ENST00000328092.5_Missense_Mutation_p.D1006Y|NLRP7_ENST00000592784.1_Missense_Mutation_p.D1034Y|NLRP7_ENST00000448121.2_Missense_Mutation_p.D1006Y			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	977							ATP binding (GO:0005524)	p.D1006Y(1)|p.D1034Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAAAAAAAGTCACAGCACGGA	0.473																																						uc002qih.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2929-2931)GAC>TAC		NACHT, leucine rich repeat and PYD containing 7							107.0	107.0	107.0					19																	55435122		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55435122C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2929G>T	19.37:g.55435122C>A	ENSP00000465520:p.Asp977Tyr					NLRP7_uc002qig.3_Missense_Mutation_p.D1006Y|NLRP7_uc002qii.3_Missense_Mutation_p.D1034Y|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Missense_Mutation_p.D1062Y	p.D977Y	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	3005	-			977					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2929G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343119	0.24339	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T	0.75589	-0.85;-0.92;-0.95	1.93	-1.87	0.07737	.	.	.	.	.	T	0.74465	0.3720	L	0.50333	1.59	0.09310	N	1	D;B;B	0.89917	1.0;0.347;0.036	D;B;B	0.65987	0.94;0.063;0.021	T	0.61724	-0.7004	9	0.52906	T	0.07	.	0.7433	0.00977	0.2663:0.3551:0.2181:0.1606	.	1062;977;1006	E7EPM2;Q8WX94;Q8WX94-2	.;NALP7_HUMAN;.	Y	1034;1006;977;1062	ENSP00000409137:D1006Y;ENSP00000339491:D977Y;ENSP00000414273:D1062Y	ENSP00000329568:D1034Y	D	-	1	0	NLRP7	60126934	0.002000	0.14202	0.008000	0.14137	0.001000	0.01503	0.126000	0.15769	-0.389000	0.07786	-1.069000	0.02264	GAC		PASS	0.473	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		13	67	13	67	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56382329	56382329	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:56382329T>A	ENST00000301295.6	+	7	2913	c.2491T>A	c.(2491-2493)Ttg>Atg	p.L831M	NLRP4_ENST00000346986.5_Missense_Mutation_p.L775M|NLRP4_ENST00000587891.1_Missense_Mutation_p.L756M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	831					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L831M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGCGAGGCCTTGAAACATCC	0.493																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2491-2493)TTG>ATG		NLR family, pyrin domain containing 4							111.0	101.0	104.0					19																	56382329		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382329T>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2491T>A	19.37:g.56382329T>A	ENSP00000301295:p.Leu831Met					NLRP4_uc002qmf.2_Missense_Mutation_p.L756M|NLRP4_uc010etf.2_Missense_Mutation_p.L606M	p.L831M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2913	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	831			LRR 5.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2491T>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311375	0.40895	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.70631	-0.5;2.89	3.9	-4.42	0.03579	.	.	.	.	.	T	0.79969	0.4538	M	0.85945	2.785	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.69015	-0.5257	9	0.51188	T	0.08	.	4.4023	0.11392	0.1651:0.3111:0.0:0.5238	.	775;756;831	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	831;775	ENSP00000301295:L831M;ENSP00000344787:L775M	ENSP00000301295:L831M	L	+	1	2	NLRP4	61074141	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.703000	0.01900	-0.479000	0.06813	-0.917000	0.02746	TTG		PASS	0.493	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		11	78	11	78	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423244	56423244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:56423244C>A	ENST00000342929.3	-	5	1938	c.1939G>T	c.(1939-1941)Gag>Tag	p.E647*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.E647*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	647							ATP binding (GO:0005524)	p.E647*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGTCTTCCTCCTGGGACTCG	0.423																																						uc010ygg.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1939-1941)GAG>TAG		NACHT, leucine rich repeat and PYD containing							103.0	98.0	100.0					19																	56423244		2203	4300	6503	SO:0001587	stop_gained	126204						ATP binding	g.chr19:56423244C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1939G>T	19.37:g.56423244C>A	ENSP00000343891:p.Glu647*						p.E647*	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1964	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	647					Q7RTR5	Nonsense_Mutation	SNP	ENST00000342929.3	37	c.1939G>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090358	0.94149	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.0117	0.36146	0.0:1.0:0.0:0.0	.	.	.	.	X	647	.	ENSP00000343891:E647X	E	-	1	0	NLRP13	61115056	0.741000	0.28217	0.494000	0.27515	0.097000	0.18754	3.551000	0.53698	1.363000	0.46019	0.543000	0.68304	GAG		PASS	0.423	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		5	70	5	70	---	---	---	---
ZNF274	10782	broad.mit.edu	37	19	58723027	58723027	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:58723027G>C	ENST00000326804.4	+	8	1410	c.951G>C	c.(949-951)gaG>gaC	p.E317D	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.E285D|ZNF274_ENST00000424679.2_Missense_Mutation_p.E212D	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	318	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E285D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGATGCTGGAGACCTTTGGGC	0.632																																						uc002qrq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)GAG>GAC		zinc finger protein 274 isoform c							91.0	106.0	101.0					19																	58723027		2195	4300	6495	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723027G>C	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.951G>C	19.37:g.58723027G>C	ENSP00000321209:p.Glu317Asp					ZNF274_uc002qrr.1_Missense_Mutation_p.E286D|ZNF274_uc002qrs.1_Missense_Mutation_p.E213D|ZNF274_uc010eum.1_Missense_Mutation_p.E77D	p.E318D	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	9	1413	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	318			KRAB 2.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.954G>C		.	.	.	.	.	.	.	.	.	.	G	15.24	2.773703	0.49786	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.03920	3.76;3.76;3.76	5.17	1.75	0.24633	Krueppel-associated box (4);	0.000000	0.36034	N	0.002825	T	0.14743	0.0356	.	.	.	0.27764	N	0.943725	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.994;0.997	T	0.01930	-1.1245	9	0.66056	D	0.02	-15.5906	6.8574	0.24048	0.306:0.0:0.694:0.0	.	213;286;318	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	D	317;285;212	ENSP00000321209:E317D;ENSP00000321187:E285D;ENSP00000409872:E212D	ENSP00000321209:E317D	E	+	3	2	ZNF274	63414839	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	1.092000	0.30927	0.288000	0.22398	0.563000	0.77884	GAG		PASS	0.632	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		4	57	4	57	---	---	---	---
SLC27A5	10998	broad.mit.edu	37	19	59010941	59010941	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr19:59010941C>A	ENST00000263093.2	-	7	1694	c.1585G>T	c.(1585-1587)Gtt>Ttt	p.V529F	SLC27A5_ENST00000601355.1_Missense_Mutation_p.V445F|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	529					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V529F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TTGTAGTAAACGTCGCCCGAT	0.647																																						uc002qtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1585-1587)GTT>TTT		solute carrier family 27 (fatty acid							95.0	88.0	90.0					19																	59010941		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010941C>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1585G>T	19.37:g.59010941C>A	ENSP00000263093:p.Val529Phe					SLC27A5_uc002qtb.2_5'Flank	p.V529F	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	7	1695	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	529			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1585G>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463147	0.63513	.	.	ENSG00000083807	ENST00000263093	T	0.48836	0.8	5.26	-3.56	0.04626	AMP-dependent synthetase/ligase (1);	0.709445	0.13601	N	0.375896	T	0.41926	0.1180	M	0.81112	2.525	0.27779	N	0.943225	B	0.31817	0.341	B	0.35931	0.214	T	0.47129	-0.9141	10	0.52906	T	0.07	-6.424	1.2272	0.01936	0.1324:0.2796:0.3023:0.2856	.	529	Q9Y2P5	S27A5_HUMAN	F	529	ENSP00000263093:V529F	ENSP00000263093:V529F	V	-	1	0	SLC27A5	63702753	0.000000	0.05858	0.902000	0.35471	0.904000	0.53231	-1.635000	0.02018	-0.273000	0.09246	0.462000	0.41574	GTT		PASS	0.647	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		7	46	7	46	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18516382	18516382	+	Missense_Mutation	SNP	A	A	G	rs150210442		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr20:18516382A>G	ENST00000336714.3	+	12	1832	c.1400A>G	c.(1399-1401)aAt>aGt	p.N467S	SEC23B_ENST00000377465.1_Missense_Mutation_p.N467S|SEC23B_ENST00000262544.2_Missense_Mutation_p.N467S|SEC23B_ENST00000377475.3_Missense_Mutation_p.N467S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	467					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.N467S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GAAGTTGTCAATCAGGTGAGT	0.438																																						uc002wqz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1399-1401)AAT>AGT		Sec23 homolog B		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	228.0	177.0	194.0		1400,1346,1400,1400,1400	4.0	1.0	20	dbSNP_134	194	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SEC23B	NM_001172745.1,NM_001172746.1,NM_006363.4,NM_032985.4,NM_032986.3	46,46,46,46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	467/768,449/750,467/768,467/768,467/768	18516382	1,13005	2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18516382A>G	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1400A>G	20.37:g.18516382A>G	ENSP00000338844:p.Asn467Ser					SEC23B_uc002wra.1_Missense_Mutation_p.N467S|SEC23B_uc002wrb.1_Missense_Mutation_p.N467S|SEC23B_uc010zsb.1_Missense_Mutation_p.N449S|SEC23B_uc002wrc.1_Missense_Mutation_p.N467S	p.N467S	NM_006363	NP_006354	Q15437	SC23B_HUMAN			12	1843	+			467					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1400A>G	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539318	0.65085	2.27E-4	0.0	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.07	3.98	0.46160	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.82889	0.5135	M	0.71871	2.18	0.80722	D	1	P;B	0.41159	0.74;0.051	P;B	0.44673	0.457;0.088	T	0.80553	-0.1331	10	0.36615	T	0.2	-21.6048	10.3487	0.43922	0.9231:0.0:0.0769:0.0	.	449;467	B4DJW8;Q15437	.;SC23B_HUMAN	S	467	ENSP00000338844:N467S;ENSP00000262544:N467S;ENSP00000366695:N467S;ENSP00000366685:N467S	ENSP00000262544:N467S	N	+	2	0	SEC23B	18464382	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.124000	0.64709	1.060000	0.40578	0.528000	0.53228	AAT		PASS	0.438	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			9	37	9	37	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23472308	23472308	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr20:23472308C>G	ENST00000246012.1	+	2	361	c.4C>G	c.(4-6)Ccc>Gcc	p.P2A		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	2					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.P2A(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGGACCATGCCCAGGTGCCG	0.612																																						uc002wth.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)CCC>GCC		cystatin 8 precursor							119.0	103.0	109.0					20																	23472308		2203	4300	6503	SO:0001583	missense	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472308C>G	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.4C>G	20.37:g.23472308C>G	ENSP00000246012:p.Pro2Ala						p.P2A	NM_005492	NP_005483	O60676	CST8_HUMAN			2	361	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		2					Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	c.4C>G	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	C	2.535	-0.307609	0.05458	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.09630	2.96;3.23	4.05	-1.1	0.09872	.	1.323340	0.04904	N	0.451766	T	0.03739	0.0106	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	10	0.02654	T	1	-6.2539	1.8544	0.03175	0.4068:0.3431:0.0976:0.1525	.	2	O60676	CST8_HUMAN	A	2	ENSP00000399144:P2A;ENSP00000246012:P2A	ENSP00000246012:P2A	P	+	1	0	CST8	23420308	0.244000	0.23889	0.066000	0.19879	0.013000	0.08279	0.341000	0.19909	-0.223000	0.09943	-1.047000	0.02352	CCC		PASS	0.612	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			14	66	14	66	---	---	---	---
ENTPD6	955	broad.mit.edu	37	20	25187731	25187731	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr20:25187731G>T	ENST00000376652.4	+	3	237	c.74G>T	c.(73-75)tGg>tTg	p.W25L	ENTPD6_ENST00000360031.2_Missense_Mutation_p.W24L|ENTPD6_ENST00000354989.5_Missense_Mutation_p.W8L|ENTPD6_ENST00000433259.2_Missense_Mutation_p.W25L			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	25					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.W25L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CACGGTCCTTGGCAAACAAGG	0.607																																						uc002wuj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)TGG>TTG		ectonucleoside triphosphate diphosphohydrolase 6							49.0	54.0	53.0					20																	25187731		2203	4300	6503	SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25187731G>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.74G>T	20.37:g.25187731G>T	ENSP00000365840:p.Trp25Leu					ENTPD6_uc010zsy.1_Missense_Mutation_p.W25L|ENTPD6_uc010gdj.1_5'UTR|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.W8L|ENTPD6_uc010zta.1_Missense_Mutation_p.W25L|ENTPD6_uc002wun.2_Missense_Mutation_p.W25L|ENTPD6_uc002wuk.2_Missense_Mutation_p.W24L|ENTPD6_uc002wul.2_Missense_Mutation_p.W24L|ENTPD6_uc010ztb.1_5'UTR|ENTPD6_uc010ztc.1_5'UTR|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank	p.W25L	NM_001247	NP_001238	O75354	ENTP6_HUMAN			3	254	+			25			Cytoplasmic (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.74G>T	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118823	0.37436	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000435520;ENST00000418890;ENST00000425813	T;T;T;T;T;T;T;T;T	0.32023	2.22;2.37;2.29;1.83;1.47;2.05;1.58;1.48;2.43	4.95	-9.27	0.00659	.	6.133080	0.00357	N	0.000020	T	0.13628	0.0330	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.002;0.004;0.002;0.004;0.002;0.002;0.002	B;B;B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.002;0.001;0.001	T	0.34700	-0.9818	10	0.02654	T	1	-0.8815	7.3324	0.26590	0.4636:0.3651:0.1713:0.0	.	25;25;25;8;24;24;25	B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.;.;.;.;.;.;ENTP6_HUMAN	L	8;24;25;7;7;25;24;8;25	ENSP00000347084:W8L;ENSP00000353131:W24L;ENSP00000365840:W25L;ENSP00000408098:W7L;ENSP00000395064:W7L;ENSP00000401895:W25L;ENSP00000398844:W24L;ENSP00000390511:W8L;ENSP00000390646:W25L	ENSP00000347084:W8L	W	+	2	0	ENTPD6	25135731	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.205000	0.09411	-1.292000	0.02366	0.462000	0.41574	TGG		PASS	0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			5	45	5	45	---	---	---	---
SNAI1	6615	broad.mit.edu	37	20	48600466	48600466	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr20:48600466C>G	ENST00000244050.2	+	2	249	c.188C>G	c.(187-189)tCt>tGt	p.S63C		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	63					cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.S63C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATCTGGGACTCTGTCCTGGCG	0.652																																						uc002xuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)TCT>TGT		snail 1 homolog							49.0	53.0	51.0					20																	48600466		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600466C>G	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.188C>G	20.37:g.48600466C>G	ENSP00000244050:p.Ser63Cys						p.S63C	NM_005985	NP_005976	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	258	+			63					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.188C>G	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575011	0.65878	.	.	ENSG00000124216	ENST00000244050	T	0.25912	1.77	4.94	1.68	0.24146	.	1.124660	0.06539	N	0.742935	T	0.26882	0.0658	L	0.52573	1.65	0.25869	N	0.983731	B	0.02656	0.0	B	0.04013	0.001	T	0.30592	-0.9973	10	0.40728	T	0.16	-9.8998	11.9421	0.52907	0.1233:0.6372:0.2395:0.0	.	63	O95863	SNAI1_HUMAN	C	63	ENSP00000244050:S63C	ENSP00000244050:S63C	S	+	2	0	SNAI1	48033873	0.046000	0.20272	0.990000	0.47175	0.934000	0.57294	1.924000	0.40065	1.053000	0.40415	0.557000	0.71058	TCT		PASS	0.652	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			8	33	8	33	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61541126	61541126	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr20:61541126T>G	ENST00000266070.4	-	4	1411	c.1086A>C	c.(1084-1086)gaA>gaC	p.E362D	DIDO1_ENST00000395343.1_Missense_Mutation_p.E362D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E362D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E362D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E362D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E362D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E362D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E362D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E362D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	362					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E362D(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCCTTGGTCTTCGCTAGACT	0.458																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)	6						c.(1084-1086)GAA>GAC		death inducer-obliterator 1 isoform c							250.0	236.0	241.0					20																	61541126		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541126T>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1086A>C	20.37:g.61541126T>G	ENSP00000266070:p.Glu362Asp					DIDO1_uc002yds.1_Missense_Mutation_p.E362D|DIDO1_uc002ydt.1_Missense_Mutation_p.E362D|DIDO1_uc002ydu.1_Missense_Mutation_p.E362D|DIDO1_uc002ydv.1_Missense_Mutation_p.E362D|DIDO1_uc002ydw.1_Missense_Mutation_p.E362D|DIDO1_uc002ydx.1_Missense_Mutation_p.E362D|DIDO1_uc011aao.1_Missense_Mutation_p.E362D	p.E362D	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			4	1350	-	Breast(26;5.68e-08)		362					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1086A>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	9.286	1.049326	0.19827	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19669	3.0;3.0;2.66;2.66;2.14;2.14;2.14;2.13;2.13	5.35	-5.98	0.02220	.	0.000000	0.43919	D	0.000515	T	0.23289	0.0563	L	0.41710	1.295	0.42692	D	0.993589	P;P;B;D	0.69078	0.49;0.804;0.38;0.997	B;B;B;D	0.72625	0.397;0.325;0.114;0.978	T	0.43032	-0.9416	10	0.13853	T	0.58	-27.6926	8.2299	0.31593	0.111:0.5883:0.1132:0.1875	.	362;362;362;362	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	D	362	ENSP00000266070:E362D;ENSP00000378752:E362D;ENSP00000378749:E362D;ENSP00000378744:E362D;ENSP00000359397:E362D;ENSP00000359394:E362D;ENSP00000346692:E362D;ENSP00000359391:E362D;ENSP00000266071:E362D	ENSP00000266070:E362D	E	-	3	2	DIDO1	61011571	0.333000	0.24731	0.543000	0.28128	0.026000	0.11368	-0.432000	0.06956	-1.211000	0.02624	-0.451000	0.05528	GAA		PASS	0.458	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		23	154	23	154	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30304833	30304833	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr21:30304833G>T	ENST00000361371.5	-	28	5108	c.5029C>A	c.(5029-5031)Cgg>Agg	p.R1677R	LTN1_ENST00000389194.2_Silent_p.R1723R			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1677					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R1677R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATCCAGTTCCGCCACTGCTGA	0.378																																						uc002ymr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(5167-5169)CGG>AGG		zinc finger protein 294							211.0	209.0	210.0					21																	30304833		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30304833G>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5029C>A	21.37:g.30304833G>T							p.R1723R	NM_015565	NP_056380	O94822	LTN1_HUMAN			28	5180	-			1677					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.5167C>A																																																																																					PASS	0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		5	172	5	172	---	---	---	---
SLC37A1	54020	broad.mit.edu	37	21	43959738	43959738	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr21:43959738G>T	ENST00000352133.2	+	6	1449	c.467G>T	c.(466-468)gGa>gTa	p.G156V	SLC37A1_ENST00000398341.3_Missense_Mutation_p.G156V			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	156					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.G156V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CACAGTTTCGGATTCTACGTG	0.522																																						uc002zbi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)GGA>GTA		solute carrier family 37 member 1							120.0	100.0	107.0					21																	43959738		2203	4300	6503	SO:0001583	missense	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43959738G>T	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.467G>T	21.37:g.43959738G>T	ENSP00000344648:p.Gly156Val					SLC37A1_uc002zbj.2_Missense_Mutation_p.G156V	p.G156V	NM_018964	NP_061837	P57057	GLPT_HUMAN			7	879	+			156					D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	c.467G>T	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066838	0.20067	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.57595	0.39;0.39	4.71	3.8	0.43715	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.317119	0.34959	N	0.003560	T	0.48554	0.1506	L	0.56199	1.76	0.21675	N	0.999592	B	0.18741	0.03	B	0.29440	0.102	T	0.36890	-0.9729	10	0.19590	T	0.45	-21.7671	13.2912	0.60272	0.0:0.304:0.696:0.0	.	156	P57057	GLPT_HUMAN	V	156	ENSP00000381383:G156V;ENSP00000344648:G156V	ENSP00000344648:G156V	G	+	2	0	SLC37A1	42832807	0.335000	0.24748	0.056000	0.19401	0.992000	0.81027	2.899000	0.48679	0.945000	0.37605	0.555000	0.69702	GGA		PASS	0.522	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			6	51	6	51	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46021203	46021203	+	Missense_Mutation	SNP	C	C	T	rs672479		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr21:46021203C>T	ENST00000380102.2	+	1	707	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	228	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CACCTCCTCCCCCTGCCAGCA	0.652																																						uc002zfn.3																			0					0						c.(667-669)CCT>TCT		keratin associated protein 10-7							96.0	96.0	96.0					21																	46021203		2203	4299	6502	SO:0001583	missense	386675					keratin filament		g.chr21:46021203C>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.682C>T	21.37:g.46021203C>T	ENSP00000369445:p.Pro228Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P223S	NM_198689	NP_941962	P60409	KR107_HUMAN			2	692	+			228			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.667C>T		.	.	.	.	.	.	.	.	.	.	N	1.397	-0.579165	0.03854	.	.	ENSG00000205441	ENST00000380102	T	0.01209	5.17	3.75	0.813	0.18749	.	.	.	.	.	T	0.01092	0.0036	L	0.39085	1.19	0.24883	N	0.992219	P	0.37441	0.595	B	0.34590	0.186	T	0.50608	-0.8808	9	0.24483	T	0.36	.	7.0179	0.24899	0.0:0.6682:0.0:0.3318	rs672479	223	P60409-2	.	S	228	ENSP00000369445:P228S	ENSP00000369445:P228S	P	+	1	0	KRTAP10-7	44845631	0.008000	0.16893	0.729000	0.30791	0.020000	0.10135	0.096000	0.15147	0.208000	0.20626	-0.472000	0.04984	CCC		PASS	0.652	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		8	84	8	84	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26423089	26423089	+	Silent	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr22:26423089G>T	ENST00000407587.2	+	43	7321	c.7152G>T	c.(7150-7152)cgG>cgT	p.R2384R	MYO18B_ENST00000335473.7_Silent_p.R2383R|MYO18B_ENST00000536101.1_Silent_p.R2383R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2383						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2384R(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCGTCCTCGGAGGCGGTGTC	0.602																																						uc003abz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7147-7149)CGG>CGT		myosin XVIIIB							76.0	82.0	80.0					22																	26423089		1986	4157	6143	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423089G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7152G>T	22.37:g.26423089G>T						MYO18B_uc003aca.1_Silent_p.R2264R|MYO18B_uc010guy.1_Silent_p.R2265R|MYO18B_uc010guz.1_Silent_p.R2263R|MYO18B_uc011aka.1_Silent_p.R1537R|MYO18B_uc011akb.1_Silent_p.R1896R|MYO18B_uc010gva.1_Silent_p.R366R|MYO18B_uc010gvb.1_RNA	p.R2383R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7399	+			2383					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7149G>T		.	.	.	.	.	.	.	.	.	.	G	3.666	-0.068529	0.07228	.	.	ENSG00000133454	ENST00000543971	.	.	.	4.59	3.56	0.40772	.	.	.	.	.	T	0.67813	0.2933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66606	-0.5881	4	.	.	.	.	13.5173	0.61547	0.0:0.1579:0.8421:0.0	.	.	.	.	V	333	.	.	G	+	2	0	MYO18B	24753089	1.000000	0.71417	0.977000	0.42913	0.269000	0.26545	1.707000	0.37888	1.144000	0.42321	-0.304000	0.09214	GGA		PASS	0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		15	57	15	57	---	---	---	---
SEC14L2	23541	broad.mit.edu	37	22	30818328	30818328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr22:30818328G>T	ENST00000312932.9	+	12	1404	c.1144G>T	c.(1144-1146)Gag>Tag	p.E382*	SEC14L2_ENST00000403484.1_Nonsense_Mutation_p.E308*|RP4-539M6.19_ENST00000439838.1_Intron|SEC14L2_ENST00000402592.3_Nonsense_Mutation_p.E299*|RP4-539M6.21_ENST00000608952.1_RNA|RNU6-564P_ENST00000410983.1_RNA|RP4-539M6.20_ENST00000608677.1_RNA	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	382	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.E382*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTTCACTGTGGAGGTCCTGCT	0.522																																						uc003ahr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1144-1146)GAG>TAG		SEC14-like 2 isoform 1	Vitamin E(DB00163)						103.0	98.0	100.0					22																	30818328		2203	4300	6503	SO:0001587	stop_gained	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30818328G>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.1144G>T	22.37:g.30818328G>T	ENSP00000316203:p.Glu382*					SEC14L2_uc011akx.1_Nonsense_Mutation_p.E328*|SEC14L2_uc003ahs.2_Nonsense_Mutation_p.E308*|SEC14L2_uc011aky.1_Nonsense_Mutation_p.E299*|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Intron|MTP18_uc010gvy.1_Intron	p.E382*	NM_012429	NP_036561	O76054	S14L2_HUMAN			12	1317	+			382			GOLD.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Nonsense_Mutation	SNP	ENST00000312932.9	37	c.1144G>T	CCDS13876.1	.	.	.	.	.	.	.	.	.	.	G	40	7.925644	0.98565	.	.	ENSG00000100003	ENST00000312932;ENST00000403484;ENST00000402592	.	.	.	5.09	5.09	0.68999	.	0.054565	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.0976	18.2843	0.90108	0.0:0.0:1.0:0.0	.	.	.	.	X	382;308;299	.	ENSP00000316203:E382X	E	+	1	0	SEC14L2	29148328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.163000	0.77524	2.656000	0.90262	0.650000	0.86243	GAG		PASS	0.522	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		6	59	6	59	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37027657	37027657	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:37027657C>G	ENST00000358047.3	+	1	1226	c.1174C>G	c.(1174-1176)Cca>Gca	p.P392A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	392								p.P392A(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCTCTCCGCCCAGAGACCCC	0.612																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1174-1176)CCA>GCA		hypothetical protein LOC442444							55.0	57.0	56.0					X																	37027657		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027657C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1174C>G	X.37:g.37027657C>G	ENSP00000367913:p.Pro392Ala						p.P392A	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1188	+			392					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1174C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	12.64	1.999438	0.35320	.	.	ENSG00000198173	ENST00000358047	T	0.21734	1.99	1.23	1.23	0.21249	.	.	.	.	.	T	0.20659	0.0497	M	0.76574	2.34	0.20926	N	0.99983	B	0.33044	0.395	B	0.27076	0.076	T	0.14008	-1.0488	9	0.27082	T	0.32	.	8.2388	0.31645	0.0:1.0:0.0:0.0	.	392	Q5HY64	FA47C_HUMAN	A	392	ENSP00000367913:P392A	ENSP00000367913:P392A	P	+	1	0	FAM47C	36937578	0.390000	0.25213	0.007000	0.13788	0.004000	0.04260	2.815000	0.48018	0.487000	0.27698	0.183000	0.17082	CCA		PASS	0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	15	3	15	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49067838	49067838	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:49067838C>A	ENST00000376265.2	-	36	4298	c.4237G>T	c.(4237-4239)Ggt>Tgt	p.G1413C	CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1402C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1348C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1413	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G1413C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AAATTGCTACCACAGGTAAAC	0.537																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4237-4239)GGT>TGT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						119.0	91.0	101.0					X																	49067838		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49067838C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4237G>T	X.37:g.49067838C>A	ENSP00000365441:p.Gly1413Cys					CACNA1F_uc010nip.2_Missense_Mutation_p.G1402C	p.G1413C	NM_005183	NP_005174	O60840	CAC1F_HUMAN			36	4299	-			1413			Phenylalkylamine binding (By similarity).|Extracellular (Potential).|IV.|Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.4237G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098222	0.76870	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98701	-5.08;-5.08;-5.08	5.4	5.4	0.78164	Ion transport (1);	0.048575	0.85682	N	0.000000	D	0.99444	0.9803	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98348	1.0542	10	0.87932	D	0	.	16.9052	0.86124	0.0:1.0:0.0:0.0	.	1402;1413	F5CIQ9;O60840	.;CAC1F_HUMAN	C	1348;1402;1413	ENSP00000365427:G1348C;ENSP00000321618:G1402C;ENSP00000365441:G1413C	ENSP00000321618:G1402C	G	-	1	0	CACNA1F	48954782	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	7.676000	0.84012	2.254000	0.74563	0.523000	0.50628	GGT		PASS	0.537	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		4	31	4	31	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65392409	65392409	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:65392409C>G	ENST00000343002.2	+	2	1044	c.380C>G	c.(379-381)cCt>cGt	p.P127R	HEPH_ENST00000519389.1_Missense_Mutation_p.P181R|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000441993.2_Missense_Mutation_p.P130R|HEPH_ENST00000374727.3_Missense_Mutation_p.P130R|HEPH_ENST00000419594.1_Missense_Mutation_p.P130R			Q9BQS7	HEPH_HUMAN	hephaestin	127	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.P127R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ACCATCCACCCTCATGGTGTC	0.493																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(388-390)CCT>CGT		hephaestin isoform a							95.0	91.0	92.0					X																	65392409		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65392409C>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.380C>G	X.37:g.65392409C>G	ENSP00000343939:p.Pro127Arg					HEPH_uc004dwn.2_Missense_Mutation_p.P130R|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.P130R|HEPH_uc011mpa.1_Missense_Mutation_p.P130R	p.P130R	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			3	449	+			127			Extracellular (Potential).|Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.389C>G		.	.	.	.	.	.	.	.	.	.	C	17.25	3.342580	0.61073	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92;-5.92;-5.92;-5.92	4.83	4.83	0.62350	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.95745	3.715	0.49299	D	0.999776	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.995;1.0	D	0.97538	1.0084	10	0.66056	D	0.02	.	15.5215	0.75869	0.0:1.0:0.0:0.0	.	181;130;127	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	R	181;130;127;130;130;127;127	ENSP00000430620:P181R;ENSP00000363859:P130R;ENSP00000396907:P127R;ENSP00000411687:P130R;ENSP00000413211:P130R;ENSP00000343939:P127R;ENSP00000398078:P127R	ENSP00000343939:P127R	P	+	2	0	HEPH	65309134	1.000000	0.71417	0.789000	0.31954	0.294000	0.27393	7.522000	0.81844	2.226000	0.72624	0.594000	0.82650	CCT		PASS	0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	31	5	31	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65427122	65427122	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:65427122A>G	ENST00000343002.2	+	13	3041	c.2377A>G	c.(2377-2379)Aca>Gca	p.T793A	HEPH_ENST00000519389.1_Missense_Mutation_p.T847A|HEPH_ENST00000336279.5_Missense_Mutation_p.T526A|HEPH_ENST00000441993.2_Missense_Mutation_p.T796A|HEPH_ENST00000374727.3_Missense_Mutation_p.T796A|HEPH_ENST00000419594.1_Missense_Mutation_p.T604A			Q9BQS7	HEPH_HUMAN	hephaestin	793	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.T793A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CACTGATGGTACATTCAGGAT	0.468																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2386-2388)ACA>GCA		hephaestin isoform a							121.0	99.0	107.0					X																	65427122		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427122A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2377A>G	X.37:g.65427122A>G	ENSP00000343939:p.Thr793Ala					HEPH_uc004dwn.2_Missense_Mutation_p.T796A|HEPH_uc004dwo.2_Missense_Mutation_p.T526A|HEPH_uc010nkr.2_Missense_Mutation_p.T604A|HEPH_uc011mpa.1_Missense_Mutation_p.T796A|HEPH_uc010nks.2_Missense_Mutation_p.T85A	p.T796A	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			14	2446	+			793			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2386A>G		.	.	.	.	.	.	.	.	.	.	A	17.04	3.287894	0.59976	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99060	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.38	4.85	3.64	0.41730	Cupredoxin (2);	0.116424	0.56097	D	0.000021	D	0.98673	0.9555	M	0.89601	3.045	0.29608	N	0.847173	P;B;P;P	0.51933	0.882;0.38;0.777;0.949	B;B;B;P	0.50490	0.41;0.117;0.25;0.642	D	0.97165	0.9840	10	0.66056	D	0.02	.	5.5303	0.16980	0.6482:0.1775:0.0:0.1743	.	847;193;604;793	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	A	847;796;526;796;604;793;750	ENSP00000430620:T847A;ENSP00000363859:T796A;ENSP00000337418:T526A;ENSP00000411687:T796A;ENSP00000413211:T604A;ENSP00000343939:T793A;ENSP00000398078:T750A	ENSP00000337418:T526A	T	+	1	0	HEPH	65343847	0.913000	0.31002	0.999000	0.59377	0.995000	0.86356	3.484000	0.53201	0.643000	0.30638	0.441000	0.28932	ACA		PASS	0.468	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	15	5	15	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65427158	65427158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:65427158G>T	ENST00000343002.2	+	13	3077	c.2413G>T	c.(2413-2415)Gaa>Taa	p.E805*	HEPH_ENST00000519389.1_Nonsense_Mutation_p.E859*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.E538*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.E808*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.E808*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.E616*			Q9BQS7	HEPH_HUMAN	hephaestin	805	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.E805*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGACCAGAAGAACACTTGGG	0.493																																						uc011moz.1																			1	Substitution - Nonsense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2422-2424)GAA>TAA		hephaestin isoform a							100.0	83.0	89.0					X																	65427158		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427158G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2413G>T	X.37:g.65427158G>T	ENSP00000343939:p.Glu805*					HEPH_uc004dwn.2_Nonsense_Mutation_p.E808*|HEPH_uc004dwo.2_Nonsense_Mutation_p.E538*|HEPH_uc010nkr.2_Nonsense_Mutation_p.E616*|HEPH_uc011mpa.1_Nonsense_Mutation_p.E808*|HEPH_uc010nks.2_Nonsense_Mutation_p.E97*	p.E808*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			14	2482	+			805			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.2422G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.949084	0.97956	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	.	.	.	4.85	3.99	0.46301	.	0.262025	0.36778	N	0.002410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	10.8802	0.46933	0.0944:0.0:0.9056:0.0	.	.	.	.	X	859;808;538;808;616;805;762	.	ENSP00000337418:E538X	E	+	1	0	HEPH	65343883	0.998000	0.40836	0.415000	0.26534	0.884000	0.51177	2.322000	0.43814	1.041000	0.40125	0.544000	0.68410	GAA		PASS	0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		4	17	4	17	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128462	83128462	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:83128462T>C	ENST00000329312.4	+	4	783	c.746T>C	c.(745-747)aTg>aCg	p.M249T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	249					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.M248T(1)|p.M249T(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GATTTCCTCATGTTAGTGGGA	0.313																																						uc004eei.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(745-747)ATG>ACG		cylicin, basic protein of sperm head							39.0	37.0	38.0					X																	83128462		2193	4293	6486	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128462T>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.746T>C	X.37:g.83128462T>C	ENSP00000331556:p.Met249Thr					CYLC1_uc004eeh.1_Missense_Mutation_p.M248T	p.M249T	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	767	+			249					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.746T>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	9.956	1.221431	0.22457	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.48201	0.82	4.65	4.65	0.58169	.	.	.	.	.	T	0.39759	0.1090	L	0.43152	1.355	0.09310	N	1	P;P	0.42518	0.782;0.782	B;B	0.40256	0.324;0.324	T	0.20974	-1.0259	9	0.34782	T	0.22	0.7335	9.4427	0.38679	0.0:0.0:0.0:1.0	.	249;249	P35663;F5H4V5	CYLC1_HUMAN;.	T	249	ENSP00000331556:M249T	ENSP00000331556:M249T	M	+	2	0	CYLC1	83015118	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	0.765000	0.26546	1.829000	0.53265	0.486000	0.48141	ATG		PASS	0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		4	15	4	15	---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109924818	109924818	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:109924818G>C	ENST00000372045.1	-	10	1155	c.1024C>G	c.(1024-1026)Cct>Gct	p.P342A	CHRDL1_ENST00000482160.1_Missense_Mutation_p.P270A|CHRDL1_ENST00000394797.4_Missense_Mutation_p.P348A|CHRDL1_ENST00000372042.1_Missense_Mutation_p.P350A|CHRDL1_ENST00000434224.1_Missense_Mutation_p.P269A|CHRDL1_ENST00000218054.4_Missense_Mutation_p.P348A|CHRDL1_ENST00000444321.2_Missense_Mutation_p.P349A			Q9BU40	CRDL1_HUMAN	chordin-like 1	342					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.P348A(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TCATACACAGGCATCGTTTCT	0.453																																						uc004eou.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)CCT>GCT		chordin-like 1 isoform 1 precursor							187.0	145.0	159.0					X																	109924818		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109924818G>C	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1024C>G	X.37:g.109924818G>C	ENSP00000361115:p.Pro342Ala					CHRDL1_uc004eov.2_Missense_Mutation_p.P339A|CHRDL1_uc004eow.2_Missense_Mutation_p.P348A|CHRDL1_uc010nps.2_Missense_Mutation_p.P349A|CHRDL1_uc004eot.2_Missense_Mutation_p.P269A|CHRDL1_uc011mss.1_Missense_Mutation_p.P264A	p.P350A	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			10	1397	-			342					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.1048C>G		.	.	.	.	.	.	.	.	.	.	G	12.97	2.096890	0.37048	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.29142	2.33;1.59;2.33;2.33;2.59;1.58;2.33	4.97	4.97	0.65823	.	0.201804	0.47093	D	0.000247	T	0.44222	0.1283	L	0.29908	0.895	0.50632	D	0.999882	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.78314	0.986;0.991;0.991;0.991;0.991;0.986	T	0.23511	-1.0186	9	.	.	.	-11.0696	18.0888	0.89468	0.0:0.0:1.0:0.0	.	270;349;329;342;350;269	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	A	342;269;348;348;350;270;349	ENSP00000361115:P342A;ENSP00000389627:P269A;ENSP00000218054:P348A;ENSP00000378276:P348A;ENSP00000361112:P350A;ENSP00000418443:P270A;ENSP00000399739:P349A	.	P	-	1	0	CHRDL1	109811474	1.000000	0.71417	0.993000	0.49108	0.881000	0.50899	6.835000	0.75344	2.403000	0.81681	0.538000	0.68166	CCT		PASS	0.453	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		6	43	6	43	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130218636	130218636	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:130218636C>A	ENST00000276211.5	+	6	1130	c.785C>A	c.(784-786)tCc>tAc	p.S262Y	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S126Y|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S250Y	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	262	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.S262Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTTGAATACTCCGTGCAGCGA	0.473																																						uc004evz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(784-786)TCC>TAC		hypothetical protein LOC158763 precursor							181.0	155.0	164.0					X																	130218636		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218636C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.785C>A	X.37:g.130218636C>A	ENSP00000276211:p.Ser262Tyr					ARHGAP36_uc004ewa.2_Missense_Mutation_p.S250Y|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S231Y|ARHGAP36_uc004ewc.2_Missense_Mutation_p.S126Y	p.S262Y	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			6	1130	+			262			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.785C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737202	0.69304	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T;T	0.51071	1.88;1.88;0.72;1.88;1.88	4.99	4.99	0.66335	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.130250	0.36034	N	0.002826	T	0.76414	0.3984	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.82857	-0.0250	10	0.72032	D	0.01	.	12.5345	0.56135	0.0:1.0:0.0:0.0	.	231;250;262	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Y	262;250;214;231;126	ENSP00000276211:S262Y;ENSP00000359960:S250Y;ENSP00000409218:S214Y;ENSP00000408515:S231Y;ENSP00000359959:S126Y	ENSP00000276211:S262Y	S	+	2	0	ARHGAP36	130046317	1.000000	0.71417	0.095000	0.20976	0.024000	0.10985	6.089000	0.71384	2.451000	0.82905	0.529000	0.55759	TCC		PASS	0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		8	45	8	45	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130417031	130417031	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:130417031C>T	ENST00000361420.3	-	6	954	c.875G>A	c.(874-876)gGa>gAa	p.G292E	IGSF1_ENST00000370903.3_Missense_Mutation_p.G292E|IGSF1_ENST00000370904.1_Missense_Mutation_p.G283E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G283E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	292	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.G292E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGGTAATGTCCAGTATCTTG	0.398																																						uc004ewd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(874-876)GGA>GAA		immunoglobulin superfamily, member 1 isoform 1							121.0	100.0	107.0					X																	130417031		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130417031C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.875G>A	X.37:g.130417031C>T	ENSP00000355010:p.Gly292Glu					IGSF1_uc004ewe.3_Missense_Mutation_p.G281E|IGSF1_uc004ewf.2_Missense_Mutation_p.G272E	p.G292E	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			6	1113	-			292			Ig-like C2-type 3.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.875G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586525	0.66105	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01572	4.76;4.76;4.76;4.76	4.68	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.517808	0.16617	N	0.206654	T	0.11367	0.0277	M	0.84683	2.71	0.41076	D	0.985485	D;D	0.89917	0.996;1.0	D;D	0.91635	0.959;0.999	T	0.00109	-1.2049	10	0.87932	D	0	.	12.0329	0.53408	0.0:1.0:0.0:0.0	.	283;292	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	E	283;292;283;292	ENSP00000359947:G283E;ENSP00000355010:G292E;ENSP00000359941:G283E;ENSP00000359940:G292E	ENSP00000355010:G292E	G	-	2	0	IGSF1	130244712	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.347000	0.52200	2.327000	0.79052	0.594000	0.82650	GGA		PASS	0.398	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			4	31	4	31	---	---	---	---
F9	2158	broad.mit.edu	37	X	138623348	138623348	+	Splice_Site	SNP	G	G	T			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chrX:138623348G>T	ENST00000218099.2	+	4	398	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	F9_ENST00000394090.2_Intron|F9_ENST00000479617.2_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	131	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D131Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CTGTGAATTAGGTAAGTAACT	0.338																																						uc004fas.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(391-393)GAT>TAT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						145.0	117.0	127.0					X																	138623348		2203	4300	6503	SO:0001630	splice_region_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138623348G>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.391+1G>T	X.37:g.138623348G>T						F9_uc004fat.1_Intron	p.D131Y	NM_000133	NP_000124	P00740	FA9_HUMAN			4	420	+	Acute lymphoblastic leukemia(192;0.000127)		131			EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.391G>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	2.542	-0.306010	0.05458	.	.	ENSG00000101981	ENST00000218099	D	0.92805	-3.11	5.72	4.85	0.62838	.	0.231834	0.44097	N	0.000486	D	0.85745	0.5768	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.79112	-0.1937	10	0.15952	T	0.53	.	12.7697	0.57412	0.0:0.0:0.8349:0.1651	.	131	P00740	FA9_HUMAN	Y	131	ENSP00000218099:D131Y	ENSP00000218099:D131Y	D	+	1	0	F9	138451014	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.334000	0.65923	1.153000	0.42468	0.594000	0.82650	GAT		PASS	0.338	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		Missense_Mutation	4	21	4	21	---	---	---	---
LOC284632	284632	broad.mit.edu	37	1	24537536	24537536	+	lincRNA	DEL	T	T	-			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr1:24537536delT	ENST00000439059.2	+	0	1202					NR_027087.2																						ACCCTCTTTCTTAACCAGACA	0.557																																						uc010oei.1																			0					0								Homo sapiens hypothetical protein LOC284632, mRNA (cDNA clone IMAGE:4826835).																																						284632							g.chr1:24537536delT																													1.37:g.24537536delT								NR_027087						3		+									RNA	DEL	ENST00000439059.2	37	c.1202delT																																																																																						0.557	RP11-10N16.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000008408.2			4	2	4	2	---	---	---	---
LOC100128164	100128164	broad.mit.edu	37	3	169664945	169664946	+	RNA	DEL	GT	GT	-	rs151197602|rs57058253|rs149055674|rs57886512		TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr3:169664945_169664946delGT	ENST00000487580.1	-	0	263				RP11-379K17.4_ENST00000600502.1_RNA|RP11-379K17.4_ENST00000483289.2_RNA																							AGGTATATTCgtgtgtgtgtgt	0.411																																						uc011bpp.1																			0					0								Homo sapiens cDNA FLJ41016 fis, clone UTERU2018784.																																						100128164							g.chr3:169664945_169664946delGT																													3.37:g.169664955_169664956delGT								NR_027622						2		-									RNA	DEL	ENST00000487580.1	37	c.2857_2858delAC																																																																																						0.411	RP11-379K17.4-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000351957.1			4	2	4	2	---	---	---	---
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695|rs540111016|rs370506651	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694				AC126323.1_ENST00000408214.1_RNA																							GGGGGCTCCGGGTAGGGGTTCA	0.609																																						uc002ain.1																			0													Homo sapiens cDNA FLJ38723 fis, clone KIDNE2010137, weakly similar to GOLGIN-95.																																						0							g.chr15:62538522_62538523insGA																													15.37:g.62538522_62538523insGA						uc002ajj.1_3'UTR|uc002ajn.2_5'Flank|uc002ajo.2_5'Flank|uc002ajq.2_5'Flank|uc002ajr.1_5'Flank|uc010uhp.1_5'Flank|uc002ajt.2_5'Flank|uc002ajw.2_5'Flank|uc010uhq.1_5'Flank|uc002ajx.2_5'Flank|uc002ajy.2_5'Flank								5		-									RNA	INS	ENST00000570077.1	37	c.694_695insTC																																																																																						0.609	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			4	3	4	3	---	---	---	---
PRR25	388199	broad.mit.edu	37	16	863772	863772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:863772delG	ENST00000301698.1	+	3	1120	c.1120delG	c.(1120-1122)gggfs	p.G374fs		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	374										large_intestine(1)|lung(1)|skin(1)	3						GCGGATCCCCGGGGCCGCGCG	0.796																																						uc010uut.1																			0				large_intestine(1)	1						c.(1120-1122)GGGfs		proline rich 25							2.0	2.0	2.0					16																	863772		1162	2736	3898	SO:0001589	frameshift_variant	388199							g.chr16:863772delG	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.1120delG	16.37:g.863772delG	ENSP00000301698:p.Gly374fs						p.G374fs	NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN			3	1120	+			374						Frame_Shift_Del	DEL	ENST00000301698.1	37	c.1120delG	CCDS45372.1																																																																																					0.796	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		4	2	4	2	---	---	---	---
LOC652276	652276	broad.mit.edu	37	16	2660756	2660756	+	RNA	DEL	A	A	-	rs56998948|rs552397937	byFrequency	TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:2660756delA	ENST00000399702.1	+	0	672					NR_015441.1																						GCTGTCTTACAAAAAAAAAAA	0.542													|||unknown(NO_COVERAGE)	248	0.0495208	0.0908	0.0375	5008	,	,		16613	0.0179		0.0398	False		,,,				2504	0.045					uc002cqx.2																			0					0								Homo sapiens cDNA FLJ39075 fis, clone NT2RP7016911.																																						652276							g.chr16:2660756delA																													16.37:g.2660756delA						LOC652276_uc002cqy.3_RNA								2		+									RNA	DEL	ENST00000399702.1	37	c.638delA																																																																																						0.542	AC141586.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000250833.2			2	4	2	4	---	---	---	---
LOC283887	283887	broad.mit.edu	37	16	25078519	25078519	+	lincRNA	DEL	C	C	-			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr16:25078519delC	ENST00000571219.1	+	0	262																											TCCTCTCTTGCCGCGCGCCGA	0.652																																						uc002dnh.1																			0													Homo sapiens cDNA FLJ36063 fis, clone TESTI2018975.																																						0							g.chr16:25078519delC																													16.37:g.25078519delC						uc002dni.1_5'Flank|uc010vch.1_5'Flank|uc002dnj.2_5'Flank								1		+									RNA	DEL	ENST00000571219.1	37	c.161delC																																																																																						0.652	RP11-266L9.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436777.1			4	2	4	2	---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42463236	42463236	+	Frame_Shift_Del	DEL	G	G	-			TCGA-46-3767-01A-01D-0983-08	TCGA-46-3767-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	db4ea3ec-e926-4e75-a97b-a527c101b3b9	f2af4deb-a3cb-4ed4-a800-1530842ff69e	g.chr17:42463236delG	ENST00000262407.5	-	3	395	c.364delC	c.(364-366)caafs	p.Q122fs	ITGA2B_ENST00000377068.3_5'Flank|ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.Q122fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	122					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CCCAGTCCTTGGCGGGCCTTG	0.642																																						uc002igt.1																			0				ovary(2)|lung(1)	3						c.(364-366)CAAfs		integrin alpha 2b preproprotein	Tirofiban(DB00775)						24.0	26.0	26.0					17																	42463236		2202	4298	6500	SO:0001589	frameshift_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42463236delG		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.364delC	17.37:g.42463236delG	ENSP00000262407:p.Gln122fs						p.Q122fs	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	3	396	-		Prostate(33;0.0181)	122			Extracellular (Potential).|FG-GAP 2.		B2RCY8|O95366|Q14443|Q17R67	Frame_Shift_Del	DEL	ENST00000262407.5	37	c.364delC	CCDS32665.1																																																																																					0.642	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			4	2	4	2	---	---	---	---
