#version 2.4
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## 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
PARK7	11315	broad.mit.edu	37	1	8037728	8037728	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:8037728G>T	ENST00000493678.1	+	6	406	c.339G>T	c.(337-339)ttG>ttT	p.L113F	PARK7_ENST00000377493.5_Missense_Mutation_p.L93F|PARK7_ENST00000338639.5_Missense_Mutation_p.L113F|PARK7_ENST00000377491.1_Missense_Mutation_p.L113F|PARK7_ENST00000377488.1_Missense_Mutation_p.L113F			Q99497	PARK7_HUMAN	parkinson protein 7	113					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)	p.L113F(1)		large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTCTGTTGGCTCATGAAA	0.358																																						uc001aou.3																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)TTG>TTT		Parkinson disease protein 7							122.0	116.0	118.0					1																	8037728		2203	4300	6503	SO:0001583	missense	11315				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8037728G>T	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.339G>T	1.37:g.8037728G>T	ENSP00000418770:p.Leu113Phe					PARK7_uc001aox.3_Missense_Mutation_p.L113F|PARK7_uc001aov.3_Missense_Mutation_p.L93F	p.L113F	NM_001123377	NP_001116849	Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	6	444	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	113					B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.339G>T	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548457	0.45383	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.92	5.92	0.95590	ThiJ/PfpI (1);	0.131525	0.52532	D	0.000066	D	0.85133	0.5627	L	0.61387	1.9	0.80722	D	1	B	0.26975	0.165	B	0.25884	0.064	T	0.82022	-0.0663	10	0.48119	T	0.1	.	13.4073	0.60922	0.0:0.1575:0.8425:0.0	.	113	Q99497	PARK7_HUMAN	F	113	ENSP00000340278:L113F;ENSP00000418770:L113F;ENSP00000366711:L113F;ENSP00000366708:L113F	ENSP00000340278:L113F	L	+	3	2	PARK7	7960315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.510000	0.53393	2.810000	0.96702	0.650000	0.86243	TTG		PASS	0.358	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		4	120	4	120	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11318609	11318609	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:11318609G>C	ENST00000361445.4	-	3	280	c.204C>G	c.(202-204)aaC>aaG	p.N68K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	68	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.N68K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AAATGTGATGGTTCAGTTGGT	0.413																																						uc001asd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(202-204)AAC>AAG		FK506 binding protein 12-rapamycin associated							175.0	152.0	160.0					1																	11318609		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11318609G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.204C>G	1.37:g.11318609G>C	ENSP00000354558:p.Asn68Lys						p.N68K	NM_004958	NP_004949	P42345	MTOR_HUMAN			3	325	-			68					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.204C>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731411	0.69189	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.08807	3.05	5.89	1.47	0.22746	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.30504	-0.9976	10	0.72032	D	0.01	-4.3307	10.0435	0.42173	0.4242:0.0:0.5758:0.0	.	68	P42345	MTOR_HUMAN	K	68	ENSP00000354558:N68K	ENSP00000354558:N68K	N	-	3	2	MTOR	11241196	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.497000	0.53295	0.418000	0.25898	0.650000	0.86243	AAC		PASS	0.413	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		68	182	68	182	---	---	---	---
PRAMEF13	400736	broad.mit.edu	37	1	13448272	13448272	+	Silent	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:13448272G>A	ENST00000376132.3	-	4	1305	c.1203C>T	c.(1201-1203)acC>acT	p.T401T		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	401					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T401T(1)		breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCCCACTGGTGTGGCGCA	0.557																																						uc010obi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1201-1203)ACC>ACT		PRAME family member 13							65.0	59.0	61.0					1																	13448272		2202	4296	6498	SO:0001819	synonymous_variant	400736							g.chr1:13448272G>A			1p36.21	2013-01-17			ENSG00000204495			"""-"""	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1203C>T	1.37:g.13448272G>A						PRAMEF14_uc009vnt.1_Silent_p.T353T	p.T401T	NM_001024661	NP_001019832	Q5VWM6	PRA13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1306	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	401						Silent	SNP	ENST00000376132.3	37	c.1203C>T	CCDS41257.1																																																																																				PASS	0.557	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022040.1	XM_375688		31	78	31	78	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17708501	17708501	+	RNA	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:17708501G>T	ENST00000434762.2	+	0	643							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.G198V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AATGTCCAAGGCCCCAGCTGT	0.493																																						uc001bak.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(592-594)GGC>GTC		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						87.0	87.0	87.0					1																	17708501		1909	4120	6029			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17708501G>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17708501G>T							p.G198V	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	593	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	190					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.593G>T																																																																																					PASS	0.493	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		27	81	27	81	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18023729	18023729	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:18023729C>T	ENST00000361221.3	+	29	3853	c.3694C>T	c.(3694-3696)Cgc>Tgc	p.R1232C	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R1005C|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R935C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1193C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1193C	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1232						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1232C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGACGCCCACCGCAAGGAGAT	0.682																																						uc001ban.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(3694-3696)CGC>TGC		Rho guanine nucleotide exchange factor (GEF)							26.0	28.0	27.0					1																	18023729		2192	4268	6460	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023729C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3694C>T	1.37:g.18023729C>T	ENSP00000355060:p.Arg1232Cys					ARHGEF10L_uc001bao.2_Missense_Mutation_p.R1193C|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R1188C|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R993C|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R1005C|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R935C|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.R256C	p.R1232C	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3853	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1232					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3694C>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731753	0.89390	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.65732	0.07;0.14;0.14;-0.17;2.09	5.0	5.0	0.66597	.	0.146248	0.43579	D	0.000548	T	0.78534	0.4298	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.999;0.993;0.997;0.999;0.999	T	0.81482	-0.0913	10	0.87932	D	0	-19.1742	15.016	0.71584	0.0:1.0:0.0:0.0	.	1005;935;993;1188;1193;1232	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	C	1232;1193;1193;1005;935	ENSP00000355060:R1232C;ENSP00000399401:R1193C;ENSP00000364564:R1193C;ENSP00000364557:R1005C;ENSP00000167825:R935C	ENSP00000167825:R935C	R	+	1	0	ARHGEF10L	17896316	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.091000	0.57700	2.294000	0.77228	0.655000	0.94253	CGC		PASS	0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	64	3	64	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19477075	19477075	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:19477075C>G	ENST00000375254.3	-	49	7453	c.7426G>C	c.(7426-7428)Gag>Cag	p.E2476Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E2476Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E2476Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2476Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2476					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2476Q(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTACCTCTCCAGGACAGTT	0.522																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7426-7428)GAG>CAG		retinoblastoma-associated factor 600							75.0	73.0	74.0					1																	19477075		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19477075C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7426G>C	1.37:g.19477075C>G	ENSP00000364403:p.Glu2476Gln					UBR4_uc001bbk.1_Missense_Mutation_p.E130Q	p.E2476Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	49	7430	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2476					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7426G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770956	0.90108	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.29655	1.62;1.61;1.56;1.84	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	L	0.54323	1.7	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.48885	-0.8995	10	0.72032	D	0.01	.	18.2061	0.89854	0.0:1.0:0.0:0.0	.	2476	Q5T4S7	UBR4_HUMAN	Q	2476;2476;2476;2476;91;1186	ENSP00000364403:E2476Q;ENSP00000364416:E2476Q;ENSP00000364365:E2476Q;ENSP00000364374:E2476Q	ENSP00000364365:E2476Q	E	-	1	0	UBR4	19349662	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.484000	0.81180	2.737000	0.93849	0.650000	0.86243	GAG		PASS	0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	183	4	183	---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55524240	55524240	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:55524240G>A	ENST00000302118.5	+	9	1713	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.S257S	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	475	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A475T(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CACAGCCGTCGCCCGCTGCGC	0.642																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1423-1425)GCC>ACC		proprotein convertase subtilisin/kexin type 9							41.0	42.0	41.0					1																	55524240		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55524240G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1423G>A	1.37:g.55524240G>A	ENSP00000303208:p.Ala475Thr					PCSK9_uc010oom.1_RNA	p.A475T	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			9	1714	+			475					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1423G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551332	0.45383	.	.	ENSG00000169174	ENST00000302118	T	0.74002	-0.8	4.47	3.54	0.40534	.	0.381500	0.26478	N	0.024156	T	0.66177	0.2763	L	0.50333	1.59	0.21147	N	0.999779	D	0.59357	0.985	B	0.38106	0.265	T	0.60984	-0.7154	10	0.54805	T	0.06	-9.5911	13.9019	0.63809	0.0:0.1543:0.8457:0.0	.	475	Q8NBP7	PCSK9_HUMAN	T	475	ENSP00000303208:A475T	ENSP00000303208:A475T	A	+	1	0	PCSK9	55296828	0.832000	0.29368	0.005000	0.12908	0.006000	0.05464	2.807000	0.47955	0.815000	0.34398	0.462000	0.41574	GCC		PASS	0.642	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		7	38	7	38	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55545265	55545265	+	Silent	SNP	A	A	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:55545265A>G	ENST00000294383.6	-	60	7145	c.7146T>C	c.(7144-7146)caT>caC	p.H2382H	USP24_ENST00000407756.1_Silent_p.H2222H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2382					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.H2299H(1)|p.H2382H(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTACCTCCTCATGGAGGGGCA	0.448																																						uc001cyg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(6664-6666)CAT>CAC		ubiquitin specific protease 24							153.0	150.0	151.0					1																	55545265		1887	4115	6002	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55545265A>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7146T>C	1.37:g.55545265A>G							p.H2222H	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			57	6666	-			2382					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.6666T>C	CCDS44154.2																																																																																				PASS	0.448	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			56	164	56	164	---	---	---	---
GIPC2	54810	broad.mit.edu	37	1	78560690	78560690	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:78560690C>G	ENST00000370759.3	+	3	674	c.481C>G	c.(481-483)Cat>Gat	p.H161D	RNA5SP22_ENST00000365393.1_RNA	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	161	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.H161D(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TGTTGGGGATCATATTGAATC	0.313																																						uc001dik.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)CAT>GAT		PDZ domain protein GIPC2							132.0	141.0	138.0					1																	78560690		2203	4300	6503	SO:0001583	missense	54810					cytoplasm		g.chr1:78560690C>G	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.481C>G	1.37:g.78560690C>G	ENSP00000359795:p.His161Asp						p.H161D	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN			3	671	+			161			PDZ.		Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	c.481C>G	CCDS685.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157773	0.78114	.	.	ENSG00000137960	ENST00000370759	T	0.26518	1.73	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58912	-0.7552	10	0.59425	D	0.04	-9.5935	18.7788	0.91924	0.0:1.0:0.0:0.0	.	161	Q8TF65	GIPC2_HUMAN	D	161	ENSP00000359795:H161D	ENSP00000359795:H161D	H	+	1	0	GIPC2	78333278	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.184000	0.58323	2.615000	0.88500	0.561000	0.74099	CAT		PASS	0.313	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		5	206	5	206	---	---	---	---
GPR61	83873	broad.mit.edu	37	1	110085901	110085901	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:110085901A>G	ENST00000527748.1	+	2	940	c.257A>G	c.(256-258)gAc>gGc	p.D86G	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.D86G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCTGGTGGACCTGCTGGCT	0.622																																						uc001dxy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(256-258)GAC>GGC		G protein-coupled receptor 61							137.0	130.0	132.0					1																	110085901		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085901A>G	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.257A>G	1.37:g.110085901A>G	ENSP00000432456:p.Asp86Gly						p.D86G	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	940	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	86			Helical; Name=2; (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.257A>G	CCDS801.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020360	0.75275	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	D	0.88664	-2.41	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95805	0.8836	10	0.87932	D	0	-38.7278	15.2009	0.73136	1.0:0.0:0.0:0.0	.	86	Q9BZJ8	GPR61_HUMAN	G	86;214	ENSP00000432456:D86G	ENSP00000286603:D214G	D	+	2	0	GPR61	109887424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.332000	0.96446	2.060000	0.61445	0.533000	0.62120	GAC		PASS	0.622	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			54	182	54	182	---	---	---	---
RORC	6097	broad.mit.edu	37	1	151787406	151787406	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:151787406G>A	ENST00000318247.6	-	5	901	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RORC_ENST00000356728.6_Missense_Mutation_p.A244V|RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.A319V	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	265	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A265V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTCAGGGAGGCATAGGGTGC	0.602																																						uc001ezh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(793-795)GCC>GTC		RAR-related orphan receptor C isoform a							45.0	44.0	44.0					1																	151787406		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787406G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.794C>T	1.37:g.151787406G>A	ENSP00000327025:p.Ala265Val					RORC_uc001ezg.2_Missense_Mutation_p.A244V|RORC_uc010pdo.1_Missense_Mutation_p.A319V|RORC_uc010pdp.1_Missense_Mutation_p.A265V	p.A265V	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	902	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		265			Hinge (Potential).		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.794C>T	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294634	0.23564	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94330	-3.37;-3.4;-3.38	5.29	3.35	0.38373	Nuclear hormone receptor, ligand-binding (1);	0.304407	0.25514	U	0.030156	T	0.68997	0.3062	N	0.25485	0.75	0.39775	D	0.972221	P;B;B;B	0.48503	0.911;0.085;0.085;0.031	B;B;B;B	0.31245	0.126;0.008;0.018;0.027	T	0.72649	-0.4229	10	0.09338	T	0.73	.	4.6738	0.12701	0.1791:0.1915:0.6295:0.0	.	265;319;265;244	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	V	244;319;265	ENSP00000349164:A244V;ENSP00000376461:A319V;ENSP00000327025:A265V	ENSP00000327025:A265V	A	-	2	0	RORC	150054030	1.000000	0.71417	0.993000	0.49108	0.882000	0.50991	3.334000	0.52097	1.158000	0.42547	0.563000	0.77884	GCC		PASS	0.602	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			13	45	13	45	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283373	152283373	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:152283373C>T	ENST00000368799.1	-	3	4024	c.3989G>A	c.(3988-3990)gGc>gAc	p.G1330D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1330	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1330D(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGAGTGCCTGATTGTCT	0.547									Ichthyosis																													uc001ezu.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3988-3990)GGC>GAC		filaggrin							298.0	284.0	289.0					1																	152283373		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283373C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3989G>A	1.37:g.152283373C>T	ENSP00000357789:p.Gly1330Asp					uc001ezv.2_5'Flank	p.G1330D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4025	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1330			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3989G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	4.487	0.090229	0.08632	.	.	ENSG00000143631	ENST00000368799	T	0.07567	3.18	2.83	-0.772	0.10998	.	.	.	.	.	T	0.02649	0.0080	M	0.77616	2.38	0.09310	N	1	B	0.16802	0.019	B	0.18263	0.021	T	0.44892	-0.9298	9	0.17369	T	0.5	.	2.6559	0.05012	0.222:0.4978:0.0:0.2802	.	1330	P20930	FILA_HUMAN	D	1330	ENSP00000357789:G1330D	ENSP00000357789:G1330D	G	-	2	0	FLG	150549997	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.039000	0.12124	0.080000	0.16959	-0.573000	0.04149	GGC		PASS	0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		102	366	102	366	---	---	---	---
NES	10763	broad.mit.edu	37	1	156639850	156639850	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:156639850G>T	ENST00000368223.3	-	4	4262	c.4130C>A	c.(4129-4131)cCt>cAt	p.P1377H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1377	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.P1377H(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)					AGGAAGAAAAGGTGCCTCAGT	0.617																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(4129-4131)CCT>CAT		nestin							49.0	59.0	55.0					1																	156639850		2203	4299	6502	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.chr1:156639850G>T	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.4130C>A	1.37:g.156639850G>T	ENSP00000357206:p.Pro1377His						p.P1377H	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4263	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1377			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4130C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225741	0.39300	.	.	ENSG00000132688	ENST00000368223	D	0.85629	-2.01	4.46	4.46	0.54185	.	0.266413	0.20166	N	0.097841	T	0.57858	0.2082	N	0.08118	0	0.22354	N	0.999179	B	0.06786	0.001	B	0.01281	0.0	T	0.57757	-0.7756	10	0.87932	D	0	.	12.4837	0.55859	0.0:0.0:1.0:0.0	.	1377	P48681	NEST_HUMAN	H	1377	ENSP00000357206:P1377H	ENSP00000357206:P1377H	P	-	2	0	NES	154906474	0.581000	0.26741	0.950000	0.38849	0.896000	0.52359	5.109000	0.64615	2.316000	0.78162	0.557000	0.71058	CCT		PASS	0.617	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		31	108	31	108	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161046204	161046204	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:161046204T>G	ENST00000368012.3	-	4	1094	c.792A>C	c.(790-792)gaA>gaC	p.E264D	PVRL4_ENST00000453926.2_5'UTR|PVRL4_ENST00000486694.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	264	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E264D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCATAGCTCCTTCTCTGCCAA	0.552																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(790-792)GAA>GAC		poliovirus receptor-related 4 precursor							96.0	87.0	90.0					1																	161046204		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161046204T>G	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.792A>C	1.37:g.161046204T>G	ENSP00000356991:p.Glu264Asp					PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'UTR	p.E264D	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	1091	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		264			Ig-like C2-type 2.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.792A>C	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575631	0.45902	.	.	ENSG00000143217	ENST00000368012	T	0.47177	0.85	4.99	2.71	0.32032	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.093095	0.47093	D	0.000245	T	0.17152	0.0412	L	0.49513	1.565	0.80722	D	1	P	0.36199	0.543	B	0.34991	0.193	T	0.06770	-1.0808	10	0.13470	T	0.59	.	6.0594	0.19828	0.0:0.2:0.0:0.8	.	264	Q96NY8	PVRL4_HUMAN	D	264	ENSP00000356991:E264D	ENSP00000356991:E264D	E	-	3	2	PVRL4	159312828	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.740000	0.26188	0.403000	0.25479	0.528000	0.53228	GAA		PASS	0.552	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		38	108	38	108	---	---	---	---
DUSP12	11266	broad.mit.edu	37	1	161726673	161726673	+	Missense_Mutation	SNP	A	A	G	rs544973471		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:161726673A>G	ENST00000367943.4	+	6	991	c.959A>G	c.(958-960)cAt>cGt	p.H320R		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	320					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)	p.H320R(1)		breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TTTCAAATACATAAGAATAGA	0.388													A|||	1	0.000199681	0.0	0.0014	5008	,	,		16774	0.0		0.0	False		,,,				2504	0.0					uc001gbo.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(958-960)CAT>CGT		dual specificity phosphatase 12							104.0	102.0	103.0					1																	161726673		2203	4300	6503	SO:0001583	missense	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161726673A>G	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.959A>G	1.37:g.161726673A>G	ENSP00000356920:p.His320Arg					DUSP12_uc001gbp.2_Missense_Mutation_p.H190R	p.H320R	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		6	970	+	all_hematologic(112;0.0359)		320					Q5VXA8	Missense_Mutation	SNP	ENST00000367943.4	37	c.959A>G	CCDS1234.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364561	0.82463	.	.	ENSG00000081721	ENST00000367943	T	0.04015	3.73	5.81	5.81	0.92471	.	0.358483	0.31685	N	0.007239	T	0.13670	0.0331	M	0.80746	2.51	0.47994	D	0.999567	D	0.76494	0.999	D	0.85130	0.997	T	0.04413	-1.0953	9	0.33940	T	0.23	.	14.1188	0.65172	1.0:0.0:0.0:0.0	.	320	Q9UNI6	DUS12_HUMAN	R	320	ENSP00000356920:H320R	ENSP00000356920:H320R	H	+	2	0	DUSP12	159993297	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.807000	0.86032	2.210000	0.71456	0.533000	0.62120	CAT		PASS	0.388	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		39	122	39	122	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588376	247588376	+	Missense_Mutation	SNP	C	C	T	rs199856287		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr1:247588376C>T	ENST00000336119.3	+	3	2377	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	NLRP3_ENST00000366497.2_Missense_Mutation_p.T544M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.T544M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T544M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T544M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T544M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	544					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.T544M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGGAAGGACGAACGTTCCA	0.473																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1630-1632)ACG>ATG		NLR family, pyrin domain containing 3 isoform a							59.0	52.0	55.0					1																	247588376		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588376C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1631C>T	1.37:g.247588376C>T	ENSP00000337383:p.Thr544Met					NLRP3_uc001ics.2_Missense_Mutation_p.T544M|NLRP3_uc001icu.2_Missense_Mutation_p.T544M|NLRP3_uc001icw.2_Missense_Mutation_p.T544M|NLRP3_uc001icv.2_Missense_Mutation_p.T544M|NLRP3_uc010pyw.1_Missense_Mutation_p.T542M|NLRP3_uc001ict.1_Missense_Mutation_p.T542M	p.T544M	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1769	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	544					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1631C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.078944	0.00375	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	3.94	-7.89	0.01174	.	1.267670	0.05320	N	0.526388	T	0.77805	0.4185	N	0.08118	0	0.09310	N	1	B;P;P;P;B	0.48911	0.0;0.917;0.584;0.91;0.389	B;B;B;B;B	0.36608	0.001;0.229;0.174;0.188;0.057	T	0.76195	-0.3048	10	0.51188	T	0.08	.	5.2885	0.15714	0.1285:0.488:0.084:0.2994	.	544;544;544;544;544	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	544	ENSP00000375704:T544M;ENSP00000355453:T544M;ENSP00000337383:T544M;ENSP00000294752:T544M;ENSP00000355452:T544M;ENSP00000375703:T544M	ENSP00000337383:T544M	T	+	2	0	NLRP3	245654999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.641000	0.00107	-5.733000	0.00010	-0.823000	0.03104	ACG		PASS	0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		14	55	14	55	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130914906	130914906	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:130914906C>A	ENST00000409031.1	-	12	2280	c.1132G>T	c.(1132-1134)Gcc>Tcc	p.A378S	SMPD4_ENST00000443958.2_Missense_Mutation_p.A42S|SMPD4_ENST00000452225.2_Missense_Mutation_p.A119S|SMPD4_ENST00000351288.6_Missense_Mutation_p.A349S|SMPD4_ENST00000431183.2_Missense_Mutation_p.A276S|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.A236S|SMPD4_ENST00000453750.1_Missense_Mutation_p.A127S|SMPD4_ENST00000426662.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	339					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.A378S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TTGGCAAAGGCGTGCAGGTGC	0.657																																						uc002tqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1132-1134)GCC>TCC		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						22.0	22.0	22.0					2																	130914906		2185	4264	6449	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130914906C>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1132G>T	2.37:g.130914906C>A	ENSP00000386531:p.Ala378Ser					SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.A71S|SMPD4_uc010yzy.1_Missense_Mutation_p.A127S|SMPD4_uc010yzz.1_Missense_Mutation_p.A42S|SMPD4_uc002tqr.1_Missense_Mutation_p.A349S|SMPD4_uc002tqs.1_Missense_Mutation_p.A246S|SMPD4_uc002tqt.1_Missense_Mutation_p.A227S|SMPD4_uc010zaa.1_Missense_Mutation_p.A236S|SMPD4_uc010zab.1_Missense_Mutation_p.A276S|SMPD4_uc010zac.1_Missense_Mutation_p.A119S|SMPD4_uc010zad.1_Intron	p.A378S	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			12	1652	-	Colorectal(110;0.1)		339					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1132G>T	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.841637	0.51057	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000451542	.	.	.	3.6	3.6	0.41247	.	0.184715	0.47455	N	0.000230	T	0.49355	0.1552	M	0.64997	1.995	0.25226	N	0.989866	B;B;B;P;B;D;D;P	0.63046	0.432;0.059;0.059;0.945;0.397;0.961;0.992;0.476	B;B;B;P;B;P;P;B	0.59171	0.345;0.02;0.02;0.548;0.209;0.768;0.853;0.209	T	0.33523	-0.9865	9	0.22706	T	0.39	.	7.0294	0.24958	0.0:0.8689:0.0:0.1311	.	119;276;236;127;310;339;378;339	B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4	.;.;.;.;.;NSMA3_HUMAN;.;.	S	349;378;276;127;42;236;119;126	.	ENSP00000339721:A236S	A	-	1	0	SMPD4	130631376	1.000000	0.71417	0.782000	0.31804	0.810000	0.45777	3.650000	0.54424	1.543000	0.49345	0.449000	0.29647	GCC		PASS	0.657	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		5	10	5	10	---	---	---	---
ACMSD	130013	broad.mit.edu	37	2	135616876	135616876	+	Silent	SNP	C	C	A	rs181857322	byFrequency	TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:135616876C>A	ENST00000356140.5	+	3	284	c.148C>A	c.(148-150)Cga>Aga	p.R50R	ACMSD_ENST00000392928.1_Nonsense_Mutation_p.C8*|MIR5590_ENST00000577826.1_RNA|ACMSD_ENST00000283054.4_Nonsense_Mutation_p.C8*|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	50					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.R50R(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CAGAGTGGTGCGAGAGAATTG	0.423																																						uc002ttz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(148-150)CGA>AGA		aminocarboxymuconate semialdehyde decarboxylase							138.0	136.0	136.0					2																	135616876		2203	4300	6503	SO:0001819	synonymous_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135616876C>A	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.148C>A	2.37:g.135616876C>A						ACMSD_uc002tua.2_Nonsense_Mutation_p.C8*	p.R50R	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	3	215	+			50					Q3B7X3|Q53SR5|Q96KY2	Silent	SNP	ENST00000356140.5	37	c.148C>A	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.032839	0.93575	.	.	ENSG00000153086	ENST00000283054;ENST00000392928	.	.	.	4.87	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.0285	14.6785	0.68998	0.1464:0.8536:0.0:0.0	.	.	.	.	X	8	.	ENSP00000283054:C8X	C	+	3	2	ACMSD	135333346	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.414000	0.52693	1.357000	0.45904	0.655000	0.94253	TGC		PASS	0.423	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			19	52	19	52	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136587206	136587206	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:136587206C>T	ENST00000264162.2	-	3	771	c.761G>A	c.(760-762)tGc>tAc	p.C254Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	254	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.C254Y(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCATTTTGGCATTCATAAGA	0.423																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(760-762)TGC>TAC		lactase-phlorizin hydrolase preproprotein							145.0	144.0	144.0					2																	136587206		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136587206C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.761G>A	2.37:g.136587206C>T	ENSP00000264162:p.Cys254Tyr						p.C254Y	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	3	772	-			254			Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.761G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321742	0.60634	.	.	ENSG00000115850	ENST00000264162	T	0.28895	1.59	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.63843	1.955	0.52099	D	0.999948	D	0.89917	1.0	D	0.71184	0.972	T	0.48875	-0.8996	10	0.49607	T	0.09	-33.2762	16.7153	0.85396	0.0:1.0:0.0:0.0	.	254	P09848	LPH_HUMAN	Y	254	ENSP00000264162:C254Y	ENSP00000264162:C254Y	C	-	2	0	LCT	136303676	1.000000	0.71417	0.995000	0.50966	0.523000	0.34469	4.287000	0.59001	2.723000	0.93209	0.563000	0.77884	TGC		PASS	0.423	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		32	151	32	151	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247999	149247999	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:149247999C>G	ENST00000407073.1	+	12	5096	c.4099C>G	c.(4099-4101)Cca>Gca	p.P1367A	MBD5_ENST00000404807.1_Missense_Mutation_p.P1600A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1367					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P1367A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTAAGGAACCCAGACTCCCC	0.453																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(4099-4101)CCA>GCA		methyl-CpG binding domain protein 5							86.0	88.0	87.0					2																	149247999		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247999C>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4099C>G	2.37:g.149247999C>G	ENSP00000386049:p.Pro1367Ala					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.P1367A|MBD5_uc002two.2_Missense_Mutation_p.P625A|MBD5_uc002twp.2_Missense_Mutation_p.P417A	p.P1367A	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5087	+			1367					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.4099C>G	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578642	0.65878	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.62788	0.26;0.0	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000015	T	0.70745	0.3259	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.73388	-0.3998	10	0.66056	D	0.02	-6.7144	20.0628	0.97684	0.0:1.0:0.0:0.0	.	1600;1367	E9PHH0;Q9P267	.;MBD5_HUMAN	A	1367;1600	ENSP00000386049:P1367A;ENSP00000384672:P1600A	ENSP00000384672:P1600A	P	+	1	0	MBD5	148964469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.240000	0.78192	2.745000	0.94114	0.655000	0.94253	CCA		PASS	0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			30	119	30	119	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711815	155711815	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:155711815G>T	ENST00000295101.2	+	3	1973	c.1496G>T	c.(1495-1497)cGc>cTc	p.R499L		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	499					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.R499L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AACTCTGATCGCTTCACATAA	0.408																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1495-1497)CGC>CTC		potassium inwardly-rectifying channel J3	Halothane(DB01159)						17.0	17.0	17.0					2																	155711815		2203	4299	6502	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711815G>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1496G>T	2.37:g.155711815G>T	ENSP00000295101:p.Arg499Leu					KCNJ3_uc010zce.1_3'UTR	p.R499L	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1691	+			499			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1496G>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689815	0.68271	.	.	ENSG00000162989	ENST00000295101	D	0.91011	-2.77	5.66	5.66	0.87406	.	0.684706	0.14130	N	0.339456	D	0.91858	0.7423	N	0.19112	0.55	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	D	0.92297	0.5846	10	0.87932	D	0	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	499	P48549	IRK3_HUMAN	L	499	ENSP00000295101:R499L	ENSP00000295101:R499L	R	+	2	0	KCNJ3	155420061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.404000	0.97306	2.832000	0.97577	0.655000	0.94253	CGC		PASS	0.408	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		5	22	5	22	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170092442	170092442	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:170092442T>C	ENST00000263816.3	-	29	5113	c.4828A>G	c.(4828-4830)Aga>Gga	p.R1610G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1610					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R1610G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TAGAGCAGTCTGTTGGGGTAG	0.498																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4828-4830)AGA>GGA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						129.0	114.0	119.0					2																	170092442		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170092442T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4828A>G	2.37:g.170092442T>C	ENSP00000263816:p.Arg1610Gly						p.R1610G	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	29	5041	-			1610			LDL-receptor class B 13.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4828A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372902	0.61624	.	.	ENSG00000081479	ENST00000263816	D	0.95137	-3.62	5.59	4.42	0.53409	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.091610	0.64402	D	0.000001	D	0.90923	0.7147	L	0.50993	1.605	0.80722	D	1	P	0.35328	0.495	B	0.27170	0.077	D	0.89322	0.3641	10	0.62326	D	0.03	.	12.7895	0.57526	0.0:0.0:0.1416:0.8584	.	1610	P98164	LRP2_HUMAN	G	1610	ENSP00000263816:R1610G	ENSP00000263816:R1610G	R	-	1	2	LRP2	169800688	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.262000	0.72514	1.037000	0.40024	0.533000	0.62120	AGA		PASS	0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		21	83	21	83	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179474495	179474495	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:179474495G>T	ENST00000591111.1	-	222	46956	c.46732C>A	c.(46732-46734)Caa>Aaa	p.Q15578K	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q8346K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q8154K|TTN_ENST00000589042.1_Missense_Mutation_p.Q17219K|TTN_ENST00000342992.6_Missense_Mutation_p.Q14651K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q8279K			Q8WZ42	TITIN_HUMAN	titin	15578	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q14651K(2)|p.Q8279K(1)|p.Q8154K(1)|p.Q8346K(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)			ACACGGAATTGGTACTCTTTC	0.473																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(43951-43953)CAA>AAA		titin isoform N2-A							340.0	322.0	328.0					2																	179474495		1911	4121	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474495G>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.46732C>A	2.37:g.179474495G>T	ENSP00000465570:p.Gln15578Lys					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q8346K|TTN_uc010zfi.1_Missense_Mutation_p.Q8279K|TTN_uc010zfj.1_Missense_Mutation_p.Q8154K	p.Q14651K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44175	-			15578					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.43951C>A		.	.	.	.	.	.	.	.	.	.	G	13.31	2.200342	0.38905	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.85	4.97	0.65823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41673	0.1169	N	0.20401	0.57	0.41113	D	0.985752	B;B;B;B	0.15141	0.012;0.012;0.012;0.012	B;B;B;B	0.14578	0.011;0.011;0.011;0.011	T	0.31223	-0.9951	9	0.87932	D	0	.	16.4585	0.84029	0.0:0.0:0.8678:0.1322	.	8154;8279;8346;15578	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14651;8154;8346;8279;8154	ENSP00000343764:Q14651K;ENSP00000434586:Q8154K;ENSP00000340554:Q8346K;ENSP00000352154:Q8279K	ENSP00000340554:Q8346K	Q	-	1	0	TTN	179182740	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.572000	0.60886	1.453000	0.47775	0.655000	0.94253	CAA		PASS	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		168	492	168	492	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179571596	179571596	+	Silent	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:179571596G>A	ENST00000591111.1	-	99	28400	c.28176C>T	c.(28174-28176)gtC>gtT	p.V9392V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V9709V|TTN_ENST00000342992.6_Silent_p.V8465V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13490	Ig-like 77.				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.V8465V(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)			TACTTTCTACGACTCTGATAC	0.353																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(25393-25395)GTC>GTT		titin isoform N2-A							58.0	53.0	54.0					2																	179571596		1854	4091	5945	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571596G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28176C>T	2.37:g.179571596G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V5126V	p.V8465V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		98	25619	-			9392					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.25395C>T																																																																																					PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	22	4	22	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526420	234526420	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr2:234526420G>C	ENST00000373450.4	+	1	130	c.67G>C	c.(67-69)Gct>Cct	p.A23P		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	25					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.A23P(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)	CTGTGGCTTTGCTGAGGCAGG	0.587																																						uc002vup.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(67-69)GCT>CCT		UDP glycosyltransferase 1 family, polypeptide A8							98.0	82.0	87.0					2																	234526420		2203	4300	6503	SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234526420G>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	ENST00000373450.4:c.67G>C	2.37:g.234526420G>C	ENSP00000362549:p.Ala23Pro					UGT1A8_uc010zmv.1_Missense_Mutation_p.A23P	p.A23P	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	130	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	23					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.67G>C	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315644	0.23908	.	.	ENSG00000242366	ENST00000373450	T	0.60548	0.18	3.96	2.12	0.27331	.	.	.	.	.	T	0.56411	0.1983	M	0.83774	2.66	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.15484	0.013;0.013	T	0.55829	-0.8079	9	0.72032	D	0.01	.	4.8234	0.13403	0.1851:0.0:0.5455:0.2694	.	23;23	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	P	23	ENSP00000362549:A23P	ENSP00000362549:A23P	A	+	1	0	UGT1A8	234191159	0.000000	0.05858	0.001000	0.08648	0.090000	0.18270	0.016000	0.13377	0.451000	0.26802	0.505000	0.49811	GCT		PASS	0.587	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			16	97	16	97	---	---	---	---
UBE2E2	7325	broad.mit.edu	37	3	23541139	23541139	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr3:23541139A>T	ENST00000396703.1	+	4	448	c.268A>T	c.(268-270)Act>Tct	p.T90S	UBE2E2_ENST00000425792.1_Missense_Mutation_p.T90S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	90					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.T90S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						ATGGAGGTCAACTATATTGGG	0.398																																					GBM(85;1941 2083 9456)	uc003ccg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)ACT>TCT		ubiquitin-conjugating enzyme E2E 2							105.0	98.0	100.0					3																	23541139		2203	4300	6503	SO:0001583	missense	7325				ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity	g.chr3:23541139A>T	AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"""Ubiquitin-conjugating enzymes E2"""	12478	protein-coding gene	gene with protein product		602163	"""ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"""			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.268A>T	3.37:g.23541139A>T	ENSP00000379931:p.Thr90Ser					UBE2E2_uc010hfc.2_Intron	p.T90S	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN			4	448	+			90						Missense_Mutation	SNP	ENST00000396703.1	37	c.268A>T	CCDS2637.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798315	0.90538	.	.	ENSG00000182247	ENST00000425792;ENST00000452894;ENST00000396703	T;T;T	0.54071	0.59;0.59;0.59	5.84	5.84	0.93424	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.50137	0.1598	L	0.43701	1.375	0.58432	D	0.999995	P	0.50066	0.931	B	0.43575	0.424	T	0.54918	-0.8221	10	0.62326	D	0.03	.	15.8917	0.79303	1.0:0.0:0.0:0.0	.	90	Q96LR5	UB2E2_HUMAN	S	90;114;90	ENSP00000401053:T90S;ENSP00000392800:T114S;ENSP00000379931:T90S	ENSP00000379931:T90S	T	+	1	0	UBE2E2	23516143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.228000	0.72767	0.533000	0.62120	ACT		PASS	0.398	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2	NM_152653		27	54	27	54	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100018112	100018112	+	Silent	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr3:100018112C>T	ENST00000394144.4	+	10	1036	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	TBC1D23_ENST00000344949.5_Silent_p.C343C|TBC1D23_ENST00000475134.1_Silent_p.C206C|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	343	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.C343C(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGGTGGATTGCCGTCCTGCAG	0.378																																						uc003dtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(1027-1029)TGC>TGT		TBC1 domain family, member 23							141.0	129.0	133.0					3																	100018112		2203	4300	6503	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100018112C>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1029C>T	3.37:g.100018112C>T						TBC1D23_uc003dts.2_Silent_p.C343C	p.C343C	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			10	1206	+			343			Rhodanese.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.1029C>T	CCDS56265.1																																																																																				PASS	0.378	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		4	186	4	186	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101383876	101383876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr3:101383876G>A	ENST00000312938.4	-	4	2135	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	519					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.R519*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGTGTAGTCGAATATATGCC	0.428																																						uc003dve.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1555-1557)CGA>TGA		zinc finger protein ZNF-U69274							182.0	172.0	176.0					3																	101383876		2203	4300	6503	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383876G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1555C>T	3.37:g.101383876G>A	ENSP00000326200:p.Arg519*						p.R519*	NM_014415	NP_055230	O95625	ZBT11_HUMAN			4	1785	-			519					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.1555C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	41	8.570352	0.98868	.	.	ENSG00000066422	ENST00000312938	.	.	.	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5201	14.3542	0.66724	0.0:0.0:0.6201:0.3799	.	.	.	.	X	519	.	ENSP00000326200:R519X	R	-	1	2	ZBTB11	102866566	1.000000	0.71417	0.999000	0.59377	0.387000	0.30353	2.353000	0.44089	1.547000	0.49401	-0.169000	0.13324	CGA		PASS	0.428	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		56	415	56	415	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140401373	140401373	+	Silent	SNP	C	C	T	rs143388392	byFrequency	TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr3:140401373C>T	ENST00000286349.3	+	2	602	c.411C>T	c.(409-411)aaC>aaT	p.N137N		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	137						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.N137N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TACCAGCCAACAGTCACCTGG	0.577																																						uc003eto.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(409-411)AAC>AAT		tripartite motif-containing 42							121.0	117.0	118.0					3																	140401373		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401373C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.411C>T	3.37:g.140401373C>T							p.N137N	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	602	+			137					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.411C>T	CCDS3113.1																																																																																				PASS	0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		24	152	24	152	---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151463350	151463350	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr3:151463350C>A	ENST00000356517.3	+	4	594	c.485C>A	c.(484-486)gCt>gAt	p.A162D		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	162						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A162D(1)|p.A140D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GATGGCCTTGCTGCAGTCAAA	0.408																																						uc003ezc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(484-486)GCT>GAT		arylacetamide deacetylase-like 2 precursor							116.0	130.0	126.0					3																	151463350		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151463350C>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.485C>A	3.37:g.151463350C>A	ENSP00000348911:p.Ala162Asp					AADACL2_uc010hvn.2_Translation_Start_Site	p.A162D	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	605	+			162					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.485C>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.800369	0.00611	.	.	ENSG00000197953	ENST00000356517	T	0.12039	2.72	4.71	1.7	0.24286	Alpha/beta hydrolase fold-3 (1);	0.872265	0.10319	N	0.689009	T	0.11239	0.0274	L	0.39898	1.24	0.18873	N	0.999984	B	0.09022	0.002	B	0.11329	0.006	T	0.34329	-0.9833	10	0.24483	T	0.36	-2.887	8.1821	0.31317	0.2747:0.6449:0.0:0.0804	.	162	Q6P093	ADCL2_HUMAN	D	162	ENSP00000348911:A162D	ENSP00000348911:A162D	A	+	2	0	AADACL2	152946040	0.098000	0.21812	0.027000	0.17364	0.001000	0.01503	1.705000	0.37867	0.699000	0.31761	-0.182000	0.12963	GCT		PASS	0.408	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		12	472	12	472	---	---	---	---
P2RY1	5028	broad.mit.edu	37	3	152554155	152554155	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr3:152554155G>A	ENST00000305097.3	+	1	1420	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	195					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.R195H(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACCGGGGTCCGCAAAAACAAA	0.522																																						uc003ezq.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	lung(1)	1						c.(583-585)CGC>CAC		purinergic receptor P2Y1							163.0	145.0	151.0					3																	152554155		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554155G>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.584G>A	3.37:g.152554155G>A	ENSP00000304767:p.Arg195His						p.R195H	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1420	+			195			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000305097.3	37	c.584G>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604421	0.66445	.	.	ENSG00000169860	ENST00000305097	T	0.27104	1.69	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.305852	0.30311	N	0.009911	T	0.40473	0.1118	L	0.52905	1.665	0.22666	N	0.99887	D	0.54207	0.965	P	0.52710	0.707	T	0.19614	-1.0300	10	0.46703	T	0.11	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	195	P47900	P2RY1_HUMAN	H	195	ENSP00000304767:R195H	ENSP00000304767:R195H	R	+	2	0	P2RY1	154036845	0.982000	0.34865	0.722000	0.30670	0.662000	0.39071	3.410000	0.52664	2.706000	0.92434	0.655000	0.94253	CGC		PASS	0.522	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		6	164	6	164	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73986694	73986694	+	Silent	SNP	A	A	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr4:73986694A>G	ENST00000358602.4	-	20	3869	c.3753T>C	c.(3751-3753)aaT>aaC	p.N1251N	ANKRD17_ENST00000330838.6_Silent_p.N1000N|ANKRD17_ENST00000509867.2_Silent_p.N1138N|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1251					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N1251N(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGTGTTCCGATTGGTTTCTA	0.438																																						uc003hgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(3751-3753)AAT>AAC		ankyrin repeat domain protein 17 isoform a							159.0	153.0	155.0					4																	73986694		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73986694A>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3753T>C	4.37:g.73986694A>G						ANKRD17_uc003hgo.2_Silent_p.N1138N|ANKRD17_uc003hgq.2_Silent_p.N1000N|ANKRD17_uc003hgr.2_Silent_p.N1250N|ANKRD17_uc011cbd.1_Silent_p.N816N	p.N1251N	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		20	3870	-	Breast(15;0.000295)		1251			ANK 21.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.3753T>C	CCDS34004.1																																																																																				PASS	0.438	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		4	242	4	242	---	---	---	---
CTSO	1519	broad.mit.edu	37	4	156849517	156849517	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr4:156849517G>A	ENST00000433477.3	-	7	971	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	308					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.A301V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TTTGACATGGGCATAACCATC	0.348																																					Pancreas(148;2303 2598 8989 35298)	uc003ipg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)GCC>GTC		cathepsin O preproprotein							113.0	106.0	108.0					4																	156849517		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156849517G>A	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.902C>T	4.37:g.156849517G>A	ENSP00000414904:p.Ala301Val						p.A301V	NM_001334	NP_001325	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	7	951	-	all_hematologic(180;0.24)	Renal(120;0.0458)	301					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.902C>T	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136631	0.09032	.	.	ENSG00000256043	ENST00000433477	T	0.28454	1.61	5.32	4.42	0.53409	Peptidase C1A, papain C-terminal (2);	0.187819	0.47455	N	0.000238	T	0.08447	0.0210	N	0.01096	-1.015	0.40173	D	0.977201	B	0.02656	0.0	B	0.14023	0.01	T	0.13415	-1.0510	10	0.07482	T	0.82	.	6.5827	0.22605	0.3366:0.0:0.6634:0.0	.	301	P43234	CATO_HUMAN	V	301	ENSP00000414904:A301V	ENSP00000281527:A301V	A	-	2	0	CTSO	157068967	1.000000	0.71417	0.993000	0.49108	0.922000	0.55478	1.828000	0.39111	1.146000	0.42352	0.650000	0.86243	GCC		PASS	0.348	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		4	95	4	95	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	163032473	163032473	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr4:163032473C>T	ENST00000306100.5	-	2	512	c.76G>A	c.(76-78)Gga>Aga	p.G26R	FSTL5_ENST00000536695.1_Missense_Mutation_p.G26R|FSTL5_ENST00000379164.4_Missense_Mutation_p.G26R|FSTL5_ENST00000427802.2_Missense_Mutation_p.G26R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	26						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G26R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCATATCCTCCTTCTTTGGTT	0.408																																						uc003iqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(76-78)GGA>AGA		follistatin-like 5 isoform a							167.0	159.0	162.0					4																	163032473		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:163032473C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.76G>A	4.37:g.163032473C>T	ENSP00000305334:p.Gly26Arg					FSTL5_uc003iqi.2_Missense_Mutation_p.G26R|FSTL5_uc010iqv.2_Missense_Mutation_p.G26R	p.G26R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	512	-	all_hematologic(180;0.24)		26					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.76G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343682	0.24339	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72725	-0.66;-0.64;-0.68;-0.64	4.98	2.14	0.27477	.	1.487110	0.04138	N	0.319056	T	0.55289	0.1911	N	0.22421	0.69	0.28695	N	0.904382	B;B;B	0.16603	0.01;0.018;0.01	B;B;B	0.20384	0.013;0.029;0.013	T	0.40251	-0.9573	10	0.14656	T	0.56	.	5.5023	0.16834	0.3673:0.5376:0.0:0.0951	.	26;26;26	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	26	ENSP00000305334:G26R;ENSP00000368462:G26R;ENSP00000389270:G26R;ENSP00000440409:G26R	ENSP00000305334:G26R	G	-	1	0	FSTL5	163251923	0.563000	0.26594	0.787000	0.31911	0.421000	0.31385	0.632000	0.24583	0.317000	0.23160	0.585000	0.79938	GGA		PASS	0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		46	154	46	154	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919410	13919410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr5:13919410G>A	ENST00000265104.4	-	7	954	c.850C>T	c.(850-852)Cga>Tga	p.R284*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	284	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R284*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCCGCTCGTGGCCCAACG	0.527									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(850-852)CGA>TGA		dynein, axonemal, heavy chain 5							137.0	149.0	145.0					5																	13919410		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919410G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.850C>T	5.37:g.13919410G>A	ENSP00000265104:p.Arg284*					DNAH5_uc003jfe.1_RNA	p.R284*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			7	892	-	Lung NSC(4;0.00476)		284			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.850C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	38	6.970119	0.97971	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.5	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.7594	0.57354	0.0:0.0:0.5864:0.4136	.	.	.	.	X	284	.	ENSP00000265104:R284X	R	-	1	2	DNAH5	13972410	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	4.538000	0.60650	0.643000	0.30638	0.491000	0.48974	CGA		PASS	0.527	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		9	367	9	367	---	---	---	---
CDKL3	51265	broad.mit.edu	37	5	133644403	133644403	+	Silent	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr5:133644403C>T	ENST00000265334.4	-	8	1015	c.897G>A	c.(895-897)ctG>ctA	p.L299L	CDKL3_ENST00000609654.1_Silent_p.L110L|CDKL3_ENST00000435240.2_Silent_p.L4L|CDKL3_ENST00000609383.1_Silent_p.L4L|CDKL3_ENST00000523832.1_Silent_p.L299L|CDKL3_ENST00000521118.1_Silent_p.L299L|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_Silent_p.L110L|CDKL3_ENST00000435211.1_Silent_p.L299L|CDKL3_ENST00000536186.1_Silent_p.L4L	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	299					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.L299L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTAGCTTTCAGTTCTGGCA	0.299																																						uc003kzf.3																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(895-897)CTG>CTA		cyclin-dependent kinase-like 3 isoform 1							38.0	36.0	37.0					5																	133644403		1824	4074	5898	SO:0001819	synonymous_variant	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133644403C>T	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.897G>A	5.37:g.133644403C>T						CDKL3_uc011cxm.1_Silent_p.L106L|CDKL3_uc011cxn.1_RNA|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Silent_p.L4L|CDKL3_uc011cxp.1_Silent_p.L4L|CDKL3_uc011cxq.1_Silent_p.L106L|CDKL3_uc003kzg.3_Silent_p.L299L	p.L299L	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1016	-			299					D3DQA0|D3DQA1|Q9P114	Silent	SNP	ENST00000265334.4	37	c.897G>A	CCDS47264.1																																																																																				PASS	0.299	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		10	24	10	24	---	---	---	---
RPP40	10799	broad.mit.edu	37	6	5004203	5004203	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr6:5004203G>A	ENST00000380051.2	-	1	78	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	RPP40_ENST00000464646.1_5'Flank|RPP40_ENST00000319533.5_Missense_Mutation_p.R12W	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	12					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)	ribonuclease P activity (GO:0004526)	p.R12W(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				AGTAAGTGCCGCGGCGCCTCC	0.672											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mwl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CGG>TGG		ribonuclease P 40kDa subunit							55.0	52.0	53.0					6																	5004203		2202	4300	6502	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5004203G>A	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.34C>T	6.37:g.5004203G>A	ENSP00000369391:p.Arg12Trp		OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	623	uc003mwn.1_Intron|RPP40_uc003mwm.2_Missense_Mutation_p.R12W	p.R12W	NM_006638	NP_006629	O75818	RPP40_HUMAN			1	69	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	12					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.34C>T	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629011	0.46944	.	.	ENSG00000124787	ENST00000380051;ENST00000319533	T;T	0.58797	0.51;0.31	4.43	3.54	0.40534	.	0.071171	0.56097	D	0.000032	T	0.65502	0.2697	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.725;0.997	T	0.71220	-0.4657	10	0.87932	D	0	-0.1331	13.1017	0.59224	0.0:0.1628:0.8372:0.0	.	12;12	O75818-2;O75818	.;RPP40_HUMAN	W	12	ENSP00000369391:R12W;ENSP00000317998:R12W	ENSP00000317998:R12W	R	-	1	2	RPP40	4949202	0.972000	0.33761	0.677000	0.29947	0.001000	0.01503	1.674000	0.37544	1.053000	0.40415	-0.310000	0.09108	CGG		PASS	0.672	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		32	56	32	56	---	---	---	---
HIST1H4B	8366	broad.mit.edu	37	6	26027399	26027399	+	Missense_Mutation	SNP	G	G	C	rs201003635		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr6:26027399G>C	ENST00000377364.3	-	1	81	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	28					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.Q28E(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						GTGATGCCTTGGATGTTATCC	0.542																																						uc003nfr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(82-84)CAA>GAA		histone cluster 1, H4b							70.0	63.0	66.0					6																	26027399		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027399G>C	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.82C>G	6.37:g.26027399G>C	ENSP00000366581:p.Gln28Glu						p.Q28E	NM_003544	NP_003535	P62805	H4_HUMAN			1	82	-			28					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.82C>G	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	g	14.00	2.404831	0.42613	.	.	ENSG00000124529	ENST00000377364	T	0.67865	-0.29	4.65	4.65	0.58169	.	0.000000	0.52532	U	0.000068	T	0.75236	0.3822	.	.	.	0.43499	D	0.995744	.	.	.	.	.	.	T	0.78084	-0.2342	7	0.62326	D	0.03	.	17.4106	0.87484	0.0:0.0:1.0:0.0	.	.	.	.	E	28	ENSP00000366581:Q28E	ENSP00000366581:Q28E	Q	-	1	0	HIST1H4B	26135378	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	9.452000	0.97615	2.506000	0.84524	0.563000	0.77884	CAA		PASS	0.542	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		15	112	15	112	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47681951	47681951	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr6:47681951G>A	ENST00000283303.2	+	6	1228	c.970G>A	c.(970-972)Gtt>Att	p.V324I	GPR115_ENST00000371220.1_Missense_Mutation_p.V381I|GPR115_ENST00000327753.3_Missense_Mutation_p.V324I|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	324					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V324I(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCTATCAGTGGTTTTACCAGA	0.468																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(970-972)GTT>ATT		G-protein coupled receptor 115 precursor							78.0	83.0	81.0					6																	47681951		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681951G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.970G>A	6.37:g.47681951G>A	ENSP00000283303:p.Val324Ile					GPR115_uc003oyz.1_Missense_Mutation_p.V381I|GPR115_uc003ozb.1_Missense_Mutation_p.V322I	p.V324I	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1228	+			324			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.970G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.091781	0.00364	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.34072	1.61;1.38;1.38	5.19	2.13	0.27403	.	0.638756	0.15394	N	0.264656	T	0.03011	0.0089	N	0.02315	-0.6	0.24048	N	0.99606	B	0.02656	0.0	B	0.06405	0.002	T	0.44937	-0.9295	10	0.07990	T	0.79	-7.3683	4.3768	0.11274	0.3457:0.0:0.4862:0.1681	.	324	Q8IZF3	GP115_HUMAN	I	381;324;324	ENSP00000360264:V381I;ENSP00000328319:V324I;ENSP00000283303:V324I	ENSP00000283303:V324I	V	+	1	0	GPR115	47789910	0.378000	0.25114	0.993000	0.49108	0.082000	0.17680	0.511000	0.22739	0.557000	0.29117	0.655000	0.94253	GTT		PASS	0.468	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		37	164	37	164	---	---	---	---
LCA5	167691	broad.mit.edu	37	6	80203424	80203424	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr6:80203424C>A	ENST00000392959.1	-	5	1375	c.764G>T	c.(763-765)cGa>cTa	p.R255L	LCA5_ENST00000369846.4_Missense_Mutation_p.R255L|LCA5_ENST00000467898.3_Missense_Mutation_p.R255L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	255					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.R255L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AAGCAACTGTCGTTGGAAACT	0.338																																						uc003pix.2																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)CGA>CTA		Leber congenital amaurosis 5							124.0	115.0	118.0					6																	80203424		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80203424C>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.764G>T	6.37:g.80203424C>A	ENSP00000376686:p.Arg255Leu					LCA5_uc003piy.2_Missense_Mutation_p.R255L|LCA5_uc011dyq.1_RNA	p.R255L	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	1199	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	255			Potential.		E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.764G>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678124	0.88542	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.81078	-1.45;-1.45	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.79011	2.435	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	D	0.89535	0.3788	10	0.87932	D	0	-11.2498	18.1394	0.89634	0.0:1.0:0.0:0.0	.	255	Q86VQ0	LCA5_HUMAN	L	255	ENSP00000358861:R255L;ENSP00000376686:R255L	ENSP00000358861:R255L	R	-	2	0	LCA5	80260143	0.994000	0.37717	1.000000	0.80357	0.890000	0.51754	5.422000	0.66453	2.690000	0.91761	0.591000	0.81541	CGA		PASS	0.338	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		16	107	16	107	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20738138	20738138	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr7:20738138C>T	ENST00000404938.2	+	17	2771	c.2119C>T	c.(2119-2121)Cca>Tca	p.P707S	ABCB5_ENST00000258738.6_Missense_Mutation_p.P262S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	707	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.P262S(1)|p.P707S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AACTGTTCATCCAGTATTTTC	0.333																																						uc003suw.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(784-786)CCA>TCA		ATP-binding cassette, sub-family B, member 5							68.0	67.0	68.0					7																	20738138		2202	4298	6500	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20738138C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2119C>T	7.37:g.20738138C>T	ENSP00000384881:p.Pro707Ser					ABCB5_uc010kuh.2_Missense_Mutation_p.P707S	p.P262S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			8	1330	+			262			Helical; (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.784C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728786	0.69074	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90385	-2.66;-2.66	5.35	4.45	0.53987	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000012	D	0.96318	0.8799	H	0.95151	3.63	0.47476	D	0.999433	D;D	0.76494	0.999;0.999	D;D	0.79108	0.986;0.992	D	0.96461	0.9341	10	0.87932	D	0	.	12.1518	0.54053	0.0:0.9152:0.0:0.0848	.	707;262	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	S	707;262	ENSP00000384881:P707S;ENSP00000258738:P262S	ENSP00000258738:P262S	P	+	1	0	ABCB5	20704663	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	3.224000	0.51238	2.777000	0.95525	0.591000	0.81541	CCA		PASS	0.333	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		16	69	16	69	---	---	---	---
NT5C3A	51251	broad.mit.edu	37	7	33061712	33061712	+	Splice_Site	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr7:33061712C>G	ENST00000242210.7	-	4	399		c.e4-1		NT5C3A_ENST00000381626.2_Splice_Site|NT5C3A_ENST00000409787.1_Splice_Site|NT5C3A_ENST00000409467.1_Splice_Site|NT5C3A_ENST00000396152.2_Splice_Site|NT5C3A_ENST00000610140.1_Splice_Site|NT5C3A_ENST00000405342.1_Splice_Site|AVL9_ENST00000404479.1_Intron	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA						dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.?(2)									TCAATGATATCTAAAGATAGA	0.294																																						uc003tdk.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e4-1		5'-nucleotidase, cytosolic III isoform 1							128.0	117.0	121.0					7																	33061712		2197	4296	6493	SO:0001630	splice_region_variant	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33061712C>G	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.323-1G>C	7.37:g.33061712C>G						AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Splice_Site_p.N69_splice|NT5C3_uc003tdj.2_Splice_Site_p.N69_splice	p.N108_splice	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		4	400	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Splice_Site	SNP	ENST00000242210.7	37	c.323_splice	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197928	0.79015	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1868	0.93647	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NT5C3	33028237	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.367000	0.79558	2.550000	0.86006	0.563000	0.77884	.		PASS	0.294	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	Intron	15	38	15	38	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73461084	73461084	+	Silent	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr7:73461084C>G	ENST00000252034.7	+	12	1029	c.630C>G	c.(628-630)gcC>gcG	p.A210A	ELN_ENST00000380576.5_Silent_p.A210A|ELN_ENST00000380584.4_Silent_p.A210A|ELN_ENST00000380562.4_Silent_p.A210A|ELN_ENST00000320399.6_Silent_p.A210A|ELN_ENST00000380553.4_Silent_p.A107A|ELN_ENST00000380575.4_Silent_p.A200A|ELN_ENST00000445912.1_Silent_p.A210A|ELN_ENST00000414324.1_Silent_p.A205A|ELN_ENST00000429192.1_Silent_p.A215A|ELN_ENST00000358929.4_Silent_p.A210A|ELN_ENST00000458204.1_Silent_p.A200A|ELN_ENST00000320492.7_Silent_p.A188A|ELN_ENST00000357036.5_Silent_p.A215A	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	210					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.A210A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCATCAAGGCCCCCAAGCTGC	0.592			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2				Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(628-630)GCC>GCG		elastin isoform a precursor	Rofecoxib(DB00533)						56.0	56.0	56.0					7																	73461084		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73461084C>G		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.630C>G	7.37:g.73461084C>G						RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.A179A|ELN_uc003tzn.2_Silent_p.A210A|ELN_uc003tzz.2_Silent_p.A188A|ELN_uc003tzo.2_Silent_p.A210A|ELN_uc003tzp.2_Silent_p.A166A|ELN_uc003tzq.2_Silent_p.A107A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A210A|ELN_uc003tzt.2_Silent_p.A215A|ELN_uc003tzu.2_Silent_p.A215A|ELN_uc003tzv.2_Silent_p.A200A|ELN_uc003tzx.2_Silent_p.A200A|ELN_uc011kff.1_Silent_p.A210A|ELN_uc003tzy.2_Silent_p.A205A	p.A210A	NM_000501	NP_001075224	P15502	ELN_HUMAN			12	721	+		Lung NSC(55;0.159)	210					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.630C>G	CCDS5562.2																																																																																				PASS	0.592	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		13	47	13	47	---	---	---	---
GPC2	221914	broad.mit.edu	37	7	99769784	99769784	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr7:99769784C>A	ENST00000292377.2	-	6	1116	c.949G>T	c.(949-951)Gcc>Tcc	p.A317S	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	317					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A317S(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGACTCGGCCGTCAGCTCA	0.552																																						uc003utv.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(949-951)GCC>TCC		glypican 2 precursor							74.0	68.0	70.0					7																	99769784		2203	4300	6503	SO:0001583	missense	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99769784C>A	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.949G>T	7.37:g.99769784C>A	ENSP00000292377:p.Ala317Ser					GPC2_uc010lgr.2_RNA	p.A317S	NM_152742	NP_689955	Q8N158	GPC2_HUMAN			6	1117	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		317					A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	c.949G>T	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421934	0.43020	.	.	ENSG00000213420	ENST00000292377	T	0.51325	0.71	5.1	1.92	0.25849	.	0.515454	0.20809	N	0.085288	T	0.37128	0.0992	L	0.40543	1.245	0.20196	N	0.999927	B	0.25772	0.134	B	0.34093	0.175	T	0.35126	-0.9801	10	0.62326	D	0.03	-22.0182	4.7166	0.12898	0.1653:0.5524:0.0:0.2822	.	317	Q8N158	GPC2_HUMAN	S	317	ENSP00000292377:A317S	ENSP00000292377:A317S	A	-	1	0	GPC2	99607720	0.002000	0.14202	0.362000	0.25862	0.702000	0.40608	0.276000	0.18716	0.547000	0.28938	0.484000	0.47621	GCC		PASS	0.552	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		25	67	25	67	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121753257	121753257	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr7:121753257C>A	ENST00000393376.1	-	10	1288	c.1193G>T	c.(1192-1194)tGt>tTt	p.C398F	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.C398F			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	398	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.C398F(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GTCAATGGAACACATCAGGAT	0.413																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1192-1194)TGT>TTT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						94.0	85.0	88.0					7																	121753257		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121753257C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1193G>T	7.37:g.121753257C>A	ENSP00000377040:p.Cys398Phe					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.C398F|AASS_uc011knw.1_Intron	p.C398F	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			10	1289	-			398			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1193G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394548	0.83011	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.83250	-1.7;-1.7	4.95	4.95	0.65309	Alanine dehydrogenase/PNT, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	M	0.83012	2.62	0.80722	D	1	D	0.62365	0.991	D	0.65987	0.94	D	0.91290	0.5058	10	0.45353	T	0.12	-14.9418	18.576	0.91155	0.0:1.0:0.0:0.0	.	398	Q9UDR5	AASS_HUMAN	F	398	ENSP00000377040:C398F;ENSP00000403768:C398F	ENSP00000351834:C398F	C	-	2	0	AASS	121540493	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.455000	0.83008	0.650000	0.86243	TGT		PASS	0.413	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		25	80	25	80	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135099078	135099078	+	Splice_Site	SNP	A	A	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr7:135099078A>C	ENST00000315544.5	-	5	841		c.e5+1		CNOT4_ENST00000541284.1_Splice_Site|CNOT4_ENST00000414802.1_Splice_Site|CNOT4_ENST00000423368.2_Splice_Site|CNOT4_ENST00000361528.4_Splice_Site|CNOT4_ENST00000451834.1_Splice_Site|CNOT4_ENST00000428680.2_Splice_Site|CNOT4_ENST00000356162.4_Splice_Site	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(4)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGACTATATTACCTTAAGTGT	0.358																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1																			4	Unknown(4)		lung(4)		0						c.e5+1		CCR4-NOT transcription complex, subunit 4							140.0	135.0	137.0					7																	135099078		1857	4093	5950	SO:0001630	splice_region_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135099078A>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.561+1T>G	7.37:g.135099078A>C						CNOT4_uc003vss.2_Splice_Site_p.K187_splice|CNOT4_uc011kpz.1_Splice_Site_p.K187_splice|CNOT4_uc003vst.2_Splice_Site_p.K187_splice|CNOT4_uc003vsu.1_Splice_Site_p.K187_splice|CNOT4_uc011kpy.1_Splice_Site_p.K187_splice	p.K187_splice	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			5	868	-								B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Splice_Site	SNP	ENST00000315544.5	37	c.561_splice	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451037	0.84209	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.469	0.61271	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNOT4	134749618	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.930000	0.92872	2.122000	0.65172	0.460000	0.39030	.		PASS	0.358	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316	Intron	6	257	6	257	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151879142	151879142	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr7:151879142G>A	ENST00000262189.6	-	36	6021	c.5803C>T	c.(5803-5805)Ccc>Tcc	p.P1935S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1935S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1935	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1935S(2)									ATTTGAAGGGGCCTAGATACC	0.463																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(5803-5805)CCC>TCC		myeloid/lymphoid or mixed-lineage leukemia 3							101.0	105.0	103.0					7																	151879142		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879142G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5803C>T	7.37:g.151879142G>A	ENSP00000262189:p.Pro1935Ser					MLL3_uc003wkz.2_Missense_Mutation_p.P996S	p.P1935S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	6022	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1935			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5803C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275013	0.10403	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84442	-1.84;-1.85	5.41	4.33	0.51752	.	0.000000	0.44688	D	0.000424	T	0.76307	0.3969	L	0.32530	0.975	0.80722	D	1	B;B	0.24258	0.049;0.1	B;B	0.26310	0.021;0.068	T	0.70857	-0.4758	10	0.30078	T	0.28	.	9.6518	0.39902	0.0845:0.0:0.7721:0.1435	.	1935;996	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1935	ENSP00000262189:P1935S;ENSP00000347325:P1935S	ENSP00000262189:P1935S	P	-	1	0	MLL3	151510075	1.000000	0.71417	0.997000	0.53966	0.499000	0.33736	1.201000	0.32259	2.540000	0.85666	0.563000	0.77884	CCC		PASS	0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			45	148	45	148	---	---	---	---
DEFA5	1670	broad.mit.edu	37	8	6914113	6914113	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr8:6914113C>T	ENST00000330590.2	-	1	143	c.107G>A	c.(106-108)gGg>gAg	p.G36E		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	36					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)		p.G36E(1)		NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GTTGTCTTCCCCAGACTGCTT	0.527																																						uc003wra.1																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)GGG>GAG		defensin, alpha 5 preproprotein							157.0	142.0	147.0					8																	6914113		2203	4300	6503	SO:0001583	missense	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6914113C>T	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.107G>A	8.37:g.6914113C>T	ENSP00000329890:p.Gly36Glu						p.G36E	NM_021010	NP_066290	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	147	-			36					A0JDY6|Q3KNV2	Missense_Mutation	SNP	ENST00000330590.2	37	c.107G>A	CCDS5963.1	.	.	.	.	.	.	.	.	.	.	.	5.553	0.286958	0.10513	.	.	ENSG00000164816	ENST00000330590	T	0.35605	1.3	2.85	-5.71	0.02413	Defensin propeptide (1);	0.426065	0.17348	N	0.177494	T	0.21186	0.0510	.	.	.	0.09310	N	1	B	0.20887	0.049	B	0.26693	0.072	T	0.09707	-1.0662	9	0.44086	T	0.13	.	6.9596	0.24590	0.1629:0.5985:0.0:0.2385	.	36	Q01523	DEF5_HUMAN	E	36	ENSP00000329890:G36E	ENSP00000329890:G36E	G	-	2	0	DEFA5	6901523	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.926000	0.01562	-1.415000	0.02022	-1.263000	0.01449	GGG		PASS	0.527	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1	NM_021010		41	164	41	164	---	---	---	---
PRSS55	203074	broad.mit.edu	37	8	10383111	10383111	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr8:10383111G>A	ENST00000328655.3	+	1	56	c.16G>A	c.(16-18)Gtg>Atg	p.V6M	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.V6M	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	6						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.V6M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCTGTTCTCAGTGTTGCTGCT	0.652																																						uc003wta.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)GTG>ATG		hypothetical protein LOC203074 precursor							98.0	80.0	86.0					8																	10383111		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10383111G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.16G>A	8.37:g.10383111G>A	ENSP00000333003:p.Val6Met					uc010lru.2_Intron	p.V6M	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			1	31	+			6					E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.16G>A	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170291	0.21621	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.89485	-2.52;-2.51	3.39	-5.09	0.02920	.	.	.	.	.	T	0.71904	0.3395	N	0.08118	0	0.09310	N	1	P	0.40476	0.718	B	0.36885	0.235	T	0.66073	-0.6014	9	0.87932	D	0	.	5.5572	0.17123	0.5195:0.2801:0.2004:0.0	.	6	Q6UWB4	PRS55_HUMAN	M	6	ENSP00000333003:V6M;ENSP00000430459:V6M	ENSP00000333003:V6M	V	+	1	0	PRSS55	10420521	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.312000	0.08113	-1.350000	0.02199	-0.282000	0.10007	GTG		PASS	0.652	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		20	100	20	100	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209072	28209072	+	Silent	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr8:28209072C>G	ENST00000344423.5	-	7	1304	c.1173G>C	c.(1171-1173)ggG>ggC	p.G391G	ZNF395_ENST00000523202.1_Silent_p.G391G|ZNF395_ENST00000523095.1_Silent_p.G391G	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G391G(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCTGAGAGCCCCTGAGGGCA	0.627																																						uc003xgq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)GGG>GGC		zinc finger protein 395							73.0	81.0	78.0					8																	28209072		2203	4300	6503	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209072C>G	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1173G>C	8.37:g.28209072C>G						ZNF395_uc003xgt.2_Silent_p.G391G|ZNF395_uc003xgr.2_Silent_p.G391G|ZNF395_uc003xgs.2_Silent_p.G391G	p.G391G	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1261	-		Ovarian(32;2.06e-05)	391					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.1173G>C	CCDS6067.1																																																																																				PASS	0.627	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			54	144	54	144	---	---	---	---
SDC2	6383	broad.mit.edu	37	8	97620689	97620689	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr8:97620689G>T	ENST00000302190.4	+	4	1354	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	SDC2_ENST00000522911.1_Missense_Mutation_p.V116F|SDC2_ENST00000519914.1_Missense_Mutation_p.V116F|SDC2_ENST00000518385.1_Missense_Mutation_p.V109F	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	145					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.V145F(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	ACGGACAGAAGTCCTAGCAGG	0.478																																						uc003yhv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(433-435)GTC>TTC		syndecan 2 precursor	Sargramostim(DB00020)						84.0	84.0	84.0					8																	97620689		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97620689G>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.433G>T	8.37:g.97620689G>T	ENSP00000307046:p.Val145Phe					SDC2_uc011lgu.1_Missense_Mutation_p.V116F	p.V145F	NM_002998	NP_002989	P34741	SDC2_HUMAN			4	1051	+	Breast(36;3.41e-05)		145			Helical; (Potential).		B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.433G>T	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021845	0.93462	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.51817	0.94;1.08;0.99;0.99;0.69	6.17	6.17	0.99709	.	0.113483	0.64402	D	0.000013	T	0.67757	0.2927	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66909	-0.5804	10	0.87932	D	0	-22.184	19.0599	0.93085	0.0:0.0:1.0:0.0	.	145	P34741	SDC2_HUMAN	F	145;109;145;135;116;116;116;116	ENSP00000307046:V145F;ENSP00000429045:V109F;ENSP00000427784:V116F;ENSP00000428256:V116F;ENSP00000429121:V116F	ENSP00000307046:V145F	V	+	1	0	SDC2	97689865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.543000	0.90651	2.941000	0.99782	0.655000	0.94253	GTC		PASS	0.478	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		24	117	24	117	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132999873	132999873	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr8:132999873C>A	ENST00000254624.5	+	18	2214	c.1989C>A	c.(1987-1989)aaC>aaA	p.N663K	EFR3A_ENST00000334503.4_Missense_Mutation_p.N663K|EFR3A_ENST00000519656.1_Missense_Mutation_p.N627K	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	663						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.N663K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCTGACCAACAAGATTGCAG	0.373																																						uc003yte.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1987-1989)AAC>AAA		EFR3 homolog A							91.0	76.0	81.0					8																	132999873		2201	4299	6500	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132999873C>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1989C>A	8.37:g.132999873C>A	ENSP00000254624:p.Asn663Lys						p.N663K	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		18	2190	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		663					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1989C>A	CCDS34942.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.978|6.978	0.550521|0.550521	0.13374|0.13374	.|.	.|.	ENSG00000132294|ENSG00000132294	ENST00000377917|ENST00000254624;ENST00000407309;ENST00000334503;ENST00000519656	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	6.07|6.07	4.24|4.24	0.50183|0.50183	.|.	.|0.132923	.|0.64402	.|D	.|0.000002	T|T	0.32194|0.32194	0.0821|0.0821	L|L	0.58101|0.58101	1.795|1.795	0.41020|0.41020	D|D	0.985079|0.985079	.|P	.|0.35139	.|0.486	.|B	.|0.38225	.|0.268	T|T	0.07673|0.07673	-1.0760|-1.0760	6|10	0.06099|0.48119	T|T	0.92|0.1	-26.2203|-26.2203	10.4033|10.4033	0.44241|0.44241	0.0:0.8364:0.0:0.1636|0.0:0.8364:0.0:0.1636	.|.	.|663	.|Q14156	.|EFR3A_HUMAN	Q|K	619|663;42;663;627	.|ENSP00000254624:N663K;ENSP00000334769:N663K;ENSP00000428086:N627K	ENSP00000367150:H619Q|ENSP00000254624:N663K	H|N	+|+	3|3	2|2	EFR3A|EFR3A	133069055|133069055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.994000|0.994000	0.29693|0.29693	0.834000|0.834000	0.34852|0.34852	0.655000|0.655000	0.94253|0.94253	CAC|AAC		PASS	0.373	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		7	27	7	27	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144943084	144943084	+	Silent	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr8:144943084G>T	ENST00000525985.1	-	2	4409	c.4338C>A	c.(4336-4338)acC>acA	p.T1446T				P58107	EPIPL_HUMAN	epiplakin 1	1446						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.T1446T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGCCACCGCGGTGTGGTCGT	0.622																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(4336-4338)ACC>ACA		epiplakin 1							41.0	45.0	44.0					8																	144943084		2190	4277	6467	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943084G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4338C>A	8.37:g.144943084G>T							p.T1446T	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	4351	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1446					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.4338C>A																																																																																					PASS	0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	54	3	54	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13183448	13183448	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr9:13183448T>C	ENST00000319217.7	-	19	2865	c.2618A>G	c.(2617-2619)tAt>tGt	p.Y873C	MPDZ_ENST00000536827.1_Missense_Mutation_p.Y873C|MPDZ_ENST00000381015.4_Missense_Mutation_p.Y873C|MPDZ_ENST00000447879.1_Missense_Mutation_p.Y873C|MPDZ_ENST00000541718.1_Missense_Mutation_p.Y873C|MPDZ_ENST00000546205.1_Missense_Mutation_p.Y873C|MPDZ_ENST00000381022.2_Missense_Mutation_p.Y873C	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	873					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.Y873C(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGAAGAACCATAGTTCAGGCC	0.403																																						uc010mia.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(2617-2619)TAT>TGT		multiple PDZ domain protein							99.0	92.0	94.0					9																	13183448		1888	4114	6002	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13183448T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2618A>G	9.37:g.13183448T>C	ENSP00000320006:p.Tyr873Cys					MPDZ_uc010mhy.2_Missense_Mutation_p.Y873C|MPDZ_uc010mhz.2_Missense_Mutation_p.Y873C|MPDZ_uc011lmn.1_Missense_Mutation_p.Y873C|MPDZ_uc003zlb.3_Missense_Mutation_p.Y873C	p.Y873C	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	18	2675	-			873					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.2618A>G		.	.	.	.	.	.	.	.	.	.	T	16.50	3.140600	0.56936	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.13778	2.62;2.58;2.58;2.56;2.59;2.62;2.63	5.75	4.61	0.57282	.	0.000000	0.39475	N	0.001356	T	0.22551	0.0544	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66716	0.844;0.94;0.946	T	0.00989	-1.1489	10	0.44086	T	0.13	.	11.3137	0.49379	0.2415:0.0:0.0:0.7585	.	873;873;873	B7ZMI4;O75970-3;O75970-2	.;.;.	C	873;873;873;873;873;873;823;873	ENSP00000320006:Y873C;ENSP00000439807:Y873C;ENSP00000370410:Y873C;ENSP00000444151:Y873C;ENSP00000415208:Y873C;ENSP00000370403:Y873C;ENSP00000446358:Y873C	ENSP00000320006:Y873C	Y	-	2	0	MPDZ	13173448	0.959000	0.32827	0.992000	0.48379	0.905000	0.53344	1.597000	0.36729	0.989000	0.38761	0.528000	0.53228	TAT		PASS	0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		9	26	9	26	---	---	---	---
ACO1	48	broad.mit.edu	37	9	32408522	32408522	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr9:32408522G>A	ENST00000309951.6	+	4	415	c.277G>A	c.(277-279)Gct>Act	p.A93T	ACO1_ENST00000379923.1_Missense_Mutation_p.A93T|ACO1_ENST00000541043.1_De_novo_Start_OutOfFrame	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	93					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.A93T(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGGTGTGCCCGCTGTGGTTGA	0.408																																						uc003zqw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(277-279)GCT>ACT		aconitase 1							148.0	139.0	142.0					9																	32408522		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32408522G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.277G>A	9.37:g.32408522G>A	ENSP00000309477:p.Ala93Thr					ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.A93T|ACO1_uc003zqy.3_RNA	p.A93T	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	4	432	+			93					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.277G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953666	0.73902	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.66099	-0.19;-0.19	5.96	5.06	0.68205	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.144431	0.64402	D	0.000006	T	0.72787	0.3504	M	0.90082	3.085	0.80722	D	1	B	0.32101	0.356	B	0.37239	0.244	T	0.76950	-0.2769	10	0.87932	D	0	-18.2451	15.6203	0.76802	0.0:0.0:0.8615:0.1385	.	93	P21399	ACOC_HUMAN	T	129;93;93;93	ENSP00000309477:A93T;ENSP00000369255:A93T	ENSP00000309477:A93T	A	+	1	0	ACO1	32398522	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	7.922000	0.87538	1.486000	0.48398	0.655000	0.94253	GCT		PASS	0.408	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		39	281	39	281	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35403942	35403942	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr9:35403942G>A	ENST00000378495.3	+	39	4910	c.4688G>A	c.(4687-4689)cGg>cAg	p.R1563Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.R1594Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1582Q|ATP8B5P_ENST00000430846.1_RNA	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1563					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R1563Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACCATTCTCCGGATTTTATCT	0.552																																						uc003zwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(4687-4689)CGG>CAG		UNC13 (C. elegans)-like							76.0	77.0	77.0					9																	35403942		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35403942G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4688G>A	9.37:g.35403942G>A	ENSP00000367756:p.Arg1563Gln					UNC13B_uc003zwr.2_Missense_Mutation_p.R1582Q|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	p.R1563Q	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		39	4980	+	all_epithelial(49;0.212)		1563					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.4688G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767694	0.90020	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.87491	-2.04;-1.99;-2.26	5.95	5.05	0.67936	.	0.063718	0.64402	D	0.000005	D	0.94282	0.8163	M	0.86953	2.85	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	D	0.95227	0.8339	10	0.87932	D	0	-20.3422	16.6487	0.85183	0.0:0.0:0.8691:0.1309	.	1582;1563	F8W8M9;O14795	.;UN13B_HUMAN	Q	1594;1563;1582;1169	ENSP00000380006:R1594Q;ENSP00000367756:R1563Q;ENSP00000367757:R1582Q	ENSP00000367756:R1563Q	R	+	2	0	UNC13B	35393942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.760000	0.98935	1.509000	0.48786	0.655000	0.94253	CGG		PASS	0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		23	621	23	621	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606081	84606081	+	Silent	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr9:84606081G>A	ENST00000344803.2	+	4	743	c.696G>A	c.(694-696)aaG>aaA	p.K232K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	232	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.K232K(2)									TGGATTCCAAGTTCCCCATAG	0.537																																						uc004amn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(694-696)AAG>AAA		hypothetical protein LOC389763							133.0	123.0	126.0					9																	84606081		1819	4054	5873	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84606081G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.696G>A	9.37:g.84606081G>A							p.K232K	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	743	+			232			Pro-rich.			Silent	SNP	ENST00000344803.2	37	c.696G>A	CCDS47986.1																																																																																				PASS	0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		85	228	85	228	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90497821	90497821	+	Silent	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr9:90497821C>T	ENST00000325643.5	+	1	81	c.15C>T	c.(13-15)gtC>gtT	p.V5V		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	5					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V5V(1)									GAAATCTCGTCATCCCTCTAG	0.607																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(13-15)GTC>GTT		chromosome 9 open reading frame 79							62.0	54.0	57.0					9																	90497821		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90497821C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.15C>T	9.37:g.90497821C>T						C9orf79_uc004apo.1_Silent_p.V5V	p.V5V	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			1	50	+			5					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.15C>T	CCDS6676.1																																																																																				PASS	0.607	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		18	51	18	51	---	---	---	---
ERCC6L2	375748	broad.mit.edu	37	9	98775342	98775342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr9:98775342G>T	ENST00000407474.3	+	4	1966	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1515					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.E485*(1)									GACTCTGTGTGAAAAAGCACC	0.393																																						uc010msa.1																			1	Substitution - Nonsense(1)		lung(1)								c.(1453-1455)GAA>TAA		RecName: Full=Uncharacterized protein C9orf102;							37.0	40.0	39.0					9																	98775342		2202	4300	6502	SO:0001587	stop_gained	0							g.chr9:98775342G>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1453G>T	9.37:g.98775342G>T	ENSP00000384365:p.Glu485*					uc011lun.1_Intron	p.E485*							4	2329	+								A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	ENST00000407474.3	37	c.1453G>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.246721	0.80024	.	.	ENSG00000182150	ENST00000407474	.	.	.	5.46	4.56	0.56223	.	0.529672	0.17497	N	0.172128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.5502	0.61728	0.0752:0.0:0.9248:0.0	.	.	.	.	X	485	.	ENSP00000384365:E485X	E	+	1	0	C9orf102	97815163	1.000000	0.71417	0.980000	0.43619	0.844000	0.47949	4.695000	0.61767	1.525000	0.49052	0.650000	0.86243	GAA		PASS	0.393	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		21	46	21	46	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38343662	38343662	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr10:38343662G>C	ENST00000458705.2	+	5	765	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	ZNF33A_ENST00000307441.9_Missense_Mutation_p.E203Q|ZNF33A_ENST00000374618.3_Missense_Mutation_p.E204Q|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E210Q|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E203K(1)|p.E203Q(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GAGTCATCATGAGGAGACTTT	0.348																																						uc001izh.2																			2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(2)|skin(1)	3						c.(607-609)GAG>CAG		zinc finger protein 33A isoform b							80.0	79.0	80.0					10																	38343662		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343662G>C	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.607G>C	10.37:g.38343662G>C	ENSP00000387713:p.Glu203Gln					ZNF33A_uc001izg.2_Missense_Mutation_p.E204Q|ZNF33A_uc010qev.1_Missense_Mutation_p.E210Q|ZNF33A_uc001izi.1_Intron	p.E203Q	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	785	+			203					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.607G>C	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	4.400	0.073859	0.08485	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.06142	3.34;3.35;3.34;3.34	1.68	1.68	0.24146	.	0.676432	0.12138	N	0.496083	T	0.11793	0.0287	M	0.62723	1.935	0.09310	N	1	P;P;D	0.53151	0.734;0.911;0.958	B;B;P	0.49140	0.301;0.311;0.601	T	0.13737	-1.0498	10	0.59425	D	0.04	.	9.3384	0.38065	0.0:0.0:1.0:0.0	.	210;203;204	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Q	204;210;203;203	ENSP00000363747:E204Q;ENSP00000402467:E210Q;ENSP00000387713:E203Q;ENSP00000304268:E203Q	ENSP00000304268:E203Q	E	+	1	0	ZNF33A	38383668	.	.	0.017000	0.16124	0.006000	0.05464	.	.	1.239000	0.43787	0.460000	0.39030	GAG		PASS	0.348	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		27	108	27	108	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98383279	98383279	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr10:98383279C>A	ENST00000339364.5	-	11	1804	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.S161I|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S384I	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	562					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.S562I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCGCTCTTGACTTTTTTCTGC	0.343																																						uc001kmq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1684-1686)AGT>ATT		phosphoinositide-3-kinase adaptor protein 1							155.0	165.0	162.0					10																	98383279		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98383279C>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1685G>T	10.37:g.98383279C>A	ENSP00000339826:p.Ser562Ile					PIK3AP1_uc001kmo.2_Missense_Mutation_p.S161I|PIK3AP1_uc001kmp.2_Missense_Mutation_p.S384I	p.S562I	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	11	1813	-		Colorectal(252;0.0442)	562					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1685G>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155486	0.57259	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.24723	2.88;2.2;1.84	5.59	3.71	0.42584	.	0.778923	0.12700	N	0.446420	T	0.25457	0.0619	L	0.40543	1.245	0.26487	N	0.975017	P;D	0.53151	0.919;0.958	P;P	0.47981	0.483;0.563	T	0.08994	-1.0695	10	0.51188	T	0.08	-0.944	6.3432	0.21335	0.0:0.5281:0.3128:0.1591	.	562;161	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	I	562;384;161	ENSP00000339826:S562I;ENSP00000360151:S384I;ENSP00000360150:S161I	ENSP00000339826:S562I	S	-	2	0	PIK3AP1	98373269	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.819000	0.27308	0.696000	0.31696	0.491000	0.48974	AGT		PASS	0.343	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		88	314	88	314	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120802059	120802059	+	Silent	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr10:120802059G>A	ENST00000369144.3	-	19	3100	c.2973C>T	c.(2971-2973)aaC>aaT	p.N991N	EIF3A_ENST00000541549.1_Silent_p.N957N	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.N991N(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATCATCTGTGTTACGCCAGG	0.582																																						uc001ldu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2971-2973)AAC>AAT		eukaryotic translation initiation factor 3,							188.0	157.0	168.0					10																	120802059		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802059G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2973C>T	10.37:g.120802059G>A						EIF3A_uc010qsu.1_Silent_p.N957N|EIF3A_uc009xzg.1_Silent_p.N30N	p.N991N	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3119	-		Lung NSC(174;0.094)|all_lung(145;0.123)	991			7.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.2973C>T	CCDS7608.1																																																																																				PASS	0.582	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		55	162	55	162	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068546	5068546	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:5068546G>T	ENST00000380370.1	+	1	791	c.791G>T	c.(790-792)cGa>cTa	p.R264L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264L(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTACTCATCGATTTGGACAC	0.443																																						uc010qyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(790-792)CGA>CTA		olfactory receptor, family 52, subfamily J,							228.0	209.0	216.0					11																	5068546		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068546G>T	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.791G>T	11.37:g.5068546G>T	ENSP00000369728:p.Arg264Leu						p.R264L	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	791	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	264			Extracellular (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.791G>T	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219161	0.22373	.	.	ENSG00000205495	ENST00000380370	T	0.34667	1.35	4.19	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.185603	0.25961	N	0.027199	T	0.67040	0.2851	M	0.91872	3.25	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65809	-0.6078	10	0.72032	D	0.01	.	14.8684	0.70434	0.0:0.0:0.8536:0.1464	.	264	Q8NH60	O52J3_HUMAN	L	264	ENSP00000369728:R264L	ENSP00000369728:R264L	R	+	2	0	OR52J3	5025122	0.406000	0.25344	0.128000	0.21923	0.001000	0.01503	2.422000	0.44696	0.410000	0.25675	-0.808000	0.03180	CGA		PASS	0.443	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		73	329	73	329	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17191060	17191061	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:17191060_17191061CC>GA	ENST00000265970.7	-	1	227_228	c.228_229GG>TC	c.(226-231)atGGtg>atTCtg	p.76_77MV>IL	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	76	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.V77L(1)|p.M76_V77>IL(1)|p.M76I(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TCAGGAAACACCATGAGATCAT	0.391																																						uc001mmq.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(229-231)GTG>CTG|c.(226-228)ATG>ATT		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)																																			SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17191060C>G|g.chr11:17191061C>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.228_229delinsGA	11.37:g.17191060_17191061delinsGA	ENSP00000265970:p.M76_V77delinsIL					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.V77L|PIK3C2A_uc009ygv.1_Missense_Mutation_p.V77L|PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.M76I|PIK3C2A_uc009ygv.1_Missense_Mutation_p.M76I	p.V77L|p.M76I	NM_002645	NP_002636	O00443	P3C2A_HUMAN			1	295|294	-			77|76			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.229G>C|c.228G>T	CCDS7824.1																																																																																				PASS	0.391	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		14	511|517	14	511	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20673901	20673901	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:20673901T>A	ENST00000525748.1	+	15	2410	c.2137T>A	c.(2137-2139)Tgg>Agg	p.W713R	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	713					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.W713R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTATCCTAACTGGTCCATGGT	0.468																																						uc001mqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2137-2139)TGG>AGG		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						237.0	212.0	221.0					11																	20673901		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20673901T>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2137T>A	11.37:g.20673901T>A	ENSP00000434364:p.Trp713Arg					SLC6A5_uc009yic.2_Missense_Mutation_p.W478R	p.W713R	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			15	2410	+			713					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2137T>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.608474	0.87258	.	.	ENSG00000165970	ENST00000525748	T	0.80123	-1.34	5.88	5.88	0.94601	.	0.114954	0.64402	D	0.000004	D	0.92136	0.7507	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93850	0.7144	10	0.87932	D	0	.	16.3485	0.83171	0.0:0.0:0.0:1.0	.	713	Q9Y345	SC6A5_HUMAN	R	713	ENSP00000434364:W713R	ENSP00000434364:W713R	W	+	1	0	SLC6A5	20630477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.259000	0.74868	0.529000	0.55759	TGG		PASS	0.468	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		114	206	114	206	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433015	55433015	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:55433015T>A	ENST00000314259.3	+	1	402	c.373T>A	c.(373-375)Tgt>Agt	p.C125S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125S(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CGTGGCCATCTGTAAGCCCCT	0.542																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(373-375)TGT>AGT		olfactory receptor, family 4, subfamily C,							107.0	98.0	101.0					11																	55433015		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433015T>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.373T>A	11.37:g.55433015T>A	ENSP00000324769:p.Cys125Ser					OR4C6_uc010rik.1_Missense_Mutation_p.C125S	p.C125S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	638	+			125			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.373T>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329252	0.81690	.	.	ENSG00000181903	ENST00000314259	T	0.33438	1.41	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.175448	0.27754	N	0.017990	T	0.51890	0.1701	M	0.86178	2.8	0.36191	D	0.850108	D	0.53462	0.96	P	0.56916	0.809	T	0.67542	-0.5644	10	0.72032	D	0.01	.	11.4632	0.50223	0.0:0.0:0.0:1.0	.	125	Q8NH72	OR4C6_HUMAN	S	125	ENSP00000324769:C125S	ENSP00000324769:C125S	C	+	1	0	OR4C6	55189591	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.873000	0.63057	1.383000	0.46405	0.438000	0.28831	TGT		PASS	0.542	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		79	128	79	128	---	---	---	---
SLC22A25	387601	broad.mit.edu	37	11	62931543	62931543	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:62931543C>A	ENST00000306494.6	-	9	1396	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.G466V(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGTAGCTCTTCCCCTTGGAGT	0.403																																						uc001nwr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1396-1398)GGA>GTA		putative UST1-like organic anion transporter							107.0	118.0	114.0					11																	62931543		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62931543C>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1397G>T	11.37:g.62931543C>A	ENSP00000307443:p.Gly466Val					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA	p.G466V	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			9	1397	-			466			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.1397G>T	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	6.289	0.421480	0.11928	.	.	ENSG00000196600	ENST00000306494	T	0.71222	-0.55	4.03	0.822	0.18806	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343731	0.29830	N	0.011093	T	0.39489	0.1080	N	0.01705	-0.755	0.38811	D	0.955428	B	0.16166	0.016	B	0.21360	0.034	T	0.15065	-1.0450	10	0.44086	T	0.13	.	7.1021	0.25343	0.0:0.3251:0.4947:0.1803	.	466	Q6T423	S22AP_HUMAN	V	466	ENSP00000307443:G466V	ENSP00000307443:G466V	G	-	2	0	SLC22A25	62688119	0.000000	0.05858	0.758000	0.31321	0.006000	0.05464	-0.297000	0.08276	0.480000	0.27534	-1.276000	0.01395	GGA		PASS	0.403	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		58	255	58	255	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99715991	99715991	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:99715991G>T	ENST00000524871.1	+	6	864	c.574G>T	c.(574-576)Gcc>Tcc	p.A192S	CNTN5_ENST00000527185.1_Missense_Mutation_p.A192S|CNTN5_ENST00000279463.3_Missense_Mutation_p.A192S|CNTN5_ENST00000418526.2_Missense_Mutation_p.A118S|CNTN5_ENST00000528682.1_Missense_Mutation_p.A192S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	192					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A192S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACTGCAGTTTGCCTGTGAGTA	0.328																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(574-576)GCC>TCC		contactin 5 isoform long							109.0	102.0	104.0					11																	99715991		1813	4078	5891	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715991G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.574G>T	11.37:g.99715991G>T	ENSP00000435637:p.Ala192Ser					CNTN5_uc009ywv.1_Missense_Mutation_p.A192S|CNTN5_uc001pfz.2_Missense_Mutation_p.A192S|CNTN5_uc001pgb.2_Missense_Mutation_p.A118S	p.A192S	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	6	913	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	192					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.574G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909760	0.72983	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.74546	2.27	0.80722	D	1	P;B;P	0.35401	0.499;0.289;0.499	B;B;B	0.40066	0.295;0.318;0.221	T	0.54589	-0.8271	10	0.56958	D	0.05	.	19.0307	0.92955	0.0:0.0:1.0:0.0	.	192;118;192	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	S	192;192;192;118;192	ENSP00000433575:A192S;ENSP00000436185:A192S;ENSP00000435637:A192S;ENSP00000393229:A118S;ENSP00000279463:A192S	ENSP00000279463:A192S	A	+	1	0	CNTN5	99221201	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.397000	0.97276	2.745000	0.94114	0.650000	0.86243	GCC		PASS	0.328	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		38	155	38	155	---	---	---	---
ANGPTL5	253935	broad.mit.edu	37	11	101765758	101765758	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:101765758T>C	ENST00000334289.3	-	8	1294	c.699A>G	c.(697-699)atA>atG	p.I233M		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	233	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.I233M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCTGATTTACTATATAAAAAA	0.274																																						uc001pgl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)ATA>ATG		angiopoietin-like 5 precursor							42.0	45.0	44.0					11																	101765758		2199	4296	6495	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101765758T>C	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.699A>G	11.37:g.101765758T>C	ENSP00000335255:p.Ile233Met						p.I233M	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	8	1295	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	233			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.699A>G	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934984	0.52866	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	D;D	0.97303	-1.56;-4.33	5.38	0.116	0.14647	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044050	0.85682	D	0.000000	D	0.95762	0.8621	L	0.42008	1.315	0.46096	D	0.998862	D	0.56746	0.977	P	0.58721	0.844	D	0.92811	0.6264	10	0.72032	D	0.01	.	5.9187	0.19070	0.3632:0.0:0.2428:0.394	.	233	Q86XS5	ANGL5_HUMAN	M	233;168	ENSP00000335255:I233M;ENSP00000433562:I168M	ENSP00000335255:I233M	I	-	3	3	ANGPTL5	101270968	0.833000	0.29383	0.999000	0.59377	0.909000	0.53808	-0.269000	0.08596	0.011000	0.14865	-0.344000	0.07964	ATA		PASS	0.274	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		40	61	40	61	---	---	---	---
YAP1	10413	broad.mit.edu	37	11	102080293	102080293	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:102080293C>A	ENST00000282441.5	+	6	1418	c.1030C>A	c.(1030-1032)Cag>Aag	p.Q344K	YAP1_ENST00000526343.1_Intron|YAP1_ENST00000524575.1_Missense_Mutation_p.Q166K|YAP1_ENST00000345877.2_Intron|YAP1_ENST00000537274.1_Intron|YAP1_ENST00000531439.1_Intron	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	344	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Q344K(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCCAAAATGTCAGGTAGGCTC	0.358																																					Colon(50;247 1103 7861 28956)	uc001pgt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1030-1032)CAG>AAG		Yes-associated protein 1, 65kDa isoform 1							135.0	119.0	124.0					11																	102080293		1568	3581	5149	SO:0001583	missense	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102080293C>A		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1030C>A	11.37:g.102080293C>A	ENSP00000282441:p.Gln344Lys					YAP1_uc001pgs.2_Intron|YAP1_uc001pgu.2_Intron|YAP1_uc001pgv.2_Intron|YAP1_uc010ruo.1_Missense_Mutation_p.Q166K|YAP1_uc001pgw.2_Missense_Mutation_p.Q168K|YAP1_uc010rup.1_Missense_Mutation_p.Q109K	p.Q344K	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	6	1400	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	344			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.1030C>A	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196778	0.79015	.	.	ENSG00000137693	ENST00000282441;ENST00000445250;ENST00000524575	T	0.44482	0.92	6.17	6.17	0.99709	.	0.300120	0.32120	N	0.006543	T	0.59459	0.2195	L	0.58101	1.795	0.80722	D	1	P;D;D	0.63880	0.713;0.993;0.975	P;D;D	0.75020	0.761;0.985;0.949	T	0.45991	-0.9223	10	0.10111	T	0.7	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	166;261;344	B4DTY1;F5GWC5;P46937	.;.;YAP1_HUMAN	K	344;261;166	ENSP00000435602:Q166K	ENSP00000282441:Q344K	Q	+	1	0	YAP1	101585503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.770000	0.62309	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.358	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		294	110	294	110	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431061	49431061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr12:49431061G>A	ENST00000301067.7	-	34	10077	c.10078C>T	c.(10078-10080)Cag>Tag	p.Q3360*	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3360	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3090*(1)|p.Q3360*(1)									CCTCCATGCTGCCCACTTAGC	0.602																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(10078-10080)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							38.0	40.0	39.0					12																	49431061		2123	4251	6374	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431061G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10078C>T	12.37:g.49431061G>A	ENSP00000301067:p.Gln3360*	HNSCC(34;0.089)					p.Q3360*	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	10078	-			3360			Gln-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.10078C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	51	17.565008	0.99889	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.61	4.67	0.58626	.	0.000000	0.36409	N	0.002604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2333	0.82358	0.0:0.1327:0.8673:0.0	.	.	.	.	X	3360	.	ENSP00000301067:Q3360X	Q	-	1	0	MLL2	47717328	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.425000	0.73370	2.826000	0.97356	0.655000	0.94253	CAG		PASS	0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	23	9	23	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49438218	49438218	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr12:49438218C>G	ENST00000301067.7	-	20	5050	c.5051G>C	c.(5050-5052)aGc>aCc	p.S1684T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1684					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S1411T(1)|p.S1684T(1)									GCGTTTTTTGCTTTCCTCGGT	0.597											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5050-5052)AGC>ACC		myeloid/lymphoid or mixed-lineage leukemia 2							127.0	132.0	130.0					12																	49438218		1963	4151	6114	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49438218C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5051G>C	12.37:g.49438218C>G	ENSP00000301067:p.Ser1684Thr	HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.S1684T	NM_003482	NP_003473	O14686	MLL2_HUMAN			20	5051	-			1684					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.5051G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111596	0.37242	.	.	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	5.1	5.1	0.69264	.	0.000000	0.45867	D	0.000330	T	0.64692	0.2621	L	0.38175	1.15	0.29890	N	0.825329	P	0.48764	0.915	B	0.35859	0.212	T	0.71206	-0.4661	10	0.87932	D	0	.	10.9524	0.47336	0.2911:0.7089:0.0:0.0	.	1684	O14686	MLL2_HUMAN	T	1684	ENSP00000301067:S1684T	ENSP00000301067:S1684T	S	-	2	0	MLL2	47724485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.491000	0.53252	2.644000	0.89710	0.655000	0.94253	AGC		PASS	0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			29	104	29	104	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72936106	72936106	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr12:72936106G>T	ENST00000261180.4	+	7	1719	c.1623G>T	c.(1621-1623)atG>atT	p.M541I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	541					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M541I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTAATTTTATGGGCCATTCAG	0.308																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1621-1623)ATG>ATT		thyrotropin-releasing hormone degrading enzyme							122.0	120.0	120.0					12																	72936106		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72936106G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1623G>T	12.37:g.72936106G>T	ENSP00000261180:p.Met541Ile						p.M541I	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			7	1653	+			541			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1623G>T	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.555772|2.555772	0.45487|0.45487	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.03951	.|3.75	5.25|5.25	4.34|4.34	0.51931|0.51931	.|.	.|0.127189	.|0.64402	.|D	.|0.000001	T|T	0.03915|0.03915	0.0110|0.0110	N|N	0.16478|0.16478	0.41|0.41	0.58432|0.58432	D|D	0.999996|0.999996	.|B	.|0.22683	.|0.073	.|B	.|0.13407	.|0.009	T|T	0.48007|0.48007	-0.9072|-0.9072	5|10	.|0.19590	.|T	.|0.45	.|.	16.0116|16.0116	0.80406|0.80406	0.0:0.135:0.865:0.0|0.0:0.135:0.865:0.0	.|.	.|541	.|Q9UKU6	.|TRHDE_HUMAN	W|I	129|541	.|ENSP00000261180:M541I	.|ENSP00000261180:M541I	G|M	+|+	1|3	0|0	TRHDE|TRHDE	71222373|71222373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.070000|7.070000	0.76763|0.76763	1.305000|1.305000	0.44909|0.44909	0.561000|0.561000	0.74099|0.74099	GGG|ATG		PASS	0.308	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		19	54	19	54	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101702101	101702101	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr12:101702101C>G	ENST00000261637.4	+	18	2308	c.2134C>G	c.(2134-2136)Cct>Gct	p.P712A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	712					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P712A(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GACTGCTGTCCCTGATGGGCC	0.393																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(2134-2136)CCT>GCT		down-regulated in metastasis							115.0	111.0	112.0					12																	101702101		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101702101C>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2134C>G	12.37:g.101702101C>G	ENSP00000261637:p.Pro712Ala						p.P712A	NM_014503	NP_055318	O75691	UTP20_HUMAN			18	2290	+			712					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.2134C>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	6.385	0.439153	0.12104	.	.	ENSG00000120800	ENST00000261637	T	0.20332	2.08	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.49455	1.56	0.80722	D	1	B	0.30870	0.298	B	0.26770	0.073	T	0.04708	-1.0932	10	0.08381	T	0.77	-17.5824	18.0384	0.89312	0.0:1.0:0.0:0.0	.	712	O75691	UTP20_HUMAN	A	712	ENSP00000261637:P712A	ENSP00000261637:P712A	P	+	1	0	UTP20	100226232	1.000000	0.71417	0.850000	0.33497	0.127000	0.20565	6.274000	0.72587	2.687000	0.91594	0.655000	0.94253	CCT		PASS	0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		36	115	36	115	---	---	---	---
RFC5	5985	broad.mit.edu	37	12	118464747	118464747	+	Silent	SNP	C	C	A	rs369052924		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr12:118464747C>A	ENST00000454402.2	+	8	835	c.717C>A	c.(715-717)acC>acA	p.T239T	RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_Silent_p.T154T|RFC5_ENST00000392542.2_Silent_p.T218T	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	239					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.T239T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACCTGCACCGGGCACCCGC	0.527																																						uc001twq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)ACC>ACA		replication factor C 5 isoform 1							145.0	135.0	138.0					12																	118464747		2203	4300	6503	SO:0001819	synonymous_variant	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118464747C>A		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.717C>A	12.37:g.118464747C>A						RFC5_uc010syx.1_Silent_p.T218T|RFC5_uc010syy.1_Silent_p.T218T|RFC5_uc010syz.1_Silent_p.T154T|RFC5_uc009zwr.2_Silent_p.T239T	p.T239T	NM_007370	NP_031396	P40937	RFC5_HUMAN			8	842	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		239					A8MZ62|B3KSX8	Silent	SNP	ENST00000454402.2	37	c.717C>A	CCDS9185.1																																																																																				PASS	0.527	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		68	174	68	174	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111143635	111143635	+	Silent	SNP	G	G	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr13:111143635G>C	ENST00000360467.5	+	37	3708	c.3402G>C	c.(3400-3402)ggG>ggC	p.G1134G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1134	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1134G(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCTTCCCTGGGATAACAGGCG	0.562																																						uc001vqx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(3400-3402)GGG>GGC		alpha 2 type IV collagen preproprotein							57.0	60.0	59.0					13																	111143635		2017	4172	6189	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111143635G>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3402G>C	13.37:g.111143635G>C							p.G1134G	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		37	3691	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1134			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.3402G>C	CCDS41907.1																																																																																				PASS	0.562	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		4	13	4	13	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296344	20296344	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr14:20296344T>C	ENST00000315947.1	+	1	737	c.737T>C	c.(736-738)gTt>gCt	p.V246A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V246A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATATCATTGTTATATTCTTC	0.483																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(736-738)GTT>GCT		olfactory receptor, family 4, subfamily N,							107.0	111.0	110.0					14																	20296344		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296344T>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.737T>C	14.37:g.20296344T>C	ENSP00000319601:p.Val246Ala						p.V246A	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	737	+	all_cancers(95;0.00108)		246			Helical; Name=6; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.737T>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	16.87	3.242074	0.58995	.	.	ENSG00000176294	ENST00000315947	T	0.00237	8.47	4.66	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.465531	0.18197	N	0.148648	T	0.00356	0.0011	M	0.66297	2.02	0.24072	N	0.995972	P	0.52463	0.953	P	0.53593	0.73	T	0.53592	-0.8417	10	0.72032	D	0.01	-3.0779	12.3423	0.55101	0.0:0.0:0.0:1.0	.	246	Q8NGD1	OR4N2_HUMAN	A	246	ENSP00000319601:V246A	ENSP00000319601:V246A	V	+	2	0	OR4N2	19366184	0.010000	0.17322	0.887000	0.34795	0.580000	0.36256	1.878000	0.39608	2.080000	0.62538	0.477000	0.44152	GTT		PASS	0.483	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			44	429	44	429	---	---	---	---
OR4K2	390431	broad.mit.edu	37	14	20345187	20345187	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr14:20345187G>T	ENST00000298642.2	+	1	797	c.761G>T	c.(760-762)tGc>tTc	p.C254F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C254F(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGGGCCATGCATCTTCATC	0.418																																						uc001vwh.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(760-762)TGC>TTC		olfactory receptor, family 4, subfamily K,							191.0	179.0	183.0					14																	20345187		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345187G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.761G>T	14.37:g.20345187G>T	ENSP00000298642:p.Cys254Phe						p.C254F	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	761	+	all_cancers(95;0.00108)		254			Helical; Name=6; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.761G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.540007	0.45176	.	.	ENSG00000165762	ENST00000298642	T	0.00107	8.72	5.16	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000045	T	0.00384	0.0012	M	0.73753	2.245	0.19300	N	0.999976	B	0.30281	0.275	P	0.50754	0.649	T	0.12785	-1.0534	10	0.66056	D	0.02	.	10.9866	0.47526	0.0:0.0:0.6926:0.3074	.	254	Q8NGD2	OR4K2_HUMAN	F	254	ENSP00000298642:C254F	ENSP00000298642:C254F	C	+	2	0	OR4K2	19415027	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.339000	0.07832	2.681000	0.91329	0.591000	0.81541	TGC		PASS	0.418	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			42	500	42	500	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991220	21991220	+	Missense_Mutation	SNP	G	G	C	rs370371366		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr14:21991220G>C	ENST00000327430.3	-	2	2936	c.2642C>G	c.(2641-2643)cCa>cGa	p.P881R	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.P744R	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	881					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.P881R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTCCCCTTCTGGGGTGAGTGC	0.592																																						uc001wbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2641-2643)CCA>CGA		sal-like 2							62.0	55.0	58.0					14																	21991220		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991220G>C	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2642C>G	14.37:g.21991220G>C	ENSP00000333537:p.Pro881Arg					SALL2_uc010tly.1_Missense_Mutation_p.P879R|SALL2_uc010tlz.1_Missense_Mutation_p.P744R|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P746R|SALL2_uc001wbg.1_Intron	p.P881R	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2924	-	all_cancers(95;0.000662)		881					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.2642C>G	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.169|1.169	-0.641533|-0.641533	0.03531|0.03531	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.04275|.	3.78;3.66|.	4.79|4.79	-0.132|-0.132	0.13489|0.13489	.|.	1.174090|.	0.06739|.	N|.	0.778004|.	T|T	0.15652|0.15652	0.0377|0.0377	N|N	0.14661|0.14661	0.345|0.345	0.24286|0.24286	N|N	0.995188|0.995188	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.21042|0.21042	-1.0257|-1.0257	10|5	0.25106|.	T|.	0.35|.	-1.8818|-1.8818	0.5241|0.5241	0.00617|0.00617	0.2521:0.1654:0.3528:0.2296|0.2521:0.1654:0.3528:0.2296	.|.	744;744;642;881|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	R|E	881;744|740	ENSP00000333537:P881R;ENSP00000396773:P744R|.	ENSP00000333537:P881R|.	P|Q	-|-	2|1	0|0	SALL2|SALL2	21061060|21061060	0.007000|0.007000	0.16637|0.16637	0.158000|0.158000	0.22627|0.22627	0.304000|0.304000	0.27724|0.27724	0.782000|0.782000	0.26788|0.26788	-0.243000|-0.243000	0.09653|0.09653	0.563000|0.563000	0.77884|0.77884	CCA|CAG		PASS	0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		14	49	14	49	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58604947	58604947	+	Missense_Mutation	SNP	C	C	G	rs572182783		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr14:58604947C>G	ENST00000267485.7	-	2	1324	c.1130G>C	c.(1129-1131)gGc>gCc	p.G377A	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	377						integral component of membrane (GO:0016021)		p.G377A(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CAGGGCTGTGCCCGTGTGTGT	0.537																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1129-1131)GGC>GCC		hypothetical protein LOC145407 precursor							146.0	140.0	142.0					14																	58604947		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58604947C>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1130G>C	14.37:g.58604947C>G	ENSP00000267485:p.Gly377Ala					C14orf37_uc010tro.1_Missense_Mutation_p.G415A|C14orf37_uc001xdd.2_Missense_Mutation_p.G377A|C14orf37_uc001xde.2_Missense_Mutation_p.G377A	p.G377A	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	1241	-			377			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1130G>C	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510934	0.27036	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.26518	1.73	5.45	1.58	0.23477	.	0.455403	0.20822	N	0.085052	T	0.28896	0.0717	M	0.61703	1.905	0.09310	N	1	D;D;D;D	0.55385	0.971;0.971;0.971;0.971	P;P;P;P	0.50825	0.572;0.651;0.572;0.572	T	0.10706	-1.0618	10	0.31617	T	0.26	-2.8592	4.8014	0.13298	0.1496:0.6123:0.0:0.2381	.	415;377;377;377	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	A	377;415	ENSP00000267485:G377A	ENSP00000267485:G377A	G	-	2	0	C14orf37	57674700	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.967000	0.03821	0.118000	0.18165	-0.136000	0.14681	GGC		PASS	0.537	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		80	347	80	347	---	---	---	---
EIF2B2	8892	broad.mit.edu	37	14	75475874	75475874	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr14:75475874G>C	ENST00000266126.5	+	8	1119	c.1039G>C	c.(1039-1041)Gat>Cat	p.D347H	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	347					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.D347H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CTACCATCCTGATGATCATGT	0.473																																						uc001xrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1039-1041)GAT>CAT		eukaryotic translation initiation factor 2B,							308.0	256.0	273.0					14																	75475874		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75475874G>C		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.1039G>C	14.37:g.75475874G>C	ENSP00000266126:p.Asp347His						p.D347H	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	8	1121	+			347					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.1039G>C	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535622	0.45176	.	.	ENSG00000119718	ENST00000266126	D	0.90955	-2.76	5.77	5.77	0.91146	.	0.194890	0.53938	D	0.000052	D	0.90195	0.6935	M	0.72118	2.19	0.54753	D	0.999988	B	0.32203	0.36	B	0.34418	0.182	D	0.89190	0.3550	10	0.54805	T	0.06	-20.2262	14.7884	0.69821	0.0:0.0:0.8557:0.1442	.	347	P49770	EI2BB_HUMAN	H	347	ENSP00000266126:D347H	ENSP00000266126:D347H	D	+	1	0	EIF2B2	74545627	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	7.623000	0.83113	2.730000	0.93505	0.655000	0.94253	GAT		PASS	0.473	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		89	234	89	234	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45400380	45400380	+	Missense_Mutation	SNP	G	G	C	rs551638726		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr15:45400380G>C	ENST00000603300.1	-	13	1641	c.1439C>G	c.(1438-1440)tCc>tGc	p.S480C	DUOX2_ENST00000389039.6_Missense_Mutation_p.S480C	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	480	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.S480C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCTAGCTGGGATAGGTCCTG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.001					uc010bea.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1438-1440)TCC>TGC		dual oxidase 2 precursor							57.0	57.0	57.0					15																	45400380		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45400380G>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1439C>G	15.37:g.45400380G>C	ENSP00000475084:p.Ser480Cys					DUOX2_uc001zun.2_Missense_Mutation_p.S480C	p.S480C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	13	1642	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	480			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1439C>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321668	0.81580	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.47	5.47	0.80525	.	0.248270	0.42420	D	0.000707	T	0.77665	0.4164	M	0.79805	2.47	0.49915	D	0.999837	D;D	0.71674	0.971;0.998	P;D	0.67231	0.841;0.95	T	0.80441	-0.1381	9	0.87932	D	0	-26.6034	11.734	0.51755	0.0798:0.0:0.9202:0.0	.	480;42	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	C	480	.	ENSP00000373691:S480C	S	-	2	0	DUOX2	43187672	1.000000	0.71417	0.859000	0.33776	0.789000	0.44602	7.813000	0.86123	2.571000	0.86741	0.655000	0.94253	TCC		PASS	0.617	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		28	91	28	91	---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367720	3367720	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr16:3367720C>T	ENST00000574298.1	+	6	1215	c.742C>T	c.(742-744)Cat>Tat	p.H248Y	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H248Y(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CTTCACATGTCATGAATGTGG	0.388																																						uc002cut.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(742-744)CAT>TAT		zinc finger protein 75a							63.0	61.0	62.0					16																	3367720		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367720C>T	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.742C>T	16.37:g.3367720C>T	ENSP00000459566:p.His248Tyr					ZNF75A_uc002cuv.3_RNA	p.H248Y	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	1268	+			248			C2H2-type 4.		Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.742C>T	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493952	0.26774	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149348	0.31612	N	0.007358	T	0.42177	0.1191	M	0.65677	2.01	0.24947	N	0.991811	B	0.15930	0.015	B	0.13407	0.009	T	0.35525	-0.9785	9	0.41790	T	0.15	.	6.8492	0.24005	0.0:0.794:0.0:0.206	.	248	Q96N20	ZN75A_HUMAN	Y	248	.	ENSP00000293995:H248Y	H	+	1	0	ZNF75A	3307721	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-1.409000	0.02483	1.275000	0.44379	0.557000	0.71058	CAT		PASS	0.388	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		39	121	39	121	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30364863	30364863	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr16:30364863G>A	ENST00000305596.3	-	5	809	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	CD2BP2_ENST00000569466.1_Missense_Mutation_p.R212W|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	212					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.R212W(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						AGGTTGCCCCGGGCCACCATC	0.652																																						uc002dxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(634-636)CGG>TGG		CD2 antigen (cytoplasmic tail) binding protein							43.0	42.0	42.0					16																	30364863		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364863G>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.634C>T	16.37:g.30364863G>A	ENSP00000304903:p.Arg212Trp					CD2BP2_uc002dxs.2_Missense_Mutation_p.R212W	p.R212W	NM_006110	NP_006101	O95400	CD2B2_HUMAN			4	887	-			212					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.634C>T	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	g	16.49	3.136905	0.56936	.	.	ENSG00000169217	ENST00000305596	T	0.33654	1.4	5.32	5.32	0.75619	.	0.406503	0.28493	N	0.015147	T	0.35189	0.0923	L	0.47716	1.5	0.39524	D	0.968554	D	0.56968	0.978	B	0.40410	0.328	T	0.41324	-0.9515	10	0.72032	D	0.01	-1.096	17.7796	0.88519	0.0:0.0:1.0:0.0	.	212	O95400	CD2B2_HUMAN	W	212	ENSP00000304903:R212W	ENSP00000304903:R212W	R	-	1	2	CD2BP2	30272364	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.053000	0.57427	2.486000	0.83907	0.655000	0.94253	CGG		PASS	0.652	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		17	49	17	49	---	---	---	---
ZNF747	65988	broad.mit.edu	37	16	30544471	30544471	+	Splice_Site	SNP	T	T	C	rs142751951		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr16:30544471T>C	ENST00000252799.3	-	2	1152	c.485A>G	c.(484-486)cAg>cGg	p.Q162R	ZNF747_ENST00000535210.1_Splice_Site|AC002310.12_ENST00000569752.1_RNA|ZNF747_ENST00000568028.1_Splice_Site|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000569360.1_Splice_Site|ZNF747_ENST00000395094.3_Splice_Site	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	162					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.Q162R(1)		kidney(1)|lung(3)|prostate(1)	5						TTCTGGAATCTGCTGAAAGAT	0.617																																						uc002dyn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)CAG>CGG		zinc finger protein 747		T	ARG/GLN	0,4394		0,0,2197	66.0	67.0	67.0		485	2.7	1.0	16	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	ZNF747	NM_023931.2	43	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	162/192	30544471	1,12993	2197	4300	6497	SO:0001630	splice_region_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544471T>C	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.484-1A>G	16.37:g.30544471T>C						ZNF768_uc010vex.1_Splice_Site|ZNF747_uc002dyo.1_Intron|ZNF747_uc010vey.1_Intron|uc002dyp.1_5'Flank	p.Q162R	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN			2	679	-			162					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.485A>G	CCDS10682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.70|11.70	1.715624|1.715624	0.30413|0.30413	0.0|0.0	1.16E-4|1.16E-4	ENSG00000169955|ENSG00000169955	ENST00000535210;ENST00000395094|ENST00000252799	.|T	.|0.02158	.|4.42	2.73|2.73	2.73|2.73	0.32206|0.32206	.|.	.|.	.|.	.|.	.|.	.|T	.|0.03220	.|0.0094	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.70227	.|0.968	.|T	.|0.57458	.|-0.7808	.|9	.|0.07030	.|T	.|0.85	.|.	8.9061|8.9061	0.35523|0.35523	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|162	.|Q9BV97	.|ZN747_HUMAN	.|R	-1|162	.|ENSP00000252799:Q162R	.|ENSP00000252799:Q162R	.|Q	-|-	.|2	.|0	ZNF747|ZNF747	30451972|30451972	0.978000|0.978000	0.34361|0.34361	1.000000|1.000000	0.80357|0.80357	0.159000|0.159000	0.22180|0.22180	0.959000|0.959000	0.29240|0.29240	1.265000|1.265000	0.44215|0.44215	0.260000|0.260000	0.18958|0.18958	.|CAG		PASS	0.617	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931	Missense_Mutation	26	73	26	73	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50324372	50324372	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr16:50324372C>T	ENST00000394697.2	+	3	516	c.176C>T	c.(175-177)cCc>cTc	p.P59L	ADCY7_ENST00000566433.2_Missense_Mutation_p.P59L|ADCY7_ENST00000254235.3_Missense_Mutation_p.P59L|ADCY7_ENST00000537579.1_Missense_Mutation_p.P59L|ADCY7_ENST00000538642.1_Missense_Mutation_p.P59L|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	59					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.P59L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		ACCCAGGACCCCTCCAGACAC	0.637																																						uc002egd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(175-177)CCC>CTC		adenylate cyclase 7	Bromocriptine(DB01200)						66.0	58.0	61.0					16																	50324372		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50324372C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.176C>T	16.37:g.50324372C>T	ENSP00000378187:p.Pro59Leu					ADCY7_uc002egb.1_Missense_Mutation_p.P59L|ADCY7_uc002egc.1_Missense_Mutation_p.P59L	p.P59L	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	2	444	+		all_cancers(37;0.0127)	59					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.176C>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	0.818	-0.749671	0.03041	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;T;T;T	0.81247	-0.97;-1.47;-0.97;-1.47	4.81	0.359	0.16088	.	0.691407	0.11681	N	0.539858	T	0.58680	0.2139	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.42172	-0.9467	10	0.22109	T	0.4	.	4.8319	0.13445	0.2551:0.5365:0.1254:0.083	.	59;59	P51828;F5H4D1	ADCY7_HUMAN;.	L	59	ENSP00000445046:P59L;ENSP00000378187:P59L;ENSP00000437788:P59L;ENSP00000254235:P59L	ENSP00000254235:P59L	P	+	2	0	ADCY7	48881873	0.000000	0.05858	0.535000	0.28026	0.238000	0.25445	-0.545000	0.06069	0.577000	0.29470	0.455000	0.32223	CCC		PASS	0.637	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			13	52	13	52	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576851	7576851	+	Splice_Site	SNP	A	A	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr17:7576851A>T	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site	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						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.?(12)|p.0?(8)|p.I332fs*49(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)	AAGACTTAGTACCTGAAGGGT	0.463		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		21	Unknown(12)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.?(8)|p.0?(7)|p.I332fs*49(1)	haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)|breast(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e9+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							116.0	109.0	111.0					17																	7576851		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576851A>T	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.993+1T>A	17.37:g.7576851A>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.Q331_splice|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site_p.Q199_splice|TP53_uc010cng.1_Splice_Site_p.Q199_splice|TP53_uc002gii.1_Splice_Site_p.Q199_splice|TP53_uc010cnh.1_Splice_Site_p.Q331_splice|TP53_uc010cni.1_Splice_Site_p.Q331_splice|TP53_uc002gij.2_Splice_Site_p.Q331_splice	p.Q331_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1187	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.993_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317135	0.40996	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2161	0.43168	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517576	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.743000	0.62110	1.993000	0.58246	0.459000	0.35465	.		PASS	0.463	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	62	69	62	69	---	---	---	---
ZNF286A	57335	broad.mit.edu	37	17	15619753	15619753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr17:15619753G>T	ENST00000464847.2	+	5	1268	c.715G>T	c.(715-717)Gag>Tag	p.E239*	ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Nonsense_Mutation_p.E239*|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Nonsense_Mutation_p.E239*|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Nonsense_Mutation_p.E229*|ZNF286A_ENST00000583566.1_Nonsense_Mutation_p.E239*			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E239*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AACTTATAAAGAGAAAAAACC	0.368																																						uc010cot.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(715-717)GAG>TAG		zinc finger protein 286							27.0	27.0	27.0					17																	15619753		2200	4289	6489	SO:0001587	stop_gained	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619753G>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.715G>T	17.37:g.15619753G>T	ENSP00000464218:p.Glu239*					ZNF286A_uc002goz.3_Nonsense_Mutation_p.E127*|ZNF286A_uc010vwa.1_Nonsense_Mutation_p.E239*|ZNF286A_uc002gpa.2_Nonsense_Mutation_p.E239*	p.E239*	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	6	1111	+			239					B4DKF9|Q96JF3	Nonsense_Mutation	SNP	ENST00000464847.2	37	c.715G>T	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	40	8.256550	0.98729	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	.	.	.	4.38	4.38	0.52667	.	0.359151	0.20223	N	0.096648	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-10.6572	14.4832	0.67597	0.0:0.0:1.0:0.0	.	.	.	.	X	239;229;239	.	ENSP00000435872:E239X	E	+	1	0	ZNF286A	15560478	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	4.290000	0.59019	2.253000	0.74438	0.650000	0.86243	GAG		PASS	0.368	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		40	44	40	44	---	---	---	---
KRT40	125115	broad.mit.edu	37	17	39134531	39134531	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr17:39134531C>G	ENST00000398486.2	-	9	1374	c.1214G>C	c.(1213-1215)tGt>tCt	p.C405S	AC004231.2_ENST00000418393.1_RNA|KRT40_ENST00000377755.4_Missense_Mutation_p.C405S	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	405	Tail.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.C405S(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TGTGGTCGAACATGGGCTACA	0.443																																						uc010cxh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)TGT>TCT		type I hair keratin KA36							100.0	109.0	106.0					17																	39134531		1930	4140	6070	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39134531C>G	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1214G>C	17.37:g.39134531C>G	ENSP00000381500:p.Cys405Ser					KRT40_uc002hvq.1_RNA	p.C405S	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			9	1375	-		Breast(137;0.00043)	405			Tail.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.1214G>C	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539283	0.27475	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	T;T	0.81330	-1.48;-1.48	5.2	4.2	0.49525	.	.	.	.	.	T	0.63628	0.2527	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.54397	-0.8300	9	0.38643	T	0.18	.	11.8367	0.52327	0.0:0.8231:0.1769:0.0	.	405	Q6A162	K1C40_HUMAN	S	405	ENSP00000366984:C405S;ENSP00000381500:C405S	ENSP00000366984:C405S	C	-	2	0	KRT40	36388057	0.035000	0.19736	0.007000	0.13788	0.090000	0.18270	1.489000	0.35562	1.260000	0.44134	0.650000	0.86243	TGT		PASS	0.443	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		3	136	3	136	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40859999	40859999	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr17:40859999T>A	ENST00000428826.2	-	15	1758	c.1637A>T	c.(1636-1638)aAg>aTg	p.K546M	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000435174.1_Missense_Mutation_p.K407M|EZH1_ENST00000592743.1_Missense_Mutation_p.K546M|EZH1_ENST00000415827.2_Missense_Mutation_p.K537M|EZH1_ENST00000585893.1_Missense_Mutation_p.K506M|EZH1_ENST00000590078.1_Missense_Mutation_p.K476M			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	546	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.K546M(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGGCAGAACTTCTCACAGAA	0.522																																						uc002iaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1636-1638)AAG>ATG		enhancer of zeste homolog 1							173.0	165.0	168.0					17																	40859999		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40859999T>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1637A>T	17.37:g.40859999T>A	ENSP00000404658:p.Lys546Met					EZH1_uc002iba.2_Missense_Mutation_p.K537M|EZH1_uc010wgt.1_Missense_Mutation_p.K476M|EZH1_uc010wgu.1_Missense_Mutation_p.K552M|EZH1_uc010wgv.1_Missense_Mutation_p.K506M|EZH1_uc010wgw.1_Missense_Mutation_p.K407M|EZH1_uc010cyp.2_Missense_Mutation_p.K447M|EZH1_uc010cyq.2_Missense_Mutation_p.K463M|EZH1_uc010cyo.1_Missense_Mutation_p.K209M|EZH1_uc010cyr.1_Missense_Mutation_p.K198M	p.K546M	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	15	1782	-		Breast(137;0.00104)	546			Cys-rich.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1637A>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.041000	0.93685	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.80994	-1.44;-1.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.90796	0.7110	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999	D	0.92261	0.5817	10	0.72032	D	0.01	.	15.7462	0.77944	0.0:0.0:0.0:1.0	.	407;506;552;476;546	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	M	549;546;506;407	ENSP00000404658:K546M;ENSP00000404071:K407M	ENSP00000264646:K549M	K	-	2	0	EZH1	38113525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.865000	0.87049	2.307000	0.77673	0.529000	0.55759	AAG		PASS	0.522	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		9	236	9	236	---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004946	41004946	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr17:41004946A>T	ENST00000308423.2	+	1	1746	c.1586A>T	c.(1585-1587)gAt>gTt	p.D529V	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	529					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.D529V(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TTCAAGGTGGATCTGGATGTA	0.512																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1585-1587)GAT>GTT		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						47.0	44.0	45.0					17																	41004946		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004946A>T	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1586A>T	17.37:g.41004946A>T	ENSP00000312326:p.Asp529Val						p.D529V	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1746	+		Breast(137;0.000143)	529			Extracellular (Potential).	Calcium 1.	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1586A>T	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057191	0.55325	.	.	ENSG00000131471	ENST00000308423	T	0.12672	2.66	5.26	5.26	0.73747	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61297	-0.7091	10	0.87932	D	0	.	15.4773	0.75493	1.0:0.0:0.0:0.0	.	529	Q16853	AOC3_HUMAN	V	529	ENSP00000312326:D529V	ENSP00000312326:D529V	D	+	2	0	AOC3	38258472	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.417000	0.80156	2.131000	0.65755	0.533000	0.62120	GAT		PASS	0.512	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		3	88	3	88	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48695601	48695601	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr17:48695601C>A	ENST00000359106.5	+	32	5324	c.5324C>A	c.(5323-5325)cCc>cAc	p.P1775H	CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1741H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1775H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1718H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1741H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1750H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1764H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1741H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1730H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1775H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1764H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1752H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1757H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1764H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1741H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1782H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1775H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1730H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1734H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1768H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1764H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1723H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1757H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P1741H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1752H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1775					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.P1775H(2)|p.P1741H(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGACACACCCCTGTGAGGGC	0.612																																						uc002irk.1																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(5323-5325)CCC>CAC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						64.0	67.0	66.0					17																	48695601		1937	4144	6081	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48695601C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5324C>A	17.37:g.48695601C>A	ENSP00000352011:p.Pro1775His					CACNA1G_uc002irj.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irl.1_Missense_Mutation_p.P1752H|CACNA1G_uc002irm.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irn.1_Missense_Mutation_p.P1734H|CACNA1G_uc002iro.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irp.1_Missense_Mutation_p.P1775H|CACNA1G_uc002irq.1_Missense_Mutation_p.P1752H|CACNA1G_uc002irr.1_Missense_Mutation_p.P1775H|CACNA1G_uc002irs.1_Missense_Mutation_p.P1764H|CACNA1G_uc002irt.1_Missense_Mutation_p.P1757H|CACNA1G_uc002irv.1_Missense_Mutation_p.P1764H|CACNA1G_uc002irw.1_Missense_Mutation_p.P1752H|CACNA1G_uc002iru.1_Missense_Mutation_p.P1741H|CACNA1G_uc002irx.1_Missense_Mutation_p.P1688H|CACNA1G_uc002iry.1_Missense_Mutation_p.P1677H|CACNA1G_uc002irz.1_Missense_Mutation_p.P1681H|CACNA1G_uc002isa.1_Missense_Mutation_p.P1654H|CACNA1G_uc002isb.1_Missense_Mutation_p.P1695H|CACNA1G_uc002isc.1_Missense_Mutation_p.P1677H|CACNA1G_uc002isd.1_Missense_Mutation_p.P1663H|CACNA1G_uc002ise.1_Missense_Mutation_p.P1643H|CACNA1G_uc002isf.1_Missense_Mutation_p.P1670H|CACNA1G_uc002isg.1_Missense_Mutation_p.P1636H|CACNA1G_uc002ish.1_Missense_Mutation_p.P1643H|CACNA1G_uc002isi.1_Missense_Mutation_p.P1631H	p.P1775H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		32	5696	+	Breast(11;6.7e-17)		1775			IV.|Extracellular (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5324C>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	19.80	3.894155	0.72639	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.18	4.21	0.49690	Ion transport (1);	0.053449	0.85682	D	0.000000	D	0.98779	0.9589	M	0.84219	2.685	0.80722	D	1	B;P;D;D;P;D;D;P;D;D;P;P;P;D;D;P;D;D;P;P;D;P;P;D;D	0.89917	0.45;0.949;1.0;1.0;0.763;1.0;1.0;0.632;1.0;0.975;0.759;0.859;0.949;0.965;1.0;0.884;1.0;1.0;0.763;0.886;1.0;0.758;0.759;0.97;0.999	P;P;D;D;P;D;D;P;D;P;P;B;P;P;D;P;D;D;P;P;D;P;P;P;D	0.97110	0.635;0.833;1.0;1.0;0.582;1.0;0.999;0.582;0.999;0.833;0.513;0.432;0.874;0.774;1.0;0.748;1.0;0.998;0.582;0.656;0.999;0.696;0.513;0.873;0.966	D	0.98877	1.0768	10	0.66056	D	0.02	.	13.1078	0.59257	0.0:0.9227:0.0:0.0772	.	1718;1730;1723;1757;1730;1750;1782;1741;1768;1764;1775;1752;1764;1764;1757;1764;1775;1752;1775;1741;1734;1741;1752;1775;1741	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1752;1741;1741;1734;1752;1764;1730;1718;1723;1741;1775;1764;1730;1768;1741;1775;1750;1764;1782;1741;1775;1757;1757;1775;1764	ENSP00000353990:P1752H;ENSP00000339302:P1741H;ENSP00000347078:P1741H;ENSP00000409759:P1734H;ENSP00000425522:P1752H;ENSP00000426261:P1764H;ENSP00000425451:P1730H;ENSP00000422407:P1718H;ENSP00000426814:P1723H;ENSP00000427238:P1741H;ENSP00000423112:P1775H;ENSP00000420918:P1764H;ENSP00000426172:P1730H;ENSP00000423045:P1768H;ENSP00000427173:P1741H;ENSP00000426098:P1775H;ENSP00000425698:P1750H;ENSP00000426232:P1764H;ENSP00000423317:P1782H;ENSP00000350979:P1741H;ENSP00000352011:P1775H;ENSP00000414388:P1757H;ENSP00000423155:P1757H;ENSP00000422268:P1775H;ENSP00000421518:P1764H	ENSP00000339302:P1741H	P	+	2	0	CACNA1G	46050600	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	4.070000	0.57548	2.409000	0.81822	0.637000	0.83480	CCC		PASS	0.612	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		53	62	53	62	---	---	---	---
ABCC3	8714	broad.mit.edu	37	17	48764928	48764928	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr17:48764928C>G	ENST00000285238.8	+	30	4392	c.4312C>G	c.(4312-4314)Cga>Gga	p.R1438G		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1438	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R1438G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GTGCCTGGCCCGAGCCCTGCT	0.647																																						uc002isl.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(1)	4						c.(4312-4314)CGA>GGA		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						60.0	52.0	55.0					17																	48764928		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48764928C>G	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4312C>G	17.37:g.48764928C>G	ENSP00000285238:p.Arg1438Gly					ABCC3_uc002isn.2_Missense_Mutation_p.R192G	p.R1438G	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		30	4392	+			1438			Cytoplasmic (By similarity).|ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.4312C>G	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670987	0.67814	.	.	ENSG00000108846	ENST00000285238	D	0.95482	-3.72	4.57	1.13	0.20643	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.073969	0.52532	D	0.000073	D	0.97971	0.9332	H	0.96430	3.82	0.80722	D	1	D	0.63046	0.992	D	0.63192	0.912	D	0.98505	1.0616	10	0.87932	D	0	-1.1832	12.9387	0.58329	0.6928:0.3071:0.0:0.0	.	1438	O15438	MRP3_HUMAN	G	1438	ENSP00000285238:R1438G	ENSP00000285238:R1438G	R	+	1	2	ABCC3	46119927	0.986000	0.35501	0.998000	0.56505	0.996000	0.88848	1.177000	0.31969	0.599000	0.29845	0.655000	0.94253	CGA		PASS	0.647	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		21	25	21	25	---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61569664	61569664	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr18:61569664G>A	ENST00000299502.4	+	7	785	c.705G>A	c.(703-705)atG>atA	p.M235I	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.M235I	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	235					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M235I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TACAGATGATGTACTTGCGTG	0.363																																						uc010xeu.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(703-705)ATG>ATA		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						107.0	98.0	101.0					18																	61569664		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569664G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.705G>A	18.37:g.61569664G>A	ENSP00000299502:p.Met235Ile					SERPINB2_uc002ljo.2_Missense_Mutation_p.M235I|SERPINB2_uc010dqh.2_Missense_Mutation_p.M165I|SERPINB2_uc002ljp.1_Missense_Mutation_p.M40I|SERPINB2_uc002ljq.1_Missense_Mutation_p.M40I	p.M235I	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			8	1038	+		Esophageal squamous(42;0.131)	235					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.705G>A	CCDS11989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.600537|3.600537	0.66332|0.66332	.|.	.|.	ENSG00000197632|ENSG00000242550	ENST00000299502;ENST00000457692|ENST00000397996;ENST00000418725	D;D|.	0.92495|.	-3.05;-3.05|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Serpin domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91439|0.91439	0.7298|0.7298	H|H	0.99273|0.99273	4.495|4.495	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.83275|.	0.996;0.996|.	D|D	0.94802|0.94802	0.7971|0.7971	9|5	.|.	.|.	.|.	.|.	18.522|18.522	0.90956|0.90956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	235;235|.	B2R7Y0;P05120|.	.;PAI2_HUMAN|.	I|I	235|112	ENSP00000299502:M235I;ENSP00000401645:M235I|.	.|.	M|V	+|+	3|1	0|0	SERPINB2|SERPINB10	59720644|59720644	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.009000|0.009000	0.06853|0.06853	9.301000|9.301000	0.96167|0.96167	2.684000|2.684000	0.91462|0.91462	0.650000|0.650000	0.86243|0.86243	ATG|GTA		PASS	0.363	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		27	81	27	81	---	---	---	---
TRAPPC5	126003	broad.mit.edu	37	19	7747477	7747477	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr19:7747477G>T	ENST00000317378.5	+	2	525	c.338G>T	c.(337-339)cGc>cTc	p.R113L	CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.R46L|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.R113L|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.R113L	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	113					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)		p.R113L(1)		NS(1)|lung(2)	3						GATGACGCGCGCACCTTCTAC	0.627																																						uc002mhi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CGC>CTC		trafficking protein particle complex 5							36.0	39.0	38.0					19																	7747477		2189	4280	6469	SO:0001583	missense	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747477G>T	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.338G>T	19.37:g.7747477G>T	ENSP00000316990:p.Arg113Leu					TRAPPC5_uc002mhj.1_Missense_Mutation_p.R113L|TRAPPC5_uc002mhk.1_Missense_Mutation_p.R113L	p.R113L	NM_001042462	NP_001035927	Q8IUR0	TPPC5_HUMAN			2	408	+			113					A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	37	c.338G>T	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952197	0.53293	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.42131	0.98;0.98	4.1	2.97	0.34412	NO signalling/Golgi transport  ligand-binding domain (1);	0.265289	0.28077	U	0.016682	T	0.32285	0.0824	L	0.50919	1.6	0.41610	D	0.988905	B	0.31837	0.342	B	0.34536	0.185	T	0.21484	-1.0244	10	0.40728	T	0.16	-0.0594	3.7045	0.08395	0.3578:0.0:0.6422:0.0	.	113	Q8IUR0	TPPC5_HUMAN	L	113	ENSP00000316990:R113L;ENSP00000399025:R113L	ENSP00000316990:R113L	R	+	2	0	TRAPPC5	7653477	1.000000	0.71417	0.997000	0.53966	0.628000	0.37860	4.743000	0.62110	1.846000	0.53633	0.485000	0.47835	CGC		PASS	0.627	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		9	23	9	23	---	---	---	---
ABHD8	79575	broad.mit.edu	37	19	17411739	17411739	+	Silent	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr19:17411739C>G	ENST00000247706.3	-	2	926	c.687G>C	c.(685-687)gcG>gcC	p.A229A	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	229							hydrolase activity (GO:0016787)	p.A229A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCTCAGCCAGCGCATAGAAGG	0.602																																					Ovarian(156;1368 2543 15275 41187)	uc002ngb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)GCG>GCC		abhydrolase domain containing 8							70.0	76.0	74.0					19																	17411739		2203	4299	6502	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17411739C>G	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.687G>C	19.37:g.17411739C>G							p.A229A	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			2	927	-			229					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.687G>C	CCDS12355.1																																																																																				PASS	0.602	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		37	107	37	107	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19654937	19654937	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr19:19654937G>A	ENST00000291495.5	+	8	1668	c.1583G>A	c.(1582-1584)aGc>aAc	p.S528N	CILP2_ENST00000586018.1_Missense_Mutation_p.S534N	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	528						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.S528N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCCCAGCGGTGAGTTC	0.627																																						uc002nmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1582-1584)AGC>AAC		cartilage intermediate layer protein 2							28.0	32.0	30.0					19																	19654937		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654937G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1583G>A	19.37:g.19654937G>A	ENSP00000291495:p.Ser528Asn					CILP2_uc002nmw.3_Missense_Mutation_p.S534N	p.S528N	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1668	+			528					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1583G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	g	4.463	0.085774	0.08583	.	.	ENSG00000160161	ENST00000291495	T	0.46819	0.86	3.76	2.61	0.31194	Carbohydrate-binding-like fold (1);	0.498399	0.22217	N	0.063001	T	0.32346	0.0826	L	0.38175	1.15	0.09310	N	1	B;B	0.33512	0.415;0.415	B;B	0.32211	0.111;0.142	T	0.11446	-1.0587	10	0.27785	T	0.31	-4.6781	7.972	0.30132	0.0:0.0:0.5983:0.4017	.	528;528	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	N	528	ENSP00000291495:S528N	ENSP00000291495:S528N	S	+	2	0	CILP2	19515937	0.001000	0.12720	0.808000	0.32385	0.333000	0.28666	1.286000	0.33273	1.658000	0.50742	0.424000	0.28305	AGC		PASS	0.627	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		19	47	19	47	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23545124	23545124	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr19:23545124A>T	ENST00000300619.7	-	4	862	c.657T>A	c.(655-657)ttT>ttA	p.F219L	ZNF91_ENST00000397082.2_Missense_Mutation_p.F187L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	219					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.F219L(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGGACCAATGAAAGGTTTTTT	0.353																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)TTT>TTA		zinc finger protein 91							74.0	78.0	77.0					19																	23545124		2139	4264	6403	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545124A>T	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.657T>A	19.37:g.23545124A>T	ENSP00000300619:p.Phe219Leu					ZNF91_uc010xrj.1_Missense_Mutation_p.F187L	p.F219L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	770	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	219			C2H2-type 3.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.657T>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357355	0.41801	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.46063	0.88;0.88	1.64	-1.2	0.09554	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40015	0.1100	M	0.86953	2.85	0.09310	N	1	D;P	0.53745	0.962;0.936	B;B	0.36567	0.228;0.114	T	0.38222	-0.9671	9	0.72032	D	0.01	.	6.1265	0.20182	0.5053:0.0:0.4947:0.0	.	187;219	Q05481-2;Q05481	.;ZNF91_HUMAN	L	219;187	ENSP00000300619:F219L;ENSP00000380272:F187L	ENSP00000300619:F219L	F	-	3	2	ZNF91	23336964	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.625000	0.05534	-0.526000	0.06383	0.147000	0.16070	TTT		PASS	0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	131	4	131	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310553	50310553	+	Missense_Mutation	SNP	G	G	T	rs374360007		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr19:50310553G>T	ENST00000313777.4	-	11	1275	c.1112C>A	c.(1111-1113)aCt>aAt	p.T371N	FUZ_ENST00000533418.1_Missense_Mutation_p.T321N|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_Missense_Mutation_p.T335N	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	371	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)		p.T371N(1)		endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TGGTTCCTCAGTCCCCAACAC	0.637																																						uc002ppq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)ACT>AAT		fuzzy homolog							59.0	54.0	56.0					19																	50310553		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310553G>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1112C>A	19.37:g.50310553G>T	ENSP00000313309:p.Thr371Asn					FUZ_uc002ppr.1_Missense_Mutation_p.T271N|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.T335N|FUZ_uc002ppv.1_Missense_Mutation_p.T321N	p.T371N	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1217	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	371			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.1112C>A	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	G	4.131	0.022497	0.08006	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000313777;ENST00000377092	T;T;T	0.19938	2.11;2.11;2.11	3.52	3.52	0.40303	.	1.438640	0.04974	N	0.464447	T	0.17280	0.0415	N	0.22421	0.69	0.35593	D	0.807207	B;B	0.30281	0.275;0.144	B;B	0.29353	0.07;0.101	T	0.09228	-1.0684	10	0.37606	T	0.19	0.7584	10.4134	0.44307	0.0:0.0:1.0:0.0	.	335;371	Q9BT04-3;Q9BT04	.;FUZZY_HUMAN	N	335;321;371;271	ENSP00000435177:T335N;ENSP00000431731:T321N;ENSP00000313309:T371N	ENSP00000313309:T371N	T	-	2	0	FUZ	55002365	0.006000	0.16342	0.013000	0.15412	0.167000	0.22549	1.719000	0.38011	1.828000	0.53243	0.462000	0.41574	ACT		PASS	0.637	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		15	51	15	51	---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762406	53762406	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr19:53762406T>A	ENST00000341702.3	+	1	862	c.778T>A	c.(778-780)Tca>Aca	p.S260T		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	260					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.S260T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGTCACAAAGTCAGTATATGC	0.433																																						uc002qbi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)TCA>ACA		vomeronasal 1 receptor 2							144.0	133.0	137.0					19																	53762406		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762406T>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.778T>A	19.37:g.53762406T>A	ENSP00000351244:p.Ser260Thr						p.S260T	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	862	+			260			Extracellular (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.778T>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	5.680	0.309968	0.10733	.	.	ENSG00000196131	ENST00000341702	T	0.14391	2.51	2.94	-0.479	0.12089	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09862	0.0242	L	0.48174	1.505	0.09310	N	1	B	0.28470	0.213	B	0.28139	0.086	T	0.37820	-0.9689	9	0.22706	T	0.39	.	3.0529	0.06175	0.1839:0.2324:0.0:0.5837	.	260	Q8NFZ6	VN1R2_HUMAN	T	260	ENSP00000351244:S260T	ENSP00000351244:S260T	S	+	1	0	VN1R2	58454218	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.247000	0.18179	-0.165000	0.10908	-0.349000	0.07799	TCA		PASS	0.433	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		28	222	28	222	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56953173	56953173	+	Silent	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr19:56953173C>T	ENST00000504904.3	-	7	1910	c.1191G>A	c.(1189-1191)cgG>cgA	p.R397R	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.R397R|ZNF667_ENST00000342634.3_Silent_p.R525R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	397					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.R397R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGGATGAATGCCGATTGCAGA	0.363																																						uc002qnd.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1189-1191)CGG>CGA		zinc finger protein 667							65.0	66.0	66.0					19																	56953173		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953173C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1191G>A	19.37:g.56953173C>T						ZNF667_uc010etl.2_Silent_p.R179R|ZNF667_uc002qne.2_Silent_p.R397R|ZNF667_uc010etm.2_Silent_p.R340R	p.R397R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1353	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	397			C2H2-type 8.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1191G>A	CCDS12944.1																																																																																				PASS	0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		4	115	4	115	---	---	---	---
SNAP25	6616	broad.mit.edu	37	20	10280021	10280021	+	Silent	SNP	C	C	T	rs372122045		TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr20:10280021C>T	ENST00000254976.2	+	7	724	c.513C>T	c.(511-513)atC>atT	p.I171I	SNAP25_ENST00000304886.2_Silent_p.I171I|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	171	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.I171I(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCAATGAGATCGATACACAGA	0.507																																						uc002wnq.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(511-513)ATC>ATT		synaptosomal-associated protein 25 isoform	Botulinum Toxin Type A(DB00083)	C	,	0,4406		0,0,2203	107.0	96.0	99.0		513,513	-5.6	0.9	20		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SNAP25	NM_003081.3,NM_130811.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	171/207,171/207	10280021	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10280021C>T		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.513C>T	20.37:g.10280021C>T						SNAP25_uc002wnr.1_Silent_p.I171I|SNAP25_uc002wns.1_Silent_p.I108I|SNAP25_uc010gca.1_Silent_p.I171I|SNAP25_uc010gcb.1_Silent_p.I108I|SNAP25_uc010gcc.1_Silent_p.I65I	p.I171I	NM_130811	NP_570824	P60880	SNP25_HUMAN			7	725	+			171			t-SNARE coiled-coil homology 2.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP	ENST00000254976.2	37	c.513C>T	CCDS13110.1																																																																																				PASS	0.507	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		29	92	29	92	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33582189	33582189	+	Silent	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr20:33582189C>T	ENST00000262873.7	+	25	2903	c.2811C>T	c.(2809-2811)gcC>gcT	p.A937A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	895				E -> G (in Ref. 6; AAH07808). {ECO:0000305}.		membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A937A(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ATGACCTGGCCCTGCAGCTGC	0.667																																						uc002xbi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2809-2811)GCC>GCT		myosin, heavy polypeptide 7B, cardiac muscle,							18.0	24.0	22.0					20																	33582189		2101	4211	6312	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33582189C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2811C>T	20.37:g.33582189C>T							p.A937A	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		25	2903	+			895			Potential.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.2811C>T	CCDS42869.1																																																																																				PASS	0.667	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		12	27	12	27	---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42788493	42788493	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr20:42788493G>T	ENST00000372980.3	-	2	1806	c.934C>A	c.(934-936)Ctc>Atc	p.L312I		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	312					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.L312I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCGTAGCGGAGGCCACTGGAG	0.662																																						uc002xli.1																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)CTC>ATC		junctophilin 2 isoform 1							57.0	49.0	52.0					20																	42788493		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788493G>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.934C>A	20.37:g.42788493G>T	ENSP00000362071:p.Leu312Ile						p.L312I	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1807	-		Myeloproliferative disorder(115;0.0122)	312			MORN 7.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.934C>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.094939	0.76870	.	.	ENSG00000149596	ENST00000372980	T	0.55234	0.53	3.1	3.1	0.35709	.	0.000000	0.64402	D	0.000001	T	0.56093	0.1962	L	0.27053	0.805	0.80722	D	1	D	0.63046	0.992	D	0.63113	0.911	T	0.59705	-0.7404	10	0.48119	T	0.1	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	312	Q9BR39	JPH2_HUMAN	I	312	ENSP00000362071:L312I	ENSP00000362071:L312I	L	-	1	0	JPH2	42221907	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.215000	0.77966	1.545000	0.49373	0.298000	0.19748	CTC		PASS	0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			9	21	9	21	---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46295097	46295097	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr20:46295097G>T	ENST00000359930.4	-	12	2563	c.1712C>A	c.(1711-1713)cCt>cAt	p.P571H	SULF2_ENST00000484875.1_Missense_Mutation_p.P571H|SULF2_ENST00000467815.1_Missense_Mutation_p.P571H|SULF2_ENST00000361612.4_Missense_Mutation_p.P571H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	571					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.P571H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTGGTCCTCAGGGGCCCCTGG	0.632																																						uc002xto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1711-1713)CCT>CAT		sulfatase 2 isoform a precursor							83.0	85.0	85.0					20																	46295097		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295097G>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1712C>A	20.37:g.46295097G>T	ENSP00000353007:p.Pro571His					SULF2_uc002xtr.2_Missense_Mutation_p.P571H|SULF2_uc002xtq.2_Missense_Mutation_p.P571H|SULF2_uc010zyd.1_5'Flank	p.P571H	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			12	2042	-			571					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1712C>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	-	10.09	1.254661	0.22965	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99005	-5.32;-5.32;-5.32;-5.32	4.71	2.71	0.32032	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.726221	0.13493	N	0.383865	D	0.97031	0.9030	L	0.48642	1.525	0.09310	N	1	B;P	0.38677	0.001;0.642	B;B	0.42163	0.001;0.378	D	0.93892	0.7180	10	0.46703	T	0.11	-2.0652	2.7922	0.05391	0.2609:0.0:0.3768:0.3623	.	571;571	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	H	571	ENSP00000353007:P571H;ENSP00000418290:P571H;ENSP00000354662:P571H;ENSP00000418442:P571H	ENSP00000353007:P571H	P	-	2	0	SULF2	45728504	0.041000	0.20044	0.648000	0.29521	0.583000	0.36354	0.348000	0.20031	0.555000	0.29079	0.563000	0.77884	CCT		PASS	0.632	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		32	110	32	110	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47835947	47835947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr20:47835947C>T	ENST00000371764.4	+	1	64	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	19						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.Q19*(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCCGGACCGCAGGCTGTGCT	0.622																																						uc002xuh.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(2)	2						c.(55-57)CAG>TAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							76.0	64.0	68.0					20																	47835947		2203	4300	6503	SO:0001587	stop_gained	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47835947C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.55C>T	20.37:g.47835947C>T	ENSP00000360828:p.Gln19*						p.Q19*	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	116	+			19					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Nonsense_Mutation	SNP	ENST00000371764.4	37	c.55C>T	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890007	0.72524	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	.	.	.	5.67	3.71	0.42584	.	2.307660	0.01708	N	0.027525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	3.6533	9.4834	0.38915	0.0:0.8332:0.0:0.1668	.	.	.	.	X	19	.	ENSP00000360828:Q19X	Q	+	1	0	DDX27	47269354	0.000000	0.05858	0.026000	0.17262	0.012000	0.07955	-0.035000	0.12205	0.852000	0.35287	0.655000	0.94253	CAG		PASS	0.622	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			8	25	8	25	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512601	61512601	+	Silent	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr20:61512601C>T	ENST00000266070.4	-	16	5032	c.4707G>A	c.(4705-4707)gaG>gaA	p.E1569E	DIDO1_ENST00000395343.1_Silent_p.E1569E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1569					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.E1569E(1)		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)					CCTCACCGGTCTCAGTGGCCA	0.711																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)	6						c.(4705-4707)GAG>GAA		death inducer-obliterator 1 isoform c							14.0	19.0	18.0					20																	61512601		2064	4049	6113	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512601C>T	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.4707G>A	20.37:g.61512601C>T						DIDO1_uc002yds.1_Silent_p.E1569E	p.E1569E	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4971	-	Breast(26;5.68e-08)		1569					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4707G>A	CCDS33506.1																																																																																				PASS	0.711	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	18	4	18	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737655	62737655	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr20:62737655A>G	ENST00000369768.1	-	1	869	c.530T>C	c.(529-531)cTg>cCg	p.L177P		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	177					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.L177P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGGCAGAACCAGGACCGTGAC	0.662																																						uc011abt.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(529-531)CTG>CCG		neuropeptides B/W receptor 2							32.0	33.0	33.0					20																	62737655		2200	4294	6494	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737655A>G	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.530T>C	20.37:g.62737655A>G	ENSP00000358783:p.Leu177Pro						p.L177P	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	530	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		177			Helical; Name=4; (Potential).		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.530T>C	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.462218	0.26248	.	.	ENSG00000125522	ENST00000369768	T	0.74947	-0.89	3.82	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.136302	0.45361	U	0.000368	T	0.73830	0.3637	M	0.66297	2.02	0.23050	N	0.998373	P	0.51147	0.942	P	0.49252	0.604	T	0.66536	-0.5899	10	0.87932	D	0	.	7.6401	0.28288	0.8115:0.0:0.1885:0.0	.	177	P48146	NPBW2_HUMAN	P	177	ENSP00000358783:L177P	ENSP00000358783:L177P	L	-	2	0	NPBWR2	62208099	0.998000	0.40836	0.003000	0.11579	0.024000	0.10985	4.658000	0.61497	-0.031000	0.13781	0.402000	0.26972	CTG		PASS	0.662	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		8	39	8	39	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18725907	18725907	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chrX:18725907G>A	ENST00000361511.4	+	4	502	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	PPEF1_ENST00000349874.5_Missense_Mutation_p.C3Y|PPEF1_ENST00000543630.1_Missense_Mutation_p.C3Y|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_5'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.C3Y	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	3					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.C3Y(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GTCATGGGATGCAGCAGTTCT	0.438																																						uc004cyq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)TGC>TAC		protein phosphatase with EF hand calcium-binding							142.0	117.0	125.0					X																	18725907		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18725907G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.8G>A	X.37:g.18725907G>A	ENSP00000354871:p.Cys3Tyr					PPEF1_uc004cyp.2_Missense_Mutation_p.C3Y|PPEF1_uc004cyr.2_Missense_Mutation_p.C3Y|PPEF1_uc004cys.2_Missense_Mutation_p.C3Y|PPEF1_uc011mja.1_5'UTR	p.C3Y	NM_006240	NP_006231	O14829	PPE1_HUMAN			4	489	+	Hepatocellular(33;0.183)		3					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.8G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689772	0.29962	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.26067	3.13;2.79;3.0;1.76	5.52	5.52	0.82312	.	.	.	.	.	T	0.45276	0.1334	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.39272	-0.9622	9	0.87932	D	0	-18.7498	13.685	0.62511	0.0:0.0:1.0:0.0	.	3;3;3	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	Y	3	ENSP00000354871:C3Y;ENSP00000352806:C3Y;ENSP00000341892:C3Y;ENSP00000437785:C3Y	ENSP00000341892:C3Y	C	+	2	0	PPEF1	18635828	1.000000	0.71417	0.720000	0.30636	0.032000	0.12392	4.489000	0.60309	2.298000	0.77334	0.600000	0.82982	TGC		PASS	0.438	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		17	34	17	34	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149040	34149040	+	Silent	SNP	A	A	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chrX:34149040A>G	ENST00000346193.3	-	1	1407	c.1356T>C	c.(1354-1356)acT>acC	p.T452T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	452								p.T452T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGTTCCTTAGTTTTCTTCA	0.557																																						uc004ddg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1354-1356)ACT>ACC		hypothetical protein LOC158724							44.0	47.0	46.0					X																	34149040		2059	4203	6262	SO:0001819	synonymous_variant	158724							g.chrX:34149040A>G	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1356T>C	X.37:g.34149040A>G							p.T452T	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1389	-			452					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1356T>C	CCDS43926.1																																																																																				PASS	0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		4	52	4	52	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50341478	50341478	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chrX:50341478C>G	ENST00000289292.7	-	8	4283	c.4000G>C	c.(4000-4002)Ggg>Cgg	p.G1334R	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1218R|SHROOM4_ENST00000376020.2_Missense_Mutation_p.G1334R|SHROOM4_ENST00000483955.1_5'Flank			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1334	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.G1334R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTAGCAGCCCTCGCTGGGCC	0.478																																						uc004dpe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(4000-4002)GGG>CGG		shroom family member 4							36.0	29.0	31.0					X																	50341478		2203	4299	6502	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50341478C>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4000G>C	X.37:g.50341478C>G	ENSP00000289292:p.Gly1334Arg					SHROOM4_uc004dpd.3_RNA	p.G1334R	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			8	4026	-	Ovarian(276;0.236)		1334			ASD2.		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.4000G>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992033	0.54041	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28454	1.61;1.61;1.61	5.55	5.55	0.83447	Apx/shroom, ASD2 (2);	0.154339	0.40064	N	0.001196	T	0.45915	0.1366	L	0.34521	1.04	0.48830	D	0.999713	D	0.76494	0.999	D	0.81914	0.995	T	0.34254	-0.9836	10	0.45353	T	0.12	.	17.2248	0.86966	0.0:1.0:0.0:0.0	.	1334	Q9ULL8	SHRM4_HUMAN	R	1334;1334;1218	ENSP00000289292:G1334R;ENSP00000365188:G1334R;ENSP00000421450:G1218R	ENSP00000289292:G1334R	G	-	1	0	SHROOM4	50358218	0.242000	0.23868	0.996000	0.52242	0.966000	0.64601	1.607000	0.36836	2.334000	0.79466	0.600000	0.82982	GGG		PASS	0.478	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		9	7	9	7	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70349706	70349706	+	Splice_Site	SNP	G	G	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chrX:70349706G>A	ENST00000374080.3	+	27	3899		c.e27+1		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000333646.6_Splice_Site			Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.?(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGCCAACAGGTCAGTTTCAC	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Unknown(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.e27+1		mediator complex subunit 12							41.0	50.0	47.0					X																	70349706		2165	4246	6411	SO:0001630	splice_region_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349706G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3867+1G>A	X.37:g.70349706G>A			OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_uc011mpq.1_Splice_Site_p.Q1289_splice|MED12_uc004dyz.2_Splice_Site_p.Q1289_splice|MED12_uc004dza.2_Splice_Site_p.Q1136_splice|MED12_uc010nla.2_Splice_Site	p.Q1289_splice	NM_005120	NP_005111	Q93074	MED12_HUMAN			27	4066	+	Renal(35;0.156)							O15410|O75557|Q9UHV6|Q9UND7	Splice_Site	SNP	ENST00000374080.3	37	c.3867_splice	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	17.05	3.290686	0.59976	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2575	0.87061	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12	70266431	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.713000	0.91408	2.343000	0.79666	0.468000	0.43344	.		PASS	0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Intron	3	25	3	25	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107449748	107449748	+	Splice_Site	SNP	T	T	A			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chrX:107449748T>A	ENST00000372216.4	-	9	712	c.612A>T	c.(610-612)caA>caT	p.Q204H	COL4A6_ENST00000545689.1_Splice_Site_p.Q203H|COL4A6_ENST00000394872.2_Splice_Site_p.Q200H|COL4A6_ENST00000334504.7_Splice_Site_p.Q203H|COL4A6_ENST00000538570.1_Splice_Site_p.Q203H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	204	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Q203H(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTGATCTTACTTGTAATCCTG	0.443									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(610-612)CAA>CAT		type IV alpha 6 collagen isoform A precursor							171.0	139.0	150.0					X																	107449748		2203	4300	6503	SO:0001630	splice_region_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107449748T>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.612+1A>T	X.37:g.107449748T>A						COL4A6_uc004env.3_Missense_Mutation_p.Q203H|COL4A6_uc011msn.1_Missense_Mutation_p.Q203H|COL4A6_uc010npk.2_Missense_Mutation_p.Q203H	p.Q204H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			9	715	-			204			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.612A>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	T	7.969	0.748676	0.15710	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93488	-3.23;-3.23;-2.78;-3.23;-3.23	4.93	1.19	0.21007	.	0.000000	0.35646	N	0.003068	D	0.87192	0.6116	L	0.49455	1.56	0.80722	D	1	B;B;B;B	0.22146	0.053;0.053;0.065;0.053	B;B;B;B	0.24394	0.032;0.032;0.053;0.032	T	0.74940	-0.3493	9	.	.	.	.	2.3912	0.04378	0.2116:0.2284:0.0:0.56	.	203;203;204;203	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	204;203;200;203;203;203	ENSP00000361290:Q204H;ENSP00000334733:Q203H;ENSP00000378340:Q200H;ENSP00000443707:Q203H;ENSP00000445236:Q203H	.	Q	-	3	2	COL4A6	107336404	0.995000	0.38212	0.990000	0.47175	0.360000	0.29518	0.013000	0.13310	0.239000	0.21243	0.446000	0.29264	CAA		PASS	0.443	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		Missense_Mutation	51	41	51	41	---	---	---	---
MIR510	574515	broad.mit.edu	37	X	146353861	146353861	+	RNA	SNP	C	C	T			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chrX:146353861C>T	ENST00000384909.1	-	0	65					NR_030237.1				microRNA 510																		ATGTGTTACTCCACTCTTAGA	0.413																																						hsa-mir-510|MI0003197																			0					0															127.0	95.0	105.0					X																	146353861		1568	3582	5150			574515							g.chrX:146353861C>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000207641	ENSG00000207641		"""ncRNAs / Micro RNAs"""	32147	non-coding RNA	RNA, micro		300866		MIRN510			Standard	NR_030237		Approved	hsa-mir-510	uc022cga.1				X.37:g.146353861C>T																-									RNA	SNP	ENST00000384909.1	37	c.66C>T																																																																																					PASS	0.413	MIR510-201	KNOWN	basic	miRNA	miRNA		NR_030237		21	24	21	24	---	---	---	---
OTUB1	55611	broad.mit.edu	37	11	63764701	63764701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2765-01A-01D-1522-08	TCGA-66-2765-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	85d7e094-ca96-4090-83aa-2f318ae6e954	3a4cd1fc-922c-4d55-95e8-c06257ede42c	g.chr11:63764701delG	ENST00000538426.1	+	6	647	c.603delG	c.(601-603)aagfs	p.K201fs	OTUB1_ENST00000543988.1_Frame_Shift_Del_p.K171fs|OTUB1_ENST00000543004.1_Frame_Shift_Del_p.K210fs|OTUB1_ENST00000428192.2_Frame_Shift_Del_p.K201fs|OTUB1_ENST00000422031.2_Frame_Shift_Del_p.K238fs|OTUB1_ENST00000535715.1_Frame_Shift_Del_p.K201fs|OTUB1_ENST00000541478.1_Frame_Shift_Del_p.K100fs	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	201	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GGACTGTCAAGGAGTTCTGCC	0.667																																						uc001nyf.1																			0				breast(1)	1						c.(601-603)AAGfs		otubain 1							73.0	67.0	69.0					11																	63764701		2201	4297	6498	SO:0001589	frameshift_variant	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764701delG	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.603delG	11.37:g.63764701delG	ENSP00000444357:p.Lys201fs					OTUB1_uc001nyg.1_Frame_Shift_Del_p.K244fs|OTUB1_uc010rmz.1_Frame_Shift_Del_p.K238fs|OTUB1_uc010rna.1_Frame_Shift_Del_p.K210fs|OTUB1_uc009ypa.2_Frame_Shift_Del_p.K100fs|OTUB1_uc009ypb.1_Frame_Shift_Del_p.K171fs	p.K201fs	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN			6	1207	+			201			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Frame_Shift_Del	DEL	ENST00000538426.1	37	c.603delG	CCDS8055.1																																																																																					0.667	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		109	57	109	57	---	---	---	---
