#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_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
GNB1	2782	broad.mit.edu	37	1	1720568	1720568	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:1720568C>A	ENST00000378609.4	-	10	1171	c.840G>T	c.(838-840)aaG>aaT	p.K280N		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	280					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCGCCCGCTCTTGGAGAAGG	0.587											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aif.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(838-840)aaG>aaT		Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.							101.0	94.0	97.0					1																	1720568		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1720568C>A	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.840G>T	1.37:g.1720568C>A	ENSP00000367872:p.Lys280Asn		OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	GNB1_uc009vky.3_Missense_Mutation_p.K180N	p.K280N	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	1203	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	280					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.840G>T	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.342034|4.342034	0.81911|0.81911	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.60040|.	0.22|.	5.63|5.63	5.63|5.63	0.86233|0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60064|0.60064	0.2240|0.2240	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	B|.	0.14012|.	0.009|.	B|.	0.31869|.	0.137|.	T|T	0.53781|0.53781	-0.8390|-0.8390	10|5	0.27082|.	T|.	0.32|.	-16.8209|-16.8209	18.6641|18.6641	0.91483|0.91483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280|.	P62873|.	GBB1_HUMAN|.	N|I	280;180;280|138	ENSP00000367872:K280N|.	ENSP00000367869:K280N|.	K|R	-|-	3|2	2|0	GNB1|GNB1	1710428|1710428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.620000|1.620000	0.36976|0.36976	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.587	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074	
CHD5	26038	broad.mit.edu	37	1	6206730	6206730	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:6206730G>C	ENST00000262450.3	-	10	1684	c.1585C>G	c.(1585-1587)Cta>Gta	p.L529V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCACCTGTAGCTCCTTCACC	0.647																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1585-1587)Cta>Gta		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							44.0	45.0	45.0					1																	6206730		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206730G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1585C>G	1.37:g.6206730G>C	ENSP00000262450:p.Leu529Val					CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	p.L529V	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	9	1696	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	529			Chromo 1.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1585C>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099978	0.37048	.	.	ENSG00000116254	ENST00000262450;ENST00000378006	T	0.71579	-0.58	4.67	2.78	0.32641	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.56097	D	0.000036	T	0.80281	0.4594	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.75909	-0.3151	10	0.32370	T	0.25	-9.1343	8.1247	0.30992	0.248:0.0:0.752:0.0	.	529	Q8TDI0	CHD5_HUMAN	V	529;45	ENSP00000262450:L529V	ENSP00000262450:L529V	L	-	1	2	CHD5	6129317	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	2.890000	0.48609	0.389000	0.25086	0.563000	0.77884	CTA		0.647	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CLCNKB	1188	broad.mit.edu	37	1	16377396	16377396	+	Silent	SNP	G	G	A	rs140705060		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:16377396G>A	ENST00000375679.4	+	12	1191	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	CLCNKB_ENST00000375667.3_Silent_p.S191S	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	360					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGGACTCGCTGTTCGACA	0.672																																						uc001axx.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1078-1080)tcG>tcA		Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	Niflumic Acid(DB04552)	G	,	0,4406		0,0,2203	40.0	43.0	42.0		1080,573	-9.5	0.0	1	dbSNP_134	42	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	CLCNKB	NM_000085.3,NM_001165945.1	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	360/688,191/519	16377396	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16377396G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1080G>A	1.37:g.16377396G>A						CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.S191S|CLCNKA_uc001axy.4_Silent_p.S191S	p.S360S	NM_000085	NP_000076	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1216	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	360					B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1080G>A	CCDS168.1																																																																																				0.672	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	
PTAFR	5724	broad.mit.edu	37	1	28477001	28477001	+	Missense_Mutation	SNP	C	C	T	rs184182216		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:28477001C>T	ENST00000373857.3	-	2	1166	c.532G>A	c.(532-534)Gag>Aag	p.E178K	PTAFR_ENST00000539896.1_Missense_Mutation_p.E178K|PTAFR_ENST00000305392.3_Missense_Mutation_p.E178K	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	178					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.E178K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTTCTCGTAATGCTCA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		24795	0.001		0.0	False		,,,				2504	0.0					uc009vte.3																			1	Substitution - Missense(1)	p.E178K(2)	lung(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15						c.(532-534)Gag>Aag		Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.							115.0	88.0	97.0					1																	28477001		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477001C>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.532G>A	1.37:g.28477001C>T	ENSP00000362965:p.Glu178Lys					PTAFR_uc021ojz.1_Missense_Mutation_p.E178K|PTAFR_uc001bpl.3_Missense_Mutation_p.E178K|PTAFR_uc001bpm.4_Missense_Mutation_p.E178K|PTAFR_uc021oka.1_Missense_Mutation_p.E178K	p.E178K	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	867	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	178					A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.532G>A	CCDS318.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.11	3.763936	0.69878	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.37752	1.18;1.18;1.18	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.427833	0.26991	N	0.021461	T	0.22898	0.0553	N	0.17474	0.49	0.41362	D	0.987438	P	0.51933	0.949	B	0.38755	0.281	T	0.04579	-1.0941	10	0.40728	T	0.16	.	14.5079	0.67764	0.0:0.8534:0.1466:0.0	.	178	P25105	PTAFR_HUMAN	K	178	ENSP00000362965:E178K;ENSP00000442658:E178K;ENSP00000301974:E178K	ENSP00000301974:E178K	E	-	1	0	PTAFR	28349588	0.964000	0.33143	0.985000	0.45067	0.960000	0.62799	1.802000	0.38853	2.467000	0.83353	0.563000	0.77884	GAG		0.542	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952	
SLC44A5	204962	broad.mit.edu	37	1	75708695	75708695	+	Splice_Site	SNP	A	A	G	rs148670291		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:75708695A>G	ENST00000370855.5	-	8	460	c.347T>C	c.(346-348)aTc>aCc	p.I116T	SLC44A5_ENST00000370859.3_Splice_Site_p.I116T|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	116					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGAGACACAGATCTGTGAACG	0.383																																						uc010oqz.1																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e7-1		Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.		A	THR/ILE,THR/ILE	1,4405		0,1,2202	75.0	78.0	77.0		347,347	5.1	1.0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	SLC44A5	NM_001130058.1,NM_152697.4	89,89	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	116/718,116/720	75708695	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75708695A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.346-1T>C	1.37:g.75708695A>G						SLC44A5_uc001dgt.2_Splice_Site_p.I116_splice|SLC44A5_uc001dgs.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgr.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgu.3_Splice_Site_p.I116_splice|SLC44A5_uc010ora.2_Splice_Site_p.I110_splice|SLC44A5_uc010orb.2_Splice_Site	p.I155_splice	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN			7	529	-			116					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.463_splice	CCDS667.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945398	0.73672	2.27E-4	0.0	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.17213	2.29;2.29	5.07	5.07	0.68467	.	0.119522	0.56097	D	0.000026	T	0.28532	0.0706	M	0.83774	2.66	0.80722	D	1	P;P;P;D;D	0.57571	0.743;0.628;0.892;0.98;0.98	P;B;B;P;P	0.57009	0.517;0.297;0.412;0.811;0.811	T	0.06935	-1.0799	10	0.42905	T	0.14	-10.3515	14.1354	0.65284	1.0:0.0:0.0:0.0	.	110;155;116;116;155	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	T	116;155;116;109	ENSP00000359896:I116T;ENSP00000359892:I116T	ENSP00000359892:I116T	I	-	2	0	SLC44A5	75481283	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.277000	0.78572	2.028000	0.59812	0.533000	0.62120	ATC		0.383	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Missense_Mutation
LRRC8C	84230	broad.mit.edu	37	1	90179098	90179098	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:90179098T>C	ENST00000370454.4	+	3	1224	c.969T>C	c.(967-969)taT>taC	p.Y323Y	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	323					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCTTTTGCTATCTGTGCTTTG	0.408																																						uc001dnl.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(967-969)taT>taC		Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.							140.0	114.0	122.0					1																	90179098		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179098T>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.969T>C	1.37:g.90179098T>C							p.Y323Y	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	2	1211	+		all_lung(203;0.126)	323					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.969T>C	CCDS725.1																																																																																				0.408	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270	
ABCA4	24	broad.mit.edu	37	1	94508933	94508933	+	Missense_Mutation	SNP	C	C	T	rs61750062		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:94508933C>T	ENST00000370225.3	-	21	3235	c.3149G>A	c.(3148-3150)gGc>gAc	p.G1050D		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1050	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGGTGGAGGCCTGTGTCCTC	0.582																																						uc001dqh.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM012879	ABCA4	M	rs61750062	c.(3148-3150)gGc>gAc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							104.0	89.0	94.0					1																	94508933		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94508933C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3149G>A	1.37:g.94508933C>T	ENSP00000359245:p.Gly1050Asp						p.G1050D	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	20	3253	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1050			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3149G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553517	0.86127	.	.	ENSG00000198691	ENST00000370225	D	0.94613	-3.47	5.83	5.83	0.93111	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.100986	0.64402	D	0.000002	D	0.91277	0.7250	L	0.37630	1.12	0.80722	D	1	P	0.38535	0.635	B	0.41691	0.364	D	0.91867	0.5504	10	0.62326	D	0.03	.	20.1252	0.97977	0.0:1.0:0.0:0.0	rs61750062	1050	P78363	ABCA4_HUMAN	D	1050	ENSP00000359245:G1050D	ENSP00000359245:G1050D	G	-	2	0	ABCA4	94281521	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	3.913000	0.56394	2.758000	0.94735	0.591000	0.81541	GGC		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
POU2F1	5451	broad.mit.edu	37	1	167353107	167353107	+	Silent	SNP	G	G	A	rs376220117		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:167353107G>A	ENST00000541643.3	+	9	825	c.663G>A	c.(661-663)gcG>gcA	p.A221A	POU2F1_ENST00000367862.5_Silent_p.A233A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Silent_p.A244A|POU2F1_ENST00000429375.2_Silent_p.A181A|RP11-52A20.2_ENST00000607611.1_RNA|POU2F1_ENST00000452019.1_Silent_p.A221A|POU2F1_ENST00000420254.3_Silent_p.A221A			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	221					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCTGCAAGCGCAAAATCTTC	0.438																																						uc001gec.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(661-663)gcG>gcA		Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.		G	,,	0,4406		0,0,2203	96.0	90.0	92.0		699,543,732	5.7	1.0	1		92	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	POU2F1	NM_001198783.1,NM_001198786.1,NM_002697.3	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	233/756,181/704,244/767	167353107	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167353107G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.663G>A	1.37:g.167353107G>A						POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.A244A|POU2F1_uc010plh.2_Silent_p.A181A|POU2F1_uc001ged.3_Silent_p.A219A|POU2F1_uc001gef.3_Silent_p.A233A|POU2F1_uc001geg.3_Silent_p.A119A	p.A221A	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN			8	902	+			221					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.663G>A																																																																																					0.438	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697	
IVNS1ABP	10625	broad.mit.edu	37	1	185267320	185267320	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:185267320C>T	ENST00000367498.3	-	15	2398	c.1776G>A	c.(1774-1776)atG>atA	p.M592I	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.M374I	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	592					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTGGTGAAGTCATATTTCCCA	0.423																																						uc001grl.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1774-1776)atG>atA		Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.							278.0	241.0	253.0					1																	185267320		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267320C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1776G>A	1.37:g.185267320C>T	ENSP00000356468:p.Met592Ile					IVNS1ABP_uc001gri.3_Missense_Mutation_p.M252I|IVNS1ABP_uc001grj.3_Missense_Mutation_p.M252I|IVNS1ABP_uc009wyj.3_Missense_Mutation_p.M374I|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	p.M592I	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			14	2399	-			592					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1776G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542289	0.85917	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	D;D	0.84070	-1.8;-1.8	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.92851	0.7726	M	0.88450	2.955	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.83275	0.471;0.996	D	0.93707	0.7020	10	0.87932	D	0	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	374;592	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	I	592;374	ENSP00000356468:M592I;ENSP00000375864:M374I	ENSP00000356468:M592I	M	-	3	0	IVNS1ABP	183533943	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.637000	0.83313	2.677000	0.91161	0.563000	0.77884	ATG		0.423	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
REN	5972	broad.mit.edu	37	1	204130489	204130489	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:204130489C>T	ENST00000272190.8	-	3	332	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	REN_ENST00000367195.2_Missense_Mutation_p.V102I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	102					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.V102I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGTCAAAGACGACTTTGAAG	0.582																																						uc001haq.2																			1	Substitution - Missense(1)	p.V102I(2)	NS(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(304-306)Gtc>Atc		Homo sapiens renin (REN), mRNA.	Aliskiren(DB01258)|Remikiren(DB00212)						74.0	60.0	64.0					1																	204130489		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204130489C>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.304G>A	1.37:g.204130489C>T	ENSP00000272190:p.Val102Ile						p.V102I	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	348	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		102					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.304G>A	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833732	0.32421	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.56611	0.45;0.45	5.51	-4.05	0.03998	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.417851	0.27664	N	0.018362	T	0.27384	0.0672	N	0.04787	-0.16	0.46241	D	0.998943	B	0.17268	0.021	B	0.17979	0.02	T	0.05616	-1.0874	10	0.18276	T	0.48	.	17.1488	0.86773	0.0:0.6863:0.0:0.3137	.	102	P00797	RENI_HUMAN	I	102;21;102	ENSP00000356163:V102I;ENSP00000272190:V102I	ENSP00000272190:V102I	V	-	1	0	REN	202397112	0.990000	0.36364	0.955000	0.39395	0.764000	0.43329	0.362000	0.20284	-0.745000	0.04772	-0.302000	0.09304	GTC		0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
HSD11B1	3290	broad.mit.edu	37	1	209880164	209880164	+	Splice_Site	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:209880164delG	ENST00000367028.2	+	4	499	c.330delG	c.(328-330)atg>at	p.M110fs	HSD11B1_ENST00000367027.3_Splice_Site_p.M110fs|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site_p.M110fs	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	110					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GAAAGCTCATGGGTGAGGCTG	0.517																																						uc001hhj.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.e4+1		Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	NADH(DB00157)						152.0	137.0	142.0					1																	209880164		2203	4300	6503	SO:0001630	splice_region_variant	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209880164delG	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.331+1G>-	1.37:g.209880164delG						HSD11B1_uc021pin.1_Splice_Site_p.G111_splice|HSD11B1_uc001hhk.3_Splice_Site_p.G111_splice	p.G111_splice	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	4	463	+			111					B2R9Z1|D3DT89	Frame_Shift_Del	DEL	ENST00000367028.2	37	c.331_splice	CCDS1489.1																																																																																				0.517	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525	Frame_Shift_Del
OR2T4	127074	broad.mit.edu	37	1	248525116	248525116	+	Silent	SNP	C	C	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248525116C>A	ENST00000366475.1	+	1	234	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTCCTGATCCTTCTGATAC	0.473																																						uc001ieh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(232-234)atC>atA		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.							432.0	309.0	351.0					1																	248525116		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525116C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.234C>A	1.37:g.248525116C>A							p.I78I	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	234	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		78					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.234C>A	CCDS31113.1																																																																																				0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
OR14I1	401994	broad.mit.edu	37	1	248844752	248844752	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248844752G>A	ENST00000342623.3	-	1	877	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATATATGATGGGATTGAGGAA	0.403																																						uc001ieu.1																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(853-855)cCc>cTc		Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.							88.0	85.0	86.0					1																	248844752		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844752G>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.854C>T	1.37:g.248844752G>A	ENSP00000339726:p.Pro285Leu						p.P285L	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			0	854	-			285						Missense_Mutation	SNP	ENST00000342623.3	37	c.854C>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.513456	0.64522	.	.	ENSG00000189181	ENST00000342623	T	0.63417	-0.04	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000339	T	0.79275	0.4418	M	0.84846	2.72	0.48975	D	0.999732	D	0.89917	1.0	D	0.97110	1.0	T	0.82739	-0.0308	10	0.72032	D	0.01	.	12.1968	0.54303	0.0:0.0:1.0:0.0	.	285	A6ND48	O14I1_HUMAN	L	285	ENSP00000339726:P285L	ENSP00000339726:P285L	P	-	2	0	OR14I1	246911375	1.000000	0.71417	0.228000	0.23943	0.734000	0.41952	6.794000	0.75135	1.675000	0.50919	0.543000	0.68304	CCC		0.403	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734	
ANKRD30A	91074	broad.mit.edu	37	10	37486209	37486209	+	Splice_Site	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:37486209A>G	ENST00000602533.1	+	28	2546	c.2447A>G	c.(2446-2448)gAg>gGg	p.E816G	ANKRD30A_ENST00000374660.1_Splice_Site_p.E935G|ANKRD30A_ENST00000361713.1_Splice_Site_p.E816G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	872					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTTTTAGAGCCTCCCGAG	0.338																																						uc021ppc.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.e28-1		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.							212.0	171.0	184.0					10																	37486209		1823	4092	5915	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486209A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2447-1A>G	10.37:g.37486209A>G						ANKRD30A_uc001iza.1_Splice_Site_p.E816_splice	p.E816_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			28	2546	+			872					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2447_splice		.	.	.	.	.	.	.	.	.	.	.	6.873	0.530425	0.13127	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07444	3.19;3.19	1.36	-2.73	0.05950	.	.	.	.	.	T	0.04861	0.0131	L	0.41824	1.3	0.09310	N	1	B	0.31931	0.347	B	0.23150	0.044	T	0.35276	-0.9795	8	.	.	.	.	2.327	0.04225	0.4746:0.3029:0.2225:0.0	.	872	Q9BXX3	AN30A_HUMAN	G	816;935	ENSP00000354432:E816G;ENSP00000363792:E935G	.	E	+	2	0	ANKRD30A	37526215	0.758000	0.28405	0.049000	0.19019	0.008000	0.06430	1.220000	0.32491	-0.999000	0.03442	-1.516000	0.00938	GAG		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Missense_Mutation
ARID5B	84159	broad.mit.edu	37	10	63816874	63816874	+	Splice_Site	SNP	A	A	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:63816874A>C	ENST00000279873.7	+	6	1256		c.e6-1		ARID5B_ENST00000309334.5_Splice_Site	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)						adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCCCTTTTCCAGGTGAAATGT	0.448																																						uc001jlt.2																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.e6-2		Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.							39.0	40.0	40.0					10																	63816874		2203	4300	6503	SO:0001630	splice_region_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63816874A>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.847-1A>C	10.37:g.63816874A>C						ARID5B_uc001jlu.2_Splice_Site_p.V40_splice	p.V283_splice	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			6	1303	+	Prostate(12;0.016)|all_hematologic(501;0.215)		283					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Splice_Site	SNP	ENST00000279873.7	37	c.847_splice	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026158	0.75390	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2676	0.82597	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID5B	63486880	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.381000	0.79718	2.243000	0.73865	0.533000	0.62120	.		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	Intron
PTEN	5728	broad.mit.edu	37	10	89717664	89717664	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:89717664G>A	ENST00000371953.3	+	7	2046	c.689G>A	c.(688-690)gGa>gAa	p.G230E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	230	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCAATTCAGGACCCACACGA	0.428		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		49	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)|Insertion - Frameshift(1)|Unknown(1)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(688-690)gGa>gAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							154.0	132.0	139.0					10																	89717664		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717664G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.689G>A	10.37:g.89717664G>A	ENSP00000361021:p.Gly230Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.G230E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1721	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	230			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.689G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788609	0.16258	.	.	ENSG00000171862	ENST00000371953	D	0.84800	-1.9	5.33	5.33	0.75918	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.355193	0.31301	N	0.007893	D	0.82273	0.5001	L	0.43152	1.355	0.45648	D	0.998579	B	0.27910	0.193	B	0.31390	0.129	T	0.77797	-0.2453	9	.	.	.	-11.5077	19.0178	0.92901	0.0:0.0:1.0:0.0	.	230	P60484	PTEN_HUMAN	E	230	ENSP00000361021:G230E	.	G	+	2	0	PTEN	89707644	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.732000	0.62029	2.483000	0.83821	0.585000	0.79938	GGA		0.428	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PDCD4	27250	broad.mit.edu	37	10	112655708	112655708	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:112655708T>C	ENST00000280154.7	+	11	1486	c.1212T>C	c.(1210-1212)ggT>ggC	p.G404G	PDCD4_ENST00000393104.2_Silent_p.G393G|MIR4680_ENST00000580906.1_RNA	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	404	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTTGTAGGGTTATGAGAGAA	0.353																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(1210-1212)ggT>ggC		Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.							89.0	91.0	90.0					10																	112655708		2202	4300	6502	SO:0001819	synonymous_variant	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112655708T>C	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1212T>C	10.37:g.112655708T>C						PDCD4_uc001kzg.3_Silent_p.G393G|PDCD4_uc010qre.2_Silent_p.G390G|PDCD4_uc021pye.1_5'Flank	p.G404G	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	10	1498	+		Breast(234;0.0848)|Lung NSC(174;0.238)	404			MI 2.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	37	c.1212T>C	CCDS7567.1																																																																																				0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456	
USP47	55031	broad.mit.edu	37	11	11969542	11969542	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:11969542C>T	ENST00000399455.2	+	22	3322	c.3202C>T	c.(3202-3204)Cat>Tat	p.H1068Y	USP47_ENST00000527733.1_Missense_Mutation_p.H1048Y|USP47_ENST00000339865.5_Missense_Mutation_p.H980Y|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1068					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTCAAACAACATTTAGAGCC	0.398																																						uc001mjs.3																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(3142-3144)Cat>Tat		Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.							156.0	147.0	149.0					11																	11969542		1838	4079	5917	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11969542C>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3202C>T	11.37:g.11969542C>T	ENSP00000382382:p.His1068Tyr					USP47_uc001mjr.3_Missense_Mutation_p.H980Y|USP47_uc009ygi.3_5'Flank	p.H1048Y	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	20	3905	+			1068					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3142C>T		.	.	.	.	.	.	.	.	.	.	C	15.57	2.873587	0.51695	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94613	-3.47;-3.47;-3.47	5.46	5.46	0.80206	.	0.184675	0.64402	D	0.000018	D	0.90096	0.6906	L	0.27053	0.805	0.80722	D	1	B;B	0.25105	0.072;0.118	B;B	0.25140	0.026;0.058	D	0.86558	0.1839	10	0.13108	T	0.6	.	18.9109	0.92485	0.0:1.0:0.0:0.0	.	1048;980	E9PM46;Q96K76-2	.;.	Y	980;1048;1068	ENSP00000339957:H980Y;ENSP00000433146:H1048Y;ENSP00000382382:H1068Y	ENSP00000339957:H980Y	H	+	1	0	USP47	11926118	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.873000	0.63057	2.534000	0.85438	0.591000	0.81541	CAT		0.398	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
RTN3	10313	broad.mit.edu	37	11	63487657	63487657	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:63487657C>T	ENST00000377819.5	+	3	1837	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.D449D|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.D542D	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	561					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGTCAGTGACTCTGAGCTGC	0.408																																						uc001nxq.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1681-1683)gaC>gaT		Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.							69.0	70.0	70.0					11																	63487657		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487657C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1683C>T	11.37:g.63487657C>T						RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.D449D|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.D542D|RTN3_uc001nxo.3_Intron	p.D561D	NM_201428	NP_958831	O95197	RTN3_HUMAN			2	1870	+			561					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.1683C>T	CCDS58141.1																																																																																				0.408	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
SLC22A20	440044	broad.mit.edu	37	11	64990066	64990067	+	RNA	DNP	AG	AG	GT	rs375424754		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:64990066_64990067AG>GT	ENST00000525437.1	+	0	964_965							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGACCAAGGAGGTAAGCGAGC	0.545																																						uc021qlg.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						c.e4+1		Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.																																						440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64990066_64990067AG>GT	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615	Exception_encountered	11.37:g.64990066_64990067delinsGT						SLC22A20_uc021qlh.1_Splice_Site_p.E94_splice	p.G255_splice	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			4	796	+			0					B9EJB2|Q6ZN88	Missense_Mutation	DNP	ENST00000525437.1	37	c.763_splice																																																																																					0.545	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326	
CDC42EP2	10435	broad.mit.edu	37	11	65088799	65088799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:65088799G>T	ENST00000544348.1	+	2	1036	c.430G>T	c.(430-432)Gag>Tag	p.E144*	CDC42EP2_ENST00000279249.2_Nonsense_Mutation_p.E144*|CDC42EP2_ENST00000533419.1_Nonsense_Mutation_p.E144*			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	144					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						TTCCCCACAGGAGGGAGGGAG	0.667																																						uc021qli.1																			0				lung(1)	1						c.(430-432)Gag>Tag		Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.							64.0	52.0	56.0					11																	65088799		2201	4297	6498	SO:0001587	stop_gained	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088799G>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.430G>T	11.37:g.65088799G>T	ENSP00000442534:p.Glu144*					CDC42EP2_uc001odl.3_Nonsense_Mutation_p.E144*	p.E144*	NM_006779	NP_006770	O14613	BORG1_HUMAN			0	430	+			144					B2RD85|Q9UNS0	Nonsense_Mutation	SNP	ENST00000544348.1	37	c.430G>T	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	G	38	6.642158	0.97726	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	.	.	.	5.23	5.23	0.72850	.	4.194120	0.00481	N	0.000140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	0.5316	9.6621	0.39960	0.0918:0.0:0.9082:0.0	.	.	.	.	X	144	.	ENSP00000279249:E144X	E	+	1	0	CDC42EP2	64845375	0.937000	0.31787	1.000000	0.80357	0.577000	0.36160	2.364000	0.44187	2.720000	0.93068	0.591000	0.81541	GAG		0.667	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779	
C1S	716	broad.mit.edu	37	12	7177423	7177423	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:7177423C>T	ENST00000406697.1	+	15	2163	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C1S_ENST00000360817.5_Missense_Mutation_p.P512L|C1S_ENST00000328916.3_Missense_Mutation_p.P512L|C1S_ENST00000402681.3_Missense_Mutation_p.P345L|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	512	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.P512L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTATTCATCCGGGATGGAAG	0.512																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.3																			1	Substitution - Missense(1)	p.P512L(2)	lung(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1534-1536)cCg>cTg		Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						57.0	55.0	56.0					12																	7177423		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177423C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1535C>T	12.37:g.7177423C>T	ENSP00000385035:p.Pro512Leu					C1S_uc001qsk.3_Missense_Mutation_p.P512L|C1S_uc001qsl.3_Missense_Mutation_p.P512L|C1S_uc009zfr.3_Missense_Mutation_p.P345L|C1S_uc009zfs.3_Non-coding_Transcript	p.P512L	NM_201442	NP_958850	P09871	C1S_HUMAN			14	2254	+			512			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1535C>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304127	0.81136	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.16	4.23	0.50019	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000750	D	0.90714	0.7086	M	0.90082	3.085	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	D	0.92377	0.5910	10	0.87932	D	0	.	15.2043	0.73165	0.141:0.859:0.0:0.0	.	512	P09871	C1S_HUMAN	L	512;512;512;506;345	ENSP00000385035:P512L;ENSP00000328173:P512L;ENSP00000354057:P512L;ENSP00000384171:P345L	ENSP00000328173:P512L	P	+	2	0	C1S	7047684	0.998000	0.40836	0.940000	0.37924	0.816000	0.46133	4.126000	0.57937	2.676000	0.91093	0.561000	0.74099	CCG		0.512	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
CFAP54	144535	broad.mit.edu	37	12	97087506	97087506	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:97087506C>T	ENST00000524981.4	+	45	6294	c.6271C>T	c.(6271-6273)Cct>Tct	p.P2091S				Q96N23	CL055_HUMAN		0																	ATAGGTTCTGCCTCTCCTTGC	0.289																																						uc021rcc.1																			0		p.L515L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1546-1548)Cct>Tct		RecName: Full=Putative uncharacterized protein C12orf63;							134.0	132.0	132.0					12																	97087506		2202	4298	6500	SO:0001583	missense	374467							g.chr12:97087506C>T																												ENST00000524981.4:c.6271C>T	12.37:g.97087506C>T	ENSP00000431759:p.Pro2091Ser						p.P516S			Q6ZTY8	CL063_HUMAN			11	1624	+			516						Missense_Mutation	SNP	ENST00000524981.4	37	c.1546C>T		.	.	.	.	.	.	.	.	.	.	C	16.91	3.253335	0.59212	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.97	5.97	0.96955	.	0.060696	0.64402	D	0.000003	D	0.84047	0.5386	.	.	.	0.45995	D	0.998801	D	0.89917	1.0	D	0.97110	1.0	D	0.84743	0.0752	8	0.87932	D	0	-15.4174	20.428	0.99075	0.0:1.0:0.0:0.0	.	516	Q6ZTY8	CL063_HUMAN	S	2091;516	.	ENSP00000345466:P516S	P	+	1	0	C12orf63	95611637	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	5.090000	0.64498	2.837000	0.97791	0.655000	0.94253	CCT		0.289	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		
SELPLG	6404	broad.mit.edu	37	12	109017719	109017719	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:109017719T>C	ENST00000550948.1	-	2	589	c.365A>G	c.(364-366)cAg>cGg	p.Q122R	SELPLG_ENST00000228463.6_Missense_Mutation_p.Q138R|SELPLG_ENST00000388962.3_Missense_Mutation_p.Q122R			Q14242	SELPL_HUMAN	selectin P ligand	122	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TTGAGTGGTCTGTATCTCCAT	0.602																																						uc010sxe.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(412-414)cAg>cGg		Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.							146.0	123.0	131.0					12																	109017719		2203	4300	6503	SO:0001583	missense	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017719T>C		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.365A>G	12.37:g.109017719T>C	ENSP00000447752:p.Gln122Arg					SELPLG_uc001tni.3_Missense_Mutation_p.Q122R|SELPLG_uc021rdm.1_Missense_Mutation_p.Q122R|SELPLG_uc001tnh.3_Missense_Mutation_p.Q122R	p.Q138R	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN			1	590	-			122		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).	12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.413A>G	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	T	4.421	0.077773	0.08485	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.15017	2.55;2.46;2.46	3.45	-6.89	0.01660	.	4.873430	0.00649	N	0.000550	T	0.11707	0.0285	L	0.36672	1.1	0.09310	N	1	B;B	0.22414	0.069;0.035	B;B	0.20384	0.029;0.016	T	0.17379	-1.0371	10	0.16896	T	0.51	.	6.2486	0.20833	0.2303:0.0:0.3116:0.458	.	138;122	B7Z5C7;Q14242	.;SELPL_HUMAN	R	122;122;138	ENSP00000373614:Q122R;ENSP00000447752:Q122R;ENSP00000228463:Q138R	ENSP00000228463:Q138R	Q	-	2	0	SELPLG	107541848	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.547000	0.06055	-2.738000	0.00380	-0.669000	0.03829	CAG		0.602	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
TPCN1	53373	broad.mit.edu	37	12	113729743	113729743	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:113729743G>A	ENST00000335509.6	+	25	2407	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	TPCN1_ENST00000550785.1_Missense_Mutation_p.R770H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R630H|TPCN1_ENST00000541517.1_Missense_Mutation_p.R770H	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	698					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AACTACAGCCGCAAGAACCAG	0.582																																						uc001tux.3																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2308-2310)cGc>cAc		Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.							118.0	102.0	108.0					12																	113729743		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113729743G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2093G>A	12.37:g.113729743G>A	ENSP00000335300:p.Arg698His					TPCN1_uc001tuw.3_Missense_Mutation_p.R698H|TPCN1_uc010syu.2_5'Flank	p.R770H	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN			25	2483	+			698					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.2309G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664230	0.96745	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.97066	-4.12;-4.23;-4.23;-4.18	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.971	D	0.98979	1.0804	10	0.72032	D	0.01	-26.6494	19.3504	0.94381	0.0:0.0:1.0:0.0	.	770;698	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	H	698;770;770;630	ENSP00000335300:R698H;ENSP00000448083:R770H;ENSP00000438125:R770H;ENSP00000376350:R630H	ENSP00000335300:R698H	R	+	2	0	TPCN1	112214126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.232000	0.95325	2.629000	0.89072	0.655000	0.94253	CGC		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901	
KSR2	283455	broad.mit.edu	37	12	118198974	118198974	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:118198974C>T	ENST00000339824.5	-	4	1555	c.828G>A	c.(826-828)acG>acA	p.T276T	KSR2_ENST00000425217.1_Silent_p.T247T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	276	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGGGCGGCGTGCCCGGCG	0.706																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(739-741)acG>acA		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							82.0	100.0	94.0					12																	118198974		1868	4096	5964	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198974C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.828G>A	12.37:g.118198974C>T							p.T247T	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			3	796	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		276			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.741G>A																																																																																					0.706	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
CLIP1	6249	broad.mit.edu	37	12	122803873	122803873	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:122803873G>A	ENST00000540338.1	-	17	3313	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	CLIP1_ENST00000361654.4_Missense_Mutation_p.A969V|CLIP1_ENST00000302528.7_Missense_Mutation_p.A1080V|CLIP1_ENST00000358808.2_Missense_Mutation_p.A1080V|CLIP1_ENST00000537178.1_Missense_Mutation_p.A1045V|CLIP1_ENST00000545889.1_Missense_Mutation_p.A666V			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1091					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TATCTGCATGGCATCTTCCGC	0.478																																						uc001ucg.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3271-3273)gCc>gTc		Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.							154.0	126.0	136.0					12																	122803873		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122803873G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3272C>T	12.37:g.122803873G>A	ENSP00000439093:p.Ala1091Val					CLIP1_uc001uch.1_Missense_Mutation_p.A1080V|CLIP1_uc001uci.1_Missense_Mutation_p.A1045V|CLIP1_uc001ucj.1_Missense_Mutation_p.A666V	p.A1091V	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	17	3427	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1091					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3272C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050382	0.55218	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.46	5.46	0.80206	.	0.317330	0.33075	N	0.005320	T	0.22820	0.0551	N	0.17082	0.46	0.37491	D	0.916378	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.14578	0.011;0.011;0.005	T	0.11275	-1.0594	10	0.27785	T	0.31	-3.4485	11.6677	0.51383	0.0886:0.0:0.9114:0.0	.	1045;1080;1091	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	V	666;1080;1080;810;122;1045;1091	ENSP00000438743:A666V;ENSP00000303585:A1080V;ENSP00000351665:A1080V;ENSP00000445531:A1045V;ENSP00000439093:A1091V	ENSP00000303585:A1080V	A	-	2	0	CLIP1	121369826	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	5.088000	0.64486	2.726000	0.93360	0.655000	0.94253	GCC		0.478	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
EP400	57634	broad.mit.edu	37	12	132527862	132527862	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:132527862T>A	ENST00000333577.4	+	34	6438	c.6329T>A	c.(6328-6330)aTt>aAt	p.I2110N	EP400_ENST00000332482.4_Missense_Mutation_p.I2037N|EP400_ENST00000330386.6_Missense_Mutation_p.I1993N|EP400_ENST00000389561.2_Missense_Mutation_p.I2074N|EP400_ENST00000389562.2_Missense_Mutation_p.I2073N			Q96L91	EP400_HUMAN	E1A binding protein p400	2110					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAAGAGTATTGAGTATCTG	0.463																																						uc001ujn.3																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(6220-6222)aTt>aAt		Homo sapiens E1A binding protein p400 (EP400), mRNA.							64.0	61.0	62.0					12																	132527862		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132527862T>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6329T>A	12.37:g.132527862T>A	ENSP00000333602:p.Ile2110Asn					EP400_uc021rgq.1_Missense_Mutation_p.I2073N|EP400_uc001ujm.3_Missense_Mutation_p.I1993N	p.I2074N	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	32	6373	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2110					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.6221T>A		.	.	.	.	.	.	.	.	.	.	T	12.56	1.974730	0.34848	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90563	-2.69;-2.67;-2.69;-2.69;-2.68	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94371	0.8190	M	0.75447	2.3	0.38102	D	0.937297	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.65010	0.931;0.931;0.931	D	0.94516	0.7723	10	0.35671	T	0.21	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	2074;1993;2073	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	N	2110;2074;2073;2037;1993;2074	ENSP00000333602:I2110N;ENSP00000374212:I2074N;ENSP00000374213:I2073N;ENSP00000331737:I2037N;ENSP00000330620:I1993N	ENSP00000330620:I1993N	I	+	2	0	EP400	131093815	0.998000	0.40836	0.977000	0.42913	0.971000	0.66376	4.070000	0.57548	2.190000	0.69967	0.460000	0.39030	ATT		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
SLC15A1	6564	broad.mit.edu	37	13	99356577	99356577	+	Missense_Mutation	SNP	G	G	A	rs141206459		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr13:99356577G>A	ENST00000376503.5	-	17	1437	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	461					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CACTAGAAGCGTGTGGCGTTG	0.453																																						uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1381-1383)aCg>aTg		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	160.0	147.0	151.0		1382	3.5	0.9	13	dbSNP_134	151	0,8600		0,0,4300	no	missense	SLC15A1	NM_005073.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	461/709	99356577	1,13005	2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99356577G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1382C>T	13.37:g.99356577G>A	ENSP00000365686:p.Thr461Met						p.T461M	NM_005073	NP_005064	P46059	S15A1_HUMAN			16	1459	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		461					Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.1382C>T	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854566	0.32791	2.27E-4	0.0	ENSG00000088386	ENST00000376503	T	0.04809	3.55	5.37	3.54	0.40534	Major facilitator superfamily domain, general substrate transporter (1);	0.111606	0.64402	D	0.000010	T	0.19366	0.0465	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00350	-1.1797	10	0.66056	D	0.02	-36.7966	8.2414	0.31662	0.0884:0.1571:0.7545:0.0	.	461	P46059	S15A1_HUMAN	M	461	ENSP00000365686:T461M	ENSP00000365686:T461M	T	-	2	0	SLC15A1	98154578	1.000000	0.71417	0.926000	0.36857	0.010000	0.07245	1.915000	0.39976	1.406000	0.46857	0.655000	0.94253	ACG		0.453	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
OR11H12	440153	broad.mit.edu	37	14	19378103	19378103	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:19378103G>T	ENST00000550708.1	+	1	582	c.510G>T	c.(508-510)tgG>tgT	p.W170C		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTTCTGTGGTTCCTGATCC	0.483																																						uc010tkp.2																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(508-510)tgG>tgT		Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.							127.0	138.0	135.0					14																	19378103		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378103G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.510G>T	14.37:g.19378103G>T	ENSP00000449002:p.Trp170Cys						p.W170C	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	510	+	all_cancers(95;0.00108)		170						Missense_Mutation	SNP	ENST00000550708.1	37	c.510G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.152461	0.00325	.	.	ENSG00000257115	ENST00000550708	T	0.37584	1.19	0.585	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	0.365515	0.20003	N	0.101298	T	0.12475	0.0303	N	0.04148	-0.265	0.26925	N	0.966591	B	0.13594	0.008	B	0.16722	0.016	T	0.06734	-1.0810	9	0.38643	T	0.18	.	1.712	0.02893	0.2525:0.0:0.4185:0.3291	.	170	B2RN74	O11HC_HUMAN	C	170	ENSP00000449002:W170C	ENSP00000449002:W170C	W	+	3	0	CR383656.1	18448103	0.000000	0.05858	0.818000	0.32626	0.074000	0.17049	-1.985000	0.01485	-0.219000	0.10003	-2.446000	0.00210	TGG		0.483	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354	
OR4Q3	441669	broad.mit.edu	37	14	20216022	20216022	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:20216022G>T	ENST00000331723.1	+	1	436	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTGGTTGGTTCTTGCCTG	0.488																																						uc010tkt.2																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(436-438)Gtt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.							95.0	99.0	97.0					14																	20216022		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216022G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.436G>T	14.37:g.20216022G>T	ENSP00000330049:p.Val146Phe						p.V146F	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	436	+	all_cancers(95;0.00108)		146					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.436G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.992	0.977999	0.18812	.	.	ENSG00000182652	ENST00000331723	T	0.39997	1.05	4.09	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36134	U	0.002761	T	0.55784	0.1942	M	0.92970	3.365	0.09310	N	1	P	0.45957	0.869	P	0.49252	0.604	T	0.53500	-0.8430	10	0.87932	D	0	.	6.6347	0.22877	0.42:0.0:0.58:0.0	.	146	Q8NH05	OR4Q3_HUMAN	F	146	ENSP00000330049:V146F	ENSP00000330049:V146F	V	+	1	0	OR4Q3	19285862	0.001000	0.12720	0.926000	0.36857	0.235000	0.25334	0.470000	0.22084	0.387000	0.25024	-0.487000	0.04747	GTT		0.488	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2		
BCL2L2	599	broad.mit.edu	37	14	23777257	23777258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:23777257_23777258insC	ENST00000250405.5	+	3	510_511	c.281_282insC	c.(280-285)ggccgcfs	p.R95fs	BCL2L2-PABPN1_ENST00000553781.1_Frame_Shift_Ins_p.R95fs|BCL2L2-PABPN1_ENST00000557008.1_Frame_Shift_Ins_p.R95fs	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	95					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CCCAACTGGGGCCGCCTTGTAG	0.574																																						uc001wjh.4																			0											c.(280-282)ggcfs		Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																																				SO:0001589	frameshift_variant	8106							g.chr14:23777257_23777258insC	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	995	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 51"""	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.283dupC	14.37:g.23777259_23777259dupC	ENSP00000250405:p.Arg95fs					BCL2L2-PABPN1_uc001wjg.4_Frame_Shift_Ins_p.G94fs|BCL2L2-PABPN1_uc021rqx.1_Frame_Shift_Ins_p.G94fs|BCL2L2-PABPN1_uc001wji.4_Frame_Shift_Ins_p.G94fs	p.G94fs	NM_001199864	NP_001186793					2	510_511	+								A8K0F4|Q2M3U0|Q5U0H4	Frame_Shift_Ins	INS	ENST00000250405.5	37	c.281_282insC	CCDS9591.1																																																																																				0.574	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050	
KHNYN	23351	broad.mit.edu	37	14	24901649	24901649	+	Silent	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:24901649G>C	ENST00000251343.5	+	3	1321	c.1182G>C	c.(1180-1182)cgG>cgC	p.R394R	KHNYN_ENST00000556842.1_Silent_p.R394R|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Silent_p.R394R|KHNYN_ENST00000554268.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	394							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCATGGCACGGGGTCGGGGGC	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tpc.2																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(1303-1305)cgG>cgC		Homo sapiens KH and NYN domain containing (KHNYN), mRNA.							19.0	21.0	21.0					14																	24901649		2198	4270	6468	SO:0001819	synonymous_variant	23351							g.chr14:24901649G>C	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1182G>C	14.37:g.24901649G>C			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc001wph.4_Silent_p.R394R|KHNYN_uc010alw.3_Silent_p.R394R|CBLN3_uc001wpg.4_5'Flank	p.R435R	NM_015299	NP_056114	O15037	KHNYN_HUMAN			2	1321	+			394					Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	c.1305G>C	CCDS32058.1																																																																																				0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		
MARK3	4140	broad.mit.edu	37	14	103933475	103933475	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:103933475A>C	ENST00000429436.2	+	11	1567	c.1057A>C	c.(1057-1059)Aaa>Caa	p.K353Q	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.K376Q|MARK3_ENST00000216288.7_Missense_Mutation_p.K353Q|MARK3_ENST00000440884.3_Missense_Mutation_p.K274Q|MARK3_ENST00000553942.1_Missense_Mutation_p.K353Q|MARK3_ENST00000303622.9_Missense_Mutation_p.K353Q|MARK3_ENST00000335102.5_Missense_Mutation_p.K376Q	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	353	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TAGTAAGATGAAATACGATGA	0.328																																						uc001ymz.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1057-1059)Aaa>Caa		Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.							102.0	101.0	101.0					14																	103933475		1810	4070	5880	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103933475A>C	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1057A>C	14.37:g.103933475A>C	ENSP00000411397:p.Lys353Gln					MARK3_uc001ymx.4_Missense_Mutation_p.K353Q|MARK3_uc001ymw.4_Missense_Mutation_p.K353Q|MARK3_uc001yna.4_Missense_Mutation_p.K353Q|MARK3_uc001ymy.4_Missense_Mutation_p.K274Q|MARK3_uc010awp.3_Missense_Mutation_p.K376Q|MARK3_uc010tyb.2_Missense_Mutation_p.K164Q	p.K353Q	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		10	1723	+		Melanoma(154;0.155)	353			UBA.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1057A>C	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.00|13.00	2.105516|2.105516	0.37145|0.37145	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942|ENST00000554627	T;T;T;T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42;1.42;1.42;1.42|.	5.71|5.71	4.57|4.57	0.56435|0.56435	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Protein kinase-like domain (1);|.	0.041854|.	0.85682|.	N|.	0.000000|.	T|.	0.72969|.	0.3527|.	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;P;P;B;P;D;B|.	0.54601|.	0.511;0.511;0.638;0.324;0.92;0.967;0.254|.	B;B;B;B;B;P;B|.	0.55667|.	0.373;0.373;0.231;0.07;0.171;0.781;0.102|.	T|.	0.72981|.	-0.4126|.	10|.	0.66056|.	D|.	0.02|.	.|.	11.7509|11.7509	0.51847|0.51847	0.9311:0.0:0.0689:0.0|0.9311:0.0:0.0689:0.0	.|.	376;376;353;353;274;353;353|.	P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;MARK3_HUMAN;.;.;.|.	Q|C	376;2;274;376;353;353;353;353|120	ENSP00000335347:K376Q;ENSP00000402104:K274Q;ENSP00000408092:K376Q;ENSP00000411397:K353Q;ENSP00000303698:K353Q;ENSP00000216288:K353Q;ENSP00000450772:K353Q|.	ENSP00000216288:K353Q|.	K|X	+|+	1|3	0|0	MARK3|MARK3	103003228|103003228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.001000|0.001000	0.01503|0.01503	9.169000|9.169000	0.94788|0.94788	0.988000|0.988000	0.38734|0.38734	-0.363000|-0.363000	0.07495|0.07495	AAA|TGA		0.328	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	
NPAP1	23742	broad.mit.edu	37	15	24924482	24924482	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr15:24924482G>A	ENST00000329468.2	+	1	3942	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1156P(1)									TCCAACTTCCGTAAGAGCACC	0.423																																						uc001ywo.3																			1	Substitution - coding silent(1)	p.P1156P(2)|p.L1155F(1)|p.P1156Q(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(3466-3468)ccG>ccA		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							70.0	62.0	64.0					15																	24924482		2202	4298	6500	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24924482G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3468G>A	15.37:g.24924482G>A							p.P1156P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	3942	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	1156						Silent	SNP	ENST00000329468.2	37	c.3468G>A	CCDS10015.1																																																																																				0.423	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
GRIN2A	2903	broad.mit.edu	37	16	10032404	10032404	+	Missense_Mutation	SNP	G	G	A	rs142566406		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:10032404G>A	ENST00000396573.2	-	4	728	c.419C>T	c.(418-420)cCg>cTg	p.P140L	GRIN2A_ENST00000404927.2_Missense_Mutation_p.P140L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P140L|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P140L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P140L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	140					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTAGACGTCGGATCCTGCCA	0.478																																						uc010uym.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(418-420)cCg>cTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	G	LEU/PRO,LEU/PRO,LEU/PRO	0,4300		0,0,2150	40.0	38.0	38.0		419,419,419	4.5	1.0	16	dbSNP_134	38	2,8340		0,2,4169	no	missense,missense,missense	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	98,98,98	0,2,6319	AA,AG,GG		0.024,0.0,0.0158	benign,benign,benign	140/1465,140/1465,140/1282	10032404	2,12640	2150	4171	6321	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032404G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.419C>T	16.37:g.10032404G>A	ENSP00000379818:p.Pro140Leu					GRIN2A_uc002czo.4_Missense_Mutation_p.P140L|GRIN2A_uc010uyn.2_5'UTR|GRIN2A_uc002czr.4_Missense_Mutation_p.P140L	p.P140L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			3	729	-			140					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.419C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197871	0.38806	0.0	2.4E-4	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.48	4.46	0.54185	Extracellular ligand-binding receptor (1);	0.332587	0.31392	N	0.007732	T	0.69842	0.3156	L	0.38175	1.15	0.80722	D	1	B;B	0.28584	0.027;0.216	B;B	0.22386	0.028;0.039	T	0.64241	-0.6454	9	.	.	.	.	5.8773	0.18836	0.0913:0.0:0.5813:0.3274	.	140;140	Q17RZ6;Q12879	.;NMDE1_HUMAN	L	140	ENSP00000379818:P140L;ENSP00000385872:P140L;ENSP00000332549:P140L;ENSP00000379820:P140L	.	P	-	2	0	GRIN2A	9939905	0.570000	0.26651	0.953000	0.39169	0.931000	0.56810	1.316000	0.33620	2.724000	0.93272	0.563000	0.77884	CCG		0.478	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
MYH11	4629	broad.mit.edu	37	16	15811149	15811149	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:15811149C>G	ENST00000300036.5	-	38	5461	c.5352G>C	c.(5350-5352)gaG>gaC	p.E1784D	MYH11_ENST00000452625.2_Missense_Mutation_p.E1791D|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1791D|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1784D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1784					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGGGCACTCTCATTCTTCT	0.647			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(5371-5373)gaG>gaC		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							66.0	64.0	65.0					16																	15811149		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15811149C>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5352G>C	16.37:g.15811149C>G	ENSP00000300036:p.Glu1784Asp					MYH11_uc002ddv.3_Missense_Mutation_p.E1791D|MYH11_uc002ddw.3_Missense_Mutation_p.E1784D|MYH11_uc002ddy.3_Missense_Mutation_p.E1784D|MYH11_uc010bvg.3_Missense_Mutation_p.E1616D|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E490D	p.E1791D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			38	5480	-			1784					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5373G>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752541	0.49362	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.33	4.33	0.51752	Myosin tail (1);	0.062472	0.64402	D	0.000004	D	0.84606	0.5509	L	0.57536	1.79	0.80722	D	1	B;B;B;B;B	0.31989	0.092;0.19;0.35;0.19;0.092	B;B;P;B;B	0.46585	0.246;0.327;0.521;0.327;0.246	D	0.84323	0.0517	10	0.52906	T	0.07	.	9.6311	0.39780	0.0:0.8898:0.0:0.1102	.	1791;1784;1791;1784;1791	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	1784;1784;1791;1791;1791	ENSP00000300036:E1784D;ENSP00000345136:E1784D;ENSP00000379616:E1791D;ENSP00000407821:E1791D	ENSP00000300036:E1784D	E	-	3	2	MYH11	15718650	0.999000	0.42202	0.992000	0.48379	0.991000	0.79684	0.743000	0.26231	1.977000	0.57605	0.462000	0.41574	GAG		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
DNAH3	55567	broad.mit.edu	37	16	20952865	20952865	+	Splice_Site	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:20952865C>T	ENST00000261383.3	-	59	11511	c.11512G>A	c.(11512-11514)Gaa>Aaa	p.E3838K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3838					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAACCACTTCCTTAAAATGC	0.453																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.e59-1		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							96.0	91.0	93.0					16																	20952865		2201	4300	6501	SO:0001630	splice_region_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952865C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11512-1G>A	16.37:g.20952865C>T						DNAH3_uc010vbd.2_Splice_Site_p.E1273_splice	p.E3838_splice	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11512	-			3838					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11512_splice	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217130	0.58560	.	.	ENSG00000158486	ENST00000261383	T	0.10382	2.88	5.79	5.79	0.91817	Dynein heavy chain (1);	0.129168	0.52532	D	0.000073	T	0.17408	0.0418	M	0.71036	2.16	0.80722	D	1	B	0.23650	0.089	B	0.26969	0.075	T	0.00923	-1.1513	10	0.56958	D	0.05	.	15.1959	0.73088	0.0:0.9311:0.0:0.0689	.	3838	Q8TD57	DYH3_HUMAN	K	3838	ENSP00000261383:E3838K	ENSP00000261383:E3838K	E	-	1	0	DNAH3	20860366	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.826000	0.55738	2.746000	0.94184	0.655000	0.94253	GAA		0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	Missense_Mutation
OTOA	146183	broad.mit.edu	37	16	21698929	21698929	+	Missense_Mutation	SNP	C	C	T	rs148114778		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:21698929C>T	ENST00000286149.4	+	7	596	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	OTOA_ENST00000388956.4_Missense_Mutation_p.R120W|OTOA_ENST00000388958.3_Missense_Mutation_p.R199W			Q7RTW8	OTOAN_HUMAN	otoancorin	199					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATCACAGAGCGGCTCCCTCG	0.532																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(595-597)Cgg>Tgg		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	0,4398		0,0,2199	43.0	41.0	42.0		358,595	0.7	0.0	16	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OTOA	NM_001161683.1,NM_144672.3	101,101	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	120/1061,199/1140	21698929	1,12997	2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698929C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.595C>T	16.37:g.21698929C>T	ENSP00000286149:p.Arg199Trp					LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R120W	p.R199W	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	6	596	+			199					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.595C>T		.	.	.	.	.	.	.	.	.	.	C	4.979	0.181862	0.09495	0.0	1.16E-4	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.13196	2.61;2.61;2.61	4.46	0.666	0.17901	.	0.634312	0.16139	N	0.227834	T	0.10937	0.0267	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.22800	-1.0206	10	0.72032	D	0.01	-2.1408	6.2093	0.20619	0.4963:0.362:0.0:0.1416	.	120;199	B3KWU3;E9PF51	.;.	W	199;199;120	ENSP00000373610:R199W;ENSP00000286149:R199W;ENSP00000373608:R120W	ENSP00000286149:R199W	R	+	1	2	OTOA	21606430	0.000000	0.05858	0.016000	0.15963	0.103000	0.19146	0.221000	0.17680	-0.173000	0.10761	-0.491000	0.04670	CGG		0.532	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
SETD1A	9739	broad.mit.edu	37	16	30975479	30975479	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:30975479G>A	ENST00000262519.8	+	6	1390	c.704G>A	c.(703-705)gGc>gAc	p.G235D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	235					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTGCGGTGGGCACTCCTGGC	0.627																																						uc002ead.1																			0		p.V234M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(703-705)gGc>gAc		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							101.0	89.0	93.0					16																	30975479		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30975479G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.704G>A	16.37:g.30975479G>A	ENSP00000262519:p.Gly235Asp					SETD1A_uc002eae.1_Missense_Mutation_p.G235D	p.G235D	NM_014712	NP_055527	O15047	SET1A_HUMAN			5	1390	+			235					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.704G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451425	0.43531	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	D	0.93953	-3.32	5.68	4.67	0.58626	.	0.128861	0.34580	N	0.003849	D	0.88514	0.6457	N	0.08118	0	0.32070	N	0.594593	D	0.61080	0.989	P	0.52793	0.709	D	0.88569	0.3128	10	0.51188	T	0.08	.	10.1803	0.42963	0.0:0.0:0.7541:0.2459	.	235	O15047	SET1A_HUMAN	D	235	ENSP00000262519:G235D	ENSP00000262519:G235D	G	+	2	0	SETD1A	30882980	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.316000	0.43761	2.675000	0.91044	0.561000	0.74099	GGC		0.627	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
ARHGEF15	22899	broad.mit.edu	37	17	8219094	8219094	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:8219094C>T	ENST00000361926.3	+	8	1553	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	ARHGEF15_ENST00000421050.1_Silent_p.S481S|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	481	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGCTCCTGTCCCGTGTGCGCT	0.582																																						uc002glc.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1441-1443)tcC>tcT		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.							76.0	72.0	74.0					17																	8219094		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8219094C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1443C>T	17.37:g.8219094C>T						ARHGEF15_uc002gld.3_Silent_p.S481S|ARHGEF15_uc010vuw.2_Silent_p.S370S	p.S481S	NM_173728	NP_776089	O94989	ARHGF_HUMAN			7	1598	+			481			DH.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1443C>T	CCDS11139.1																																																																																				0.582	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728	
RNF112	7732	broad.mit.edu	37	17	19316608	19316608	+	Missense_Mutation	SNP	G	G	A	rs377199559		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:19316608G>A	ENST00000461366.1	+	5	819	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	202	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						TGGTGAGGGCGGCCGGCCAAG	0.652																																						uc010vyw.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(604-606)Ggc>Agc		Homo sapiens ring finger protein 112 (RNF112), mRNA.		G	SER/GLY	0,3940		0,0,1970	21.0	26.0	24.0		604	-9.8	0.0	17		24	1,8287		0,1,4143	no	missense	RNF112	NM_007148.4	56	0,1,6113	AA,AG,GG		0.0121,0.0,0.0082	benign	202/632	19316608	1,12227	1970	4144	6114	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316608G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.604G>A	17.37:g.19316608G>A	ENSP00000454919:p.Gly202Ser					RNF112_uc010vyu.2_3'UTR|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.G85S	p.G202S	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			4	835	+			202					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.604G>A	CCDS58529.1																																																																																				0.652	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148	
KRT37	8688	broad.mit.edu	37	17	39580498	39580498	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:39580498C>T	ENST00000225550.3	-	1	277	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	93	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCGTAGGCCCCACAGATTCC	0.602																																						uc002hwp.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(277-279)gGg>gAg		Homo sapiens keratin 37 (KRT37), mRNA.							81.0	68.0	72.0					17																	39580498		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580498C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.278G>A	17.37:g.39580498C>T	ENSP00000225550:p.Gly93Glu						p.G93E	NM_003770	NP_003761	O76014	KRT37_HUMAN			0	325	-		Breast(137;0.000496)	93			Head.			Missense_Mutation	SNP	ENST00000225550.3	37	c.278G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	5.752	0.323196	0.10900	.	.	ENSG00000108417	ENST00000225550	D	0.82984	-1.67	4.69	2.63	0.31362	.	0.128902	0.35207	N	0.003378	T	0.76659	0.4018	L	0.53249	1.67	0.09310	N	1	B	0.25390	0.125	B	0.22753	0.041	T	0.66204	-0.5982	10	0.49607	T	0.09	.	8.8841	0.35392	0.0:0.7659:0.1504:0.0837	.	93	O76014	KRT37_HUMAN	E	93	ENSP00000225550:G93E	ENSP00000225550:G93E	G	-	2	0	KRT37	36834024	0.000000	0.05858	0.026000	0.17262	0.066000	0.16364	0.634000	0.24614	0.391000	0.25143	0.655000	0.94253	GGG		0.602	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
TRIM65	201292	broad.mit.edu	37	17	73887344	73887344	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:73887344C>T	ENST00000269383.3	-	6	1135	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGGACTGACGACAGTGCTT	0.627																																						uc002jpx.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1069-1071)cGt>cAt		Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.							23.0	26.0	25.0					17																	73887344		2184	4237	6421	SO:0001583	missense	201292					intracellular	zinc ion binding	g.chr17:73887344C>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1070G>A	17.37:g.73887344C>T	ENSP00000269383:p.Arg357His						p.R357H	NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	1106	-			357			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	c.1070G>A	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.840|0.840	-0.742236|-0.742236	0.03088|0.03088	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000269383|ENST00000543309	T|.	0.58060|.	0.36|.	5.01|5.01	-5.75|-5.75	0.02384|0.02384	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	1.529570|.	0.04124|.	N|.	0.316712|.	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.04013|.	0.001|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.28530|.	T|.	0.3|.	.|.	3.8188|3.8188	0.08827|0.08827	0.5258:0.2247:0.0839:0.1655|0.5258:0.2247:0.0839:0.1655	.|.	357|.	Q6PJ69|.	TRI65_HUMAN|.	H|I	357|209	ENSP00000269383:R357H|.	ENSP00000269383:R357H|.	R|V	-|-	2|1	0|0	TRIM65|TRIM65	71398939|71398939	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-1.993000|-1.993000	0.01475|0.01475	-0.710000|-0.710000	0.05001|0.05001	-0.127000|-0.127000	0.14921|0.14921	CGT|GTC		0.627	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547	
SMCHD1	23347	broad.mit.edu	37	18	2770043	2770044	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:2770043_2770044delCA	ENST00000320876.6	+	39	5241_5242	c.4903_4904delCA	c.(4903-4905)cagfs	p.Q1635fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.Q1635fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1635					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCAATTATCTCAGTCTATTGTT	0.277																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4903-4905)cagfs		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.																																				SO:0001589	frameshift_variant	23347				chromosome organization		ATP binding	g.chr18:2770043_2770044delCA	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4903_4904delCA	18.37:g.2770043_2770044delCA	ENSP00000326603:p.Gln1635fs					SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	p.Q1635fs	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			38	5092_5093	+			1635					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Frame_Shift_Del	DEL	ENST00000320876.6	37	c.4903_4904delCA	CCDS45822.1																																																																																				0.277	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
ZNF519	162655	broad.mit.edu	37	18	14105942	14105942	+	Silent	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:14105942A>G	ENST00000590202.1	-	3	749	c.597T>C	c.(595-597)ccT>ccC	p.P199P	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	199					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATATTTTCAGGGAAAATAA	0.284																																						uc002kst.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(595-597)ccT>ccC		Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.							45.0	48.0	47.0					18																	14105942		2191	4281	6472	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105942A>G	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.597T>C	18.37:g.14105942A>G						ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	p.P199P	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			2	810	-			199						Silent	SNP	ENST00000590202.1	37	c.597T>C	CCDS32797.1																																																																																				0.284	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287	
ELP2	55250	broad.mit.edu	37	18	33740957	33740957	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:33740957C>G	ENST00000358232.6	+	17	1814	c.1751C>G	c.(1750-1752)tCa>tGa	p.S584*	ELP2_ENST00000542824.1_Nonsense_Mutation_p.S514*|ELP2_ENST00000351393.6_Nonsense_Mutation_p.S558*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000423854.2_Nonsense_Mutation_p.S514*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.S649*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.S579*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	584					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGCTTGCCTCAGCTTGTAAG	0.363																																						uc010xcg.2																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(1945-1947)tCa>tGa		Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.							148.0	143.0	144.0					18																	33740957		2203	4300	6503	SO:0001587	stop_gained	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33740957C>G	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1751C>G	18.37:g.33740957C>G	ENSP00000350967:p.Ser584*					ELP2_uc002kzk.2_Nonsense_Mutation_p.S584*|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Nonsense_Mutation_p.S558*|ELP2_uc010xch.2_Nonsense_Mutation_p.S579*|ELP2_uc002kzn.2_Nonsense_Mutation_p.S514*|ELP2_uc002kzo.2_Nonsense_Mutation_p.S514*	p.S649*	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN			17	2006	+			584					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	ENST00000358232.6	37	c.1946C>G	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	C	40	7.915451	0.98560	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.4516	17.6284	0.88099	0.0:1.0:0.0:0.0	.	.	.	.	X	584;558;649;514;579;514	.	ENSP00000316051:S579X	S	+	2	0	ELP2	31994955	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.677000	0.61634	2.765000	0.95021	0.655000	0.94253	TCA		0.363	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	
RTTN	25914	broad.mit.edu	37	18	67684705	67684705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67684705delG	ENST00000255674.6	-	46	6645	c.6359delC	c.(6358-6360)cctfs	p.P2120fs	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'Flank	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2120					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATAAGAAGAGGCAATAAAGG	0.388																																						uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(6358-6360)cctfs		Homo sapiens rotatin (RTTN), mRNA.							114.0	110.0	111.0					18																	67684705		1895	4120	6015	SO:0001589	frameshift_variant	25914						binding	g.chr18:67684705delG	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6359delC	18.37:g.67684705delG	ENSP00000255674:p.Pro2120fs					RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Frame_Shift_Del_p.P1208fs|RTTN_uc002lkn.2_Frame_Shift_Del_p.P110fs|RTTN_uc010dqp.2_Frame_Shift_Del_p.P372fs	p.P2120fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			45	6427	-		Esophageal squamous(42;0.129)	2120					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Del	DEL	ENST00000255674.6	37	c.6359delC	CCDS42443.1																																																																																				0.388	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
RTTN	25914	broad.mit.edu	37	18	67871471	67871471	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67871471T>C	ENST00000255674.6	-	3	534	c.248A>G	c.(247-249)gAc>gGc	p.D83G	RTTN_ENST00000454359.1_Missense_Mutation_p.D83G|RTTN_ENST00000437017.1_Missense_Mutation_p.D83G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	83					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGCACCAACGTCAACCAAATG	0.388																																						uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(247-249)gAc>gGc		Homo sapiens rotatin (RTTN), mRNA.							106.0	105.0	105.0					18																	67871471		1879	4109	5988	SO:0001583	missense	25914						binding	g.chr18:67871471T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.248A>G	18.37:g.67871471T>C	ENSP00000255674:p.Asp83Gly					RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D83G	p.D83G	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			2	316	-		Esophageal squamous(42;0.129)	83					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.248A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137766	0.37728	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.77229	1.19;-1.08;1.19	5.54	5.54	0.83059	Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	T	0.72087	0.3417	M	0.62723	1.935	0.41815	D	0.989991	B;B	0.18968	0.009;0.032	B;B	0.20767	0.013;0.031	T	0.67385	-0.5684	10	0.28530	T	0.3	.	8.3428	0.32254	0.0:0.1173:0.0:0.8827	.	83;83	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	G	83	ENSP00000255674:D83G;ENSP00000402352:D83G;ENSP00000399520:D83G	ENSP00000255674:D83G	D	-	2	0	RTTN	66022451	1.000000	0.71417	0.995000	0.50966	0.860000	0.49131	4.781000	0.62389	2.107000	0.64212	0.528000	0.53228	GAC		0.388	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
NFATC1	4772	broad.mit.edu	37	18	77246687	77246687	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77246687C>T	ENST00000427363.2	+	9	2532	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000545796.1_Silent_p.P372P|NFATC1_ENST00000329101.4_Silent_p.P831P|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	844	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGCTCTGCCCCAGCAGCCCCT	0.751																																					GBM(151;1210 2593 28719 45011)	uc010xfg.2																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2530-2532)ccC>ccT		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.							20.0	20.0	20.0					18																	77246687		2178	4276	6454	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246687C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2532C>T	18.37:g.77246687C>T						NFATC1_uc002lnd.3_Intron|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Silent_p.P372P|NFATC1_uc002lnf.3_Silent_p.P831P|NFATC1_uc002lng.3_Intron|NFATC1_uc010xfk.2_Intron	p.P844P	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	8	2985	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	844			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2532C>T																																																																																					0.751	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	
PQLC1	80148	broad.mit.edu	37	18	77679330	77679330	+	Silent	SNP	C	C	T	rs372250799	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77679330C>T	ENST00000397778.2	-	5	644	c.462G>A	c.(460-462)acG>acA	p.T154T	PQLC1_ENST00000409073.1_Silent_p.T71T|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Silent_p.T136T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	154						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CCGCCACGCCCGTGAAGGCCA	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20727	0.0		0.0	False		,,,				2504	0.0					uc002lnl.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(460-462)acG>acA		Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.		C	,,	1,4405	2.1+/-5.4	0,1,2202	91.0	73.0	79.0		,408,462	-4.2	0.4	18		79	0,8600		0,0,4300	no	intron,coding-synonymous,coding-synonymous	PQLC1	NM_001146343.1,NM_001146345.1,NM_025078.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,136/254,154/272	77679330	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80148					integral to membrane		g.chr18:77679330C>T	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.462G>A	18.37:g.77679330C>T						PQLC1_uc010dre.2_Silent_p.T71T|PQLC1_uc002lnk.2_Silent_p.T136T|PQLC1_uc010xfm.1_Intron	p.T154T	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	4	634	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	154					B7Z7D9|G5E989|Q9H6D0	Silent	SNP	ENST00000397778.2	37	c.462G>A	CCDS12020.1																																																																																				0.627	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078	
FBN3	84467	broad.mit.edu	37	19	8176044	8176044	+	Missense_Mutation	SNP	C	C	T	rs117092804	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8176044C>T	ENST00000600128.1	-	33	4522	c.4108G>A	c.(4108-4110)Gtg>Atg	p.V1370M	FBN3_ENST00000270509.2_Missense_Mutation_p.V1370M|FBN3_ENST00000601739.1_Missense_Mutation_p.V1370M			Q75N90	FBN3_HUMAN	fibrillin 3	1370	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGTCCACGTTCTCGGCA	0.657													C|||	18	0.00359425	0.0	0.0	5008	,	,		18574	0.0159		0.0	False		,,,				2504	0.002					uc002mjf.3																			0		p.N1369N(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4108-4110)Gtg>Atg		Homo sapiens fibrillin 3 (FBN3), mRNA.							80.0	71.0	74.0					19																	8176044		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176044C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4108G>A	19.37:g.8176044C>T	ENSP00000470498:p.Val1370Met						p.V1370M	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			31	4125	-			1370			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4108G>A	CCDS12196.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	12.24	1.878447	0.33162	.	.	ENSG00000142449	ENST00000270509	D	0.87650	-2.28	3.78	2.66	0.31614	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000001	T	0.65883	0.2734	N	0.12569	0.235	0.46011	D	0.998815	B	0.25743	0.133	B	0.19148	0.024	T	0.61652	-0.7019	10	0.42905	T	0.14	.	7.9165	0.29820	0.0:0.8429:0.0:0.1571	.	1370	Q75N90	FBN3_HUMAN	M	1370	ENSP00000270509:V1370M	ENSP00000270509:V1370M	V	-	1	0	FBN3	8082044	0.895000	0.30542	0.117000	0.21633	0.010000	0.07245	0.740000	0.26188	0.442000	0.26555	0.462000	0.41574	GTG		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
FBN3	84467	broad.mit.edu	37	19	8201272	8201272	+	Splice_Site	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8201272C>T	ENST00000600128.1	-	11	1759	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	FBN3_ENST00000270509.2_Splice_Site_p.D449N|FBN3_ENST00000601739.1_Splice_Site_p.D449N			Q75N90	FBN3_HUMAN	fibrillin 3	449	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCGGCTCACCAATGCACTCG	0.652																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.e10+1		Homo sapiens fibrillin 3 (FBN3), mRNA.							63.0	60.0	61.0					19																	8201272		2203	4300	6503	SO:0001630	splice_region_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201272C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1345+1G>A	19.37:g.8201272C>T							p.D449_splice	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			10	1362	-			449			EGF-like 4; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1345_splice	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.934809	0.73442	.	.	ENSG00000142449	ENST00000270509	D	0.99051	-5.37	4.4	4.4	0.53042	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99013	0.9663	M	0.72479	2.2	0.47737	D	0.999509	D	0.76494	0.999	D	0.64776	0.929	D	0.99391	1.0925	9	.	.	.	.	16.9807	0.86326	0.0:1.0:0.0:0.0	.	449	Q75N90	FBN3_HUMAN	N	449	ENSP00000270509:D449N	.	D	-	1	0	FBN3	8107272	1.000000	0.71417	0.879000	0.34478	0.007000	0.05969	6.931000	0.75863	1.997000	0.58415	0.462000	0.41574	GAT		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	Missense_Mutation
RDH8	50700	broad.mit.edu	37	19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:10131987C>T	ENST00000171214.1	+	5	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V	RDH8_ENST00000591589.1_Missense_Mutation_p.A218V	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	198					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602																																						uc002mmr.3																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(592-594)gCg>gTg		Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	Vitamin A(DB00162)						82.0	78.0	80.0					19																	10131987		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131987C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.593C>T	19.37:g.10131987C>T	ENSP00000171214:p.Ala198Val						p.A198V	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		4	842	+			198					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.593C>T		.	.	.	.	.	.	.	.	.	.	C	14.75	2.627588	0.46944	.	.	ENSG00000080511	ENST00000171214	D	0.93076	-3.16	5.17	1.54	0.23209	NAD(P)-binding domain (1);	0.228496	0.43747	D	0.000533	D	0.87237	0.6127	L	0.38175	1.15	0.29073	N	0.883165	P	0.36315	0.547	B	0.32289	0.143	T	0.82051	-0.0649	10	0.39692	T	0.17	.	12.1111	0.53840	0.4104:0.5896:0.0:0.0	.	198	Q9NYR8	RDH8_HUMAN	V	198	ENSP00000171214:A198V	ENSP00000171214:A198V	A	+	2	0	RDH8	9992987	0.985000	0.35326	0.991000	0.47740	0.910000	0.53928	2.304000	0.43655	1.015000	0.39444	0.462000	0.41574	GCG		0.602	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
OR10H5	284433	broad.mit.edu	37	19	15905052	15905052	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:15905052C>T	ENST00000308940.8	+	1	292	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTCCTGTGTGCCCTCTCCATC	0.627																																						uc010xos.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(193-195)gCc>gTc		Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.							213.0	168.0	183.0					19																	15905052		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905052C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.194C>T	19.37:g.15905052C>T	ENSP00000310704:p.Ala65Val						p.A65V	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			0	194	+			65					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.194C>T	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	0.102	-1.151256	0.01700	.	.	ENSG00000172519	ENST00000308940	T	0.03065	4.06	3.47	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.420009	0.20149	N	0.098205	T	0.01523	0.0049	N	0.02658	-0.545	0.27884	N	0.939569	B	0.06786	0.001	B	0.12156	0.007	T	0.47045	-0.9147	10	0.10902	T	0.67	.	8.9417	0.35733	0.0:0.8832:0.0:0.1168	.	65	Q8NGA6	O10H5_HUMAN	V	65	ENSP00000310704:A65V	ENSP00000310704:A65V	A	+	2	0	OR10H5	15766052	0.026000	0.19158	0.243000	0.24186	0.201000	0.24016	1.199000	0.32235	0.563000	0.29222	0.585000	0.79938	GCC		0.627	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1		
TMEM59L	25789	broad.mit.edu	37	19	18724803	18724803	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:18724803C>T	ENST00000600490.1	+	3	478	c.293C>T	c.(292-294)gCc>gTc	p.A98V	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A98V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	98						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AAGCCCAATGCCACCCAAACT	0.652																																						uc010ebu.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(292-294)gCc>gTc		Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.							43.0	47.0	46.0					19																	18724803		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18724803C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.293C>T	19.37:g.18724803C>T	ENSP00000470879:p.Ala98Val					TMEM59L_uc002njy.4_Missense_Mutation_p.A98V	p.A98V	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			1	380	+			98						Missense_Mutation	SNP	ENST00000600490.1	37	c.293C>T	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186122	0.38609	.	.	ENSG00000105696	ENST00000262817	T	0.47528	0.84	4.54	3.25	0.37280	.	0.109575	0.64402	D	0.000012	T	0.38480	0.1042	L	0.34521	1.04	0.29168	N	0.87729	P	0.40731	0.728	B	0.42692	0.395	T	0.27905	-1.0060	10	0.29301	T	0.29	-26.0221	12.2058	0.54350	0.0:0.8957:0.0:0.1043	.	98	Q9UK28	TM59L_HUMAN	V	98	ENSP00000262817:A98V	ENSP00000262817:A98V	A	+	2	0	TMEM59L	18585803	0.926000	0.31397	1.000000	0.80357	0.935000	0.57460	1.652000	0.37313	2.056000	0.61249	0.561000	0.74099	GCC		0.652	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2		
TSHZ3	57616	broad.mit.edu	37	19	31767776	31767776	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:31767776C>T	ENST00000240587.4	-	2	3250	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	975					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAAAAGAAGACGGGGTGGCCA	0.512																																						uc002nsy.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2923-2925)Gtc>Atc		Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.							71.0	66.0	68.0					19																	31767776		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767776C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2923G>A	19.37:g.31767776C>T	ENSP00000240587:p.Val975Ile						p.V975I	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			1	2988	-	Esophageal squamous(110;0.226)		975					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2923G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485260	0.44147	.	.	ENSG00000121297	ENST00000240587	T	0.13196	2.61	5.84	5.84	0.93424	.	0.059413	0.64402	D	0.000003	T	0.26702	0.0653	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.01124	-1.1444	10	0.23891	T	0.37	-28.9143	20.1434	0.98067	0.0:1.0:0.0:0.0	.	975	Q63HK5	TSH3_HUMAN	I	975	ENSP00000240587:V975I	ENSP00000240587:V975I	V	-	1	0	TSHZ3	36459616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.643000	0.61390	2.760000	0.94817	0.591000	0.81541	GTC		0.512	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
RYR1	6261	broad.mit.edu	37	19	38990563	38990563	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:38990563G>A	ENST00000359596.3	+	45	7230	c.7230G>A	c.(7228-7230)ccG>ccA	p.P2410P	RYR1_ENST00000355481.4_Silent_p.P2410P|RYR1_ENST00000360985.3_Silent_p.P2410P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2410	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGAGGAACCGCCTGAAGAAA	0.632																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7228-7230)ccG>ccA		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						103.0	87.0	92.0					19																	38990563		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990563G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7230G>A	19.37:g.38990563G>A						RYR1_uc002oiu.3_Silent_p.P2410P|RYR1_uc002oiv.1_5'UTR	p.P2410P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7360	+	all_cancers(60;7.91e-06)		2410			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7230G>A	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PVRL2	5819	broad.mit.edu	37	19	45389216	45389216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:45389216delA	ENST00000252483.5	+	7	1219	c.1219delA	c.(1219-1221)aagfs	p.K407fs	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	407					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCTCCTACAAGCCACCAAC	0.602																																						uc002ozw.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1219-1221)aagfs		Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.							81.0	100.0	94.0					19																	45389216		2180	4289	6469	SO:0001589	frameshift_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45389216delA	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1219delA	19.37:g.45389216delA	ENSP00000252483:p.Lys407fs						p.K407fs	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1609	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	407					A8K5L5|O75455|Q6IBI6|Q96J29	Frame_Shift_Del	DEL	ENST00000252483.5	37	c.1219delA	CCDS42576.1																																																																																				0.602	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	
FUT1	2523	broad.mit.edu	37	19	49253750	49253750	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:49253750G>A	ENST00000310160.3	-	4	1763	c.789C>T	c.(787-789)aaC>aaT	p.N263N	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	263					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		ACTCCATGCCGTTGCTGGTGA	0.617																																						uc002pkk.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(787-789)aaC>aaT		Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.							127.0	108.0	114.0					19																	49253750		2203	4300	6503	SO:0001819	synonymous_variant	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253750G>A		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.789C>T	19.37:g.49253750G>A						FUT1_uc021uwy.1_Silent_p.N263N	p.N263N	NM_000148	NP_000139	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	3	1764	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	263					O14505|O14506|O14507	Silent	SNP	ENST00000310160.3	37	c.789C>T	CCDS12733.1																																																																																				0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148	
ZNF528	84436	broad.mit.edu	37	19	52918768	52918768	+	Silent	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:52918768C>G	ENST00000360465.3	+	7	1089	c.663C>G	c.(661-663)gtC>gtG	p.V221V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	221					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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGCAAGGTCTTTAGTTGCA	0.413																																						uc002pzh.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(661-663)gtC>gtG		Homo sapiens zinc finger protein 528 (ZNF528), mRNA.							106.0	99.0	102.0					19																	52918768		2203	4300	6503	SO:0001819	synonymous_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918768C>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.663C>G	19.37:g.52918768C>G						ZNF528_uc002pzi.3_5'UTR	p.V221V	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	6	1089	+			221					B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	c.663C>G	CCDS33091.1																																																																																				0.413	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
KIR3DL1	3811	broad.mit.edu	37	19	55349278	55349278	+	Intron	SNP	C	C	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:55349278C>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTCCTCACTCCCCCTATC	0.512																																						uc002qhm.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(316-318)caC>caA		Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.							356.0	303.0	321.0					19																	55349278		2177	4201	6378	SO:0001627	intron_variant	3809				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55349278C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+12745C>A	19.37:g.55349278C>A						KIR3DL2_uc010yfj.2_Missense_Mutation_p.H99Q|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.H106Q|KIR3DL2_uc002qhn.1_Missense_Mutation_p.H53Q	p.H106Q	NM_012314	NP_036446	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	364	+			201					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.318C>A																																																																																					0.512	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289	
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						uc002qqo.2																			2	Substitution - Missense(2)	p.A337V(4)	prostate(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1009-1011)gCt>gTt		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385748G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.A337V	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1282	-			337					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1010C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF274	10782	broad.mit.edu	37	19	58723892	58723892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:58723892C>T	ENST00000326804.4	+	9	1801	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Nonsense_Mutation_p.R343*|ZNF274_ENST00000345813.3_Nonsense_Mutation_p.R416*	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCTAGAAAACGATTGCGCAA	0.428																																						uc002qrq.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(1342-1344)Cga>Tga		Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.							102.0	101.0	101.0					19																	58723892		2021	4189	6210	SO:0001587	stop_gained	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723892C>T	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1342C>T	19.37:g.58723892C>T	ENSP00000321209:p.Arg448*					ZNF274_uc002qrr.1_Nonsense_Mutation_p.R416*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.R343*|ZNF274_uc010eum.1_Nonsense_Mutation_p.R208*	p.R448*	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	8	1801	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	449					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Nonsense_Mutation	SNP	ENST00000326804.4	37	c.1342C>T		.	.	.	.	.	.	.	.	.	.	C	37	5.982880	0.97173	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	.	.	.	4.55	-5.66	0.02451	.	2.120670	0.02460	N	0.086483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	0.0258	1.0181	0.01512	0.4609:0.1858:0.1265:0.2268	.	.	.	.	X	448;416;343	.	ENSP00000321209:R448X	R	+	1	2	ZNF274	63415704	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.337000	0.07852	-0.574000	0.05990	0.561000	0.74099	CGA		0.428	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502	
NRXN1	9378	broad.mit.edu	37	2	50280492	50280492	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:50280492T>G	ENST00000406316.2	-	20	5431	c.3955A>C	c.(3955-3957)Aca>Cca	p.T1319P	NRXN1_ENST00000342183.5_Missense_Mutation_p.T284P|NRXN1_ENST00000401669.2_Missense_Mutation_p.T1349P|NRXN1_ENST00000401710.1_Missense_Mutation_p.T337P|NRXN1_ENST00000406859.3_Missense_Mutation_p.T1319P|NRXN1_ENST00000402717.3_Missense_Mutation_p.T1341P|NRXN1_ENST00000404971.1_Missense_Mutation_p.T1389P|NRXN1_ENST00000405472.3_Missense_Mutation_p.T1341P	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1319					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAATTGATGTGGACATCTCT	0.502																																						uc021vhh.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3955-3957)Aca>Cca		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							151.0	138.0	142.0					2																	50280492		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50280492T>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3955A>C	2.37:g.50280492T>G	ENSP00000384311:p.Thr1319Pro					NRXN1_uc010fbp.3_Missense_Mutation_p.T284P|NRXN1_uc002rxb.4_Missense_Mutation_p.T1021P|NRXN1_uc021vhg.1_Missense_Mutation_p.T1389P|NRXN1_uc021vhi.1_Missense_Mutation_p.T1385P|NRXN1_uc021vhj.1_Missense_Mutation_p.T1315P	p.T1319P	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		18	4876	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1319					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3955A>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.749655	0.49257	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.74209	0.66;1.94;-0.08;-0.3;-0.82;-0.71;-0.42;-0.43	5.65	5.65	0.86999	.	0.697544	0.11463	U	0.561565	T	0.72700	0.3493	L	0.50333	1.59	0.34967	D	0.75273	B;P;B;B	0.39883	0.002;0.693;0.004;0.418	B;B;B;B	0.38921	0.005;0.275;0.015;0.285	T	0.78229	-0.2285	10	0.52906	T	0.07	.	15.8691	0.79098	0.0:0.0:0.0:1.0	.	1389;284;1319;1341	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	P	284;238;337;1389;1319;1341;1349;1390;1341;1319	ENSP00000341184:T284P;ENSP00000385580:T337P;ENSP00000385142:T1389P;ENSP00000384311:T1319P;ENSP00000434015:T1341P;ENSP00000385017:T1349P;ENSP00000385434:T1341P;ENSP00000385681:T1319P	ENSP00000341184:T284P	T	-	1	0	NRXN1	50133996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.097000	0.71452	2.151000	0.67156	0.533000	0.62120	ACA		0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
LCT	3938	broad.mit.edu	37	2	136594490	136594490	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:136594490T>A	ENST00000264162.2	-	1	260	c.250A>T	c.(250-252)Atc>Ttc	p.I84F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	84					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)			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)	TAATGGGTGATCTGACTGGCA	0.507																																						uc002tuu.1																			0				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						c.(250-252)Atc>Ttc		Homo sapiens lactase (LCT), mRNA.							85.0	85.0	85.0					2																	136594490		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.chr2:136594490T>A	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.250A>T	2.37:g.136594490T>A	ENSP00000264162:p.Ile84Phe						p.I84F	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	0	261	-			84					Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.250A>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	t	11.54	1.668475	0.29604	.	.	ENSG00000115850	ENST00000264162	T	0.27720	1.65	5.83	-5.22	0.02806	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.575191	0.17565	N	0.169667	T	0.29288	0.0729	L	0.28274	0.84	0.22684	N	0.998854	B	0.33318	0.408	B	0.42163	0.378	T	0.30060	-0.9991	10	0.72032	D	0.01	-7.6663	22.0077	0.99965	0.0:0.8753:0.0:0.1247	.	84	P09848	LPH_HUMAN	F	84	ENSP00000264162:I84F	ENSP00000264162:I84F	I	-	1	0	LCT	136310960	0.315000	0.24571	0.015000	0.15790	0.038000	0.13279	0.750000	0.26334	-0.994000	0.03463	-0.922000	0.02736	ATC		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
COBLL1	22837	broad.mit.edu	37	2	165551199	165551199	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:165551199A>T	ENST00000392717.2	-	13	2935	c.2931T>A	c.(2929-2931)aaT>aaA	p.N977K	COBLL1_ENST00000375458.2_Missense_Mutation_p.N901K|COBLL1_ENST00000194871.6_Missense_Mutation_p.N1006K|COBLL1_ENST00000342193.4_Missense_Mutation_p.N939K|COBLL1_ENST00000409184.3_Missense_Mutation_p.N939K			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	977						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCCTCTTTATTTGTCAGTT	0.468																																						uc002ucp.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2815-2817)aaT>aaA		Homo sapiens COBL-like 1 (COBLL1), mRNA.							51.0	52.0	52.0					2																	165551199		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551199A>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2931T>A	2.37:g.165551199A>T	ENSP00000376478:p.Asn977Lys					COBLL1_uc002ucq.3_Missense_Mutation_p.N901K|COBLL1_uc010zcw.2_Missense_Mutation_p.N1006K|COBLL1_uc010zcx.2_Missense_Mutation_p.N947K|COBLL1_uc002ucn.3_Missense_Mutation_p.N367K|COBLL1_uc002uco.3_Missense_Mutation_p.N670K	p.N939K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			11	3039	-			977					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2817T>A		.	.	.	.	.	.	.	.	.	.	A	0.044	-1.273639	0.01421	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	-0.529	0.11901	.	0.747690	0.12754	N	0.441935	T	0.07234	0.0183	N	0.01874	-0.695	0.19775	N	0.999954	B;B	0.15473	0.007;0.013	B;B	0.13407	0.004;0.009	T	0.29610	-1.0006	9	0.05436	T	0.98	0.0091	0.9131	0.01298	0.4855:0.1476:0.1469:0.22	.	977;939	Q53SF7;Q53SF7-2	COBL1_HUMAN;.	K	901;939;939;977;1006	.	ENSP00000194871:N1006K	N	-	3	2	COBLL1	165259445	0.087000	0.21565	0.007000	0.13788	0.025000	0.11179	0.437000	0.21543	-0.321000	0.08627	0.533000	0.62120	AAT		0.468	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
ZC3H15	55854	broad.mit.edu	37	2	187368763	187368763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:187368763G>A	ENST00000337859.6	+	6	766	c.539G>A	c.(538-540)tGc>tAc	p.C180Y	AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000468120.1_3'UTR|ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	180					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CTATAGGTGTGCAAGCATTTC	0.438																																						uc002upo.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(538-540)tGc>tAc		Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.							152.0	142.0	145.0					2																	187368763		1878	4112	5990	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187368763G>A		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.539G>A	2.37:g.187368763G>A	ENSP00000338788:p.Cys180Tyr						p.C180Y	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		5	764	+			180					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.539G>A	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981890	0.93044	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.59638	0.25	5.87	5.87	0.94306	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83505	0.0077	10	0.87932	D	0	-4.3813	20.5827	0.99408	0.0:0.0:1.0:0.0	.	180	Q8WU90	ZC3HF_HUMAN	Y	180	ENSP00000338788:C180Y	ENSP00000338788:C180Y	C	+	2	0	ZC3H15	187077008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGC		0.438	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471	
CCDC150	284992	broad.mit.edu	37	2	197521487	197521487	+	Nonsense_Mutation	SNP	C	C	T	rs200403800		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:197521487C>T	ENST00000389175.4	+	3	442	c.307C>T	c.(307-309)Cga>Tga	p.R103*	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	103										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTGGTAAATCGAATGTGCCG	0.398																																						uc002utp.1																			0		p.R103Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(307-309)Cga>Tga		Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.		C	stop/ARG	1,3681		0,1,1840	119.0	114.0	116.0		307	5.0	1.0	2		116	0,8198		0,0,4099	yes	stop-gained	CCDC150	NM_001080539.1		0,1,5939	TT,TC,CC		0.0,0.0272,0.0084		103/1102	197521487	1,11879	1841	4099	5940	SO:0001587	stop_gained	284992							g.chr2:197521487C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.307C>T	2.37:g.197521487C>T	ENSP00000373827:p.Arg103*					CCDC150_uc002uto.1_Nonsense_Mutation_p.R103*|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.R103*	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			2	442	+			103					Q6P5U6|Q6P663|Q8N8V5	Nonsense_Mutation	SNP	ENST00000389175.4	37	c.307C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	38	6.788010	0.97837	2.72E-4	0.0	ENSG00000144395	ENST00000389175;ENST00000536389	.	.	.	5.03	5.03	0.67393	.	0.087795	0.45606	D	0.000345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.239	17.3013	0.87183	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000373827:R103X	R	+	1	2	CCDC150	197229732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.282000	0.51693	2.632000	0.89209	0.655000	0.94253	CGA		0.398	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
WFDC11	259239	broad.mit.edu	37	20	44278019	44278020	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr20:44278019_44278020TT>AA	ENST00000356562.2	-	4	340_341	c.119_120AA>TT	c.(118-120)gAA>gTT	p.E40V	WFDC11_ENST00000324384.3_Missense_Mutation_p.E40V			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	40						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCCAGCATTCTTCAAGTAACAA	0.391																																						uc002xpa.3																			0				endometrium(1)|lung(4)	5						c.(118-120)gaa>gTT		Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.																																				SO:0001583	missense	259239					extracellular region		g.chr20:44278019_44278020TT>AA	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"""WAP four-disulfide core domain containing"""	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.119_120delinsAA	20.37:g.44278019_44278020delinsAA	ENSP00000348968:p.Glu40Val						p.E40V	NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN			3	314_315	-		Myeloproliferative disorder(115;0.0122)	40					E1P624|Q5TGZ6	Missense_Mutation	DNP	ENST00000356562.2	37	c.119_120AA>TT	CCDS13364.1																																																																																				0.391	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1		
KRTAP6-2	337967	broad.mit.edu	37	21	31971188	31971188	+	Silent	SNP	G	G	A	rs201729927		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:31971188G>A	ENST00000334897.3	-	1	31	c.6C>T	c.(4-6)tgC>tgT	p.C2C	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	2						intermediate filament (GO:0005882)		p.C2C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512													A|||	1	0.000199681	0.0	0.0	5008	,	,		18351	0.001		0.0	False		,,,				2504	0.0					uc011adc.2																			2	Substitution - coding silent(2)	p.C2C(4)	kidney(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(4-6)tgC>tgT		Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.		A		0,4406		0,0,2203	191.0	158.0	169.0		6	3.3	1.0	21		169	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	KRTAP6-2	NM_181604.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2/63	31971188	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	337967					intermediate filament		g.chr21:31971188G>A	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.6C>T	21.37:g.31971188G>A						KRTAP22-1_uc011add.2_5'Flank	p.C2C	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN			0	6	-			2						Silent	SNP	ENST00000334897.3	37	c.6C>T	CCDS13600.1																																																																																				0.512	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3		
RIPPLY3	53820	broad.mit.edu	37	21	38380461	38380461	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:38380461G>A	ENST00000329553.2	+	2	319	c.109G>A	c.(109-111)Gcg>Acg	p.A37T	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	37					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TTCCAGCCCCGCGCCGTGGCG	0.582																																						uc002yvv.3																			0				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(109-111)Gcg>Acg		Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.							48.0	47.0	47.0					21																	38380461		2203	4300	6503	SO:0001583	missense	53820					nucleus		g.chr21:38380461G>A	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.109G>A	21.37:g.38380461G>A	ENSP00000331734:p.Ala37Thr					DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	p.A37T	NM_018962	NP_061835	P57055	DSCR6_HUMAN			1	319	+		Myeloproliferative disorder(46;0.0632)	37						Missense_Mutation	SNP	ENST00000329553.2	37	c.109G>A	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	1.423	-0.572318	0.03882	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.6	-1.28	0.09318	.	0.557684	0.15879	N	0.240136	T	0.12347	0.0300	N	0.02802	-0.49	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.33574	-0.9863	9	0.12430	T	0.62	0.041	8.9943	0.36043	0.4177:0.0:0.5823:0.0	.	37	P57055	DSCR6_HUMAN	T	37	.	ENSP00000331734:A37T	A	+	1	0	DSCR6	37302331	0.003000	0.15002	0.000000	0.03702	0.052000	0.14988	0.616000	0.24344	-0.291000	0.09012	0.561000	0.74099	GCG		0.582	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1		
MCM3AP	8888	broad.mit.edu	37	21	47662773	47662773	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:47662773A>C	ENST00000397708.1	-	26	5623	c.5369T>G	c.(5368-5370)tTg>tGg	p.L1790W	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.L1790W|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1790	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCCCACGACAAAGGAACATC	0.403																																						uc002zir.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5368-5370)tTg>tGg		Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.							123.0	102.0	109.0					21																	47662773		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47662773A>C	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5369T>G	21.37:g.47662773A>C	ENSP00000380820:p.Leu1790Trp					MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.L285W|MCM3AP_uc002zip.1_Missense_Mutation_p.L531W|MCM3AP_uc002ziq.1_Missense_Mutation_p.L717W|MCM3AP-AS1_uc002zis.1_Intron	p.L1790W	NM_003906	NP_003897	O60318	MCM3A_HUMAN			24	5405	-	Breast(49;0.112)		1790					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5369T>G	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457854	0.63401	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03553	3.89;3.89	5.84	3.32	0.38043	.	0.665977	0.15510	N	0.258581	T	0.05960	0.0155	L	0.29908	0.895	0.23282	N	0.997989	D;D	0.63880	0.988;0.993	P;P	0.53360	0.533;0.724	T	0.35500	-0.9786	10	0.45353	T	0.12	-4.8483	8.9032	0.35507	0.7918:0.1361:0.072:0.0	.	1790;285	O60318;B3KT88	MCM3A_HUMAN;.	W	1790;1790;285	ENSP00000380820:L1790W;ENSP00000291688:L1790W	ENSP00000291688:L1790W	L	-	2	0	MCM3AP	46487201	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	1.576000	0.36504	1.033000	0.39918	0.533000	0.62120	TTG		0.403	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
HSCB	150274	broad.mit.edu	37	22	29147228	29147228	+	Splice_Site	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr22:29147228G>A	ENST00000216027.3	+	5	633		c.e5-1		HSCB_ENST00000495977.1_Splice_Site|HSCB_ENST00000398941.2_Splice_Site	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone						iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						TTCTTTTTCAGCTAAACAGAA	0.299																																						uc003aea.3																			0				kidney(1)|lung(2)|skin(1)	4						c.e5-1		Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.							59.0	56.0	57.0					22																	29147228		2201	4298	6499	SO:0001630	splice_region_variant	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29147228G>A	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.569-1G>A	22.37:g.29147228G>A							p.A190_splice	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			5	610	+			190					Q9BWS7	Splice_Site	SNP	ENST00000216027.3	37	c.569_splice	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726304	0.48833	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7638	0.69623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSCB	27477228	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	4.779000	0.62375	2.629000	0.89072	0.563000	0.77884	.		0.299	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002	Intron
NEK10	152110	broad.mit.edu	37	3	27233608	27233608	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:27233608T>G	ENST00000429845.2	-	27	2779	c.2417A>C	c.(2416-2418)gAa>gCa	p.E806A	NEK10_ENST00000295720.6_Missense_Mutation_p.E118A|NEK10_ENST00000383770.3_Missense_Mutation_p.E118A|NEK10_ENST00000357467.2_Missense_Mutation_p.E203A|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.E118A			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	806					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGTTCCCGTTCTAGCTTCTT	0.423																																						uc010hfk.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(352-354)gAa>gCa		Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.							256.0	220.0	232.0					3																	27233608		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27233608T>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2417A>C	3.37:g.27233608T>G	ENSP00000395849:p.Glu806Ala					NEK10_uc003cds.1_Missense_Mutation_p.E203A|NEK10_uc010hfj.3_Missense_Mutation_p.E118A	p.E118A			Q6ZWH5	NEK10_HUMAN			4	582	-			806					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.353A>C		.	.	.	.	.	.	.	.	.	.	T	17.56	3.421258	0.62622	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.48522	0.81;0.81;0.81;1.1	5.91	5.91	0.95273	.	.	.	.	.	T	0.51092	0.1654	.	.	.	0.36992	D	0.894838	P;P;B	0.39903	0.694;0.694;0.376	B;B;B	0.43155	0.41;0.293;0.104	T	0.60919	-0.7167	8	0.56958	D	0.05	.	16.0098	0.80391	0.0:0.0:0.0:1.0	.	118;118;203	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	A	118;118;118;203	ENSP00000295720:E118A;ENSP00000373281:E118A;ENSP00000373280:E118A;ENSP00000350059:E203A	ENSP00000295720:E118A	E	-	2	0	NEK10	27208612	0.999000	0.42202	0.989000	0.46669	0.815000	0.46073	3.370000	0.52372	2.254000	0.74563	0.533000	0.62120	GAA		0.423	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
SLC22A14	9389	broad.mit.edu	37	3	38355344	38355344	+	Silent	SNP	C	C	G	rs553267314		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:38355344C>G	ENST00000273173.4	+	7	1381	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	SLC22A14_ENST00000448498.1_Silent_p.L430L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	430					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCATCTTTCTCCTCCAGCAGA	0.577																																						uc003cib.2																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1288-1290)ctC>ctG		Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.							130.0	132.0	131.0					3																	38355344		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38355344C>G	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1290C>G	3.37:g.38355344C>G						SLC22A14_uc010hhc.1_Silent_p.L430L|SLC22A14_uc011ayo.1_Non-coding_Transcript	p.L430L	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	6	1363	+			430					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1290C>G	CCDS2677.1																																																																																				0.577	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
CDCP1	64866	broad.mit.edu	37	3	45153846	45153846	+	Silent	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:45153846A>G	ENST00000296129.1	-	3	518	c.384T>C	c.(382-384)gaT>gaC	p.D128D	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Silent_p.D128D	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	128						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGCTTTGACATCCCAGATGA	0.527																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(382-384)gaT>gaC		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							169.0	175.0	173.0					3																	45153846		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153846A>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.384T>C	3.37:g.45153846A>G						CDCP1_uc003con.3_Silent_p.D128D	p.D128D	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	519	-			128					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.384T>C	CCDS2727.1																																																																																				0.527	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842	
MYH15	22989	broad.mit.edu	37	3	108179152	108179152	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:108179152G>C	ENST00000273353.3	-	18	2043	c.1987C>G	c.(1987-1989)Cat>Gat	p.H663D	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	663	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTACTTTATGCAGAGATGCA	0.299																																						uc003dxa.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1987-1989)Cat>Gat		Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.							62.0	61.0	62.0					3																	108179152		1824	4069	5893	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108179152G>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1987C>G	3.37:g.108179152G>C	ENSP00000273353:p.His663Asp						p.H663D	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			17	2044	-			663			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1987C>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656112	0.47467	.	.	ENSG00000144821	ENST00000273353	T	0.72167	-0.63	4.01	3.14	0.36123	Myosin head, motor domain (2);	.	.	.	.	D	0.88662	0.6497	H	0.97564	4.03	0.43902	D	0.996539	D	0.89917	1.0	D	0.87578	0.998	D	0.91635	0.5322	9	0.72032	D	0.01	.	12.6714	0.56870	0.082:0.0:0.918:0.0	.	663	Q9Y2K3	MYH15_HUMAN	D	663	ENSP00000273353:H663D	ENSP00000273353:H663D	H	-	1	0	MYH15	109661842	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	3.565000	0.53798	1.279000	0.44446	-0.258000	0.10820	CAT		0.299	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
GOLGB1	2804	broad.mit.edu	37	3	121413693	121413693	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:121413693delG	ENST00000340645.5	-	13	5787	c.5662delC	c.(5662-5664)cagfs	p.Q1888fs	GOLGB1_ENST00000393667.3_Frame_Shift_Del_p.Q1893fs	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1888					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTTCCTCCTGAAGCATTTTT	0.368																																						uc010hrc.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5677-5679)cagfs		Homo sapiens golgin B1 (GOLGB1), mRNA.							159.0	176.0	170.0					3																	121413693		2203	4300	6503	SO:0001589	frameshift_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413693delG	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5662delC	3.37:g.121413693delG	ENSP00000341848:p.Gln1888fs					GOLGB1_uc003eei.4_Frame_Shift_Del_p.Q1888fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.Q1854fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.Q1813fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.Q1774fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.Q1852fs	p.Q1893fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	12	5803	-			1888					B2ZZ91|D3DN92|E7EP74|Q14398	Frame_Shift_Del	DEL	ENST00000340645.5	37	c.5677delC	CCDS3004.1																																																																																				0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
DIRC2	84925	broad.mit.edu	37	3	122514299	122514299	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:122514299G>A	ENST00000261038.5	+	1	658	c.260G>A	c.(259-261)aGc>aAc	p.S87N	HSPBAP1_ENST00000465044.1_5'Flank|HSPBAP1_ENST00000383659.1_5'Flank|HSPBAP1_ENST00000306103.2_5'Flank	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	87					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGCTTCTCCAGCTGGGACATC	0.662																																						uc003efw.4																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(259-261)aGc>aAc		Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.							23.0	24.0	23.0					3																	122514299		2202	4300	6502	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122514299G>A	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.260G>A	3.37:g.122514299G>A	ENSP00000261038:p.Ser87Asn					DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_5'UTR|HSPBAP1_uc003efu.2_5'Flank|HSPBAP1_uc003efv.2_5'Flank	p.S87N	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	0	399	+			87					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.260G>A	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	G	6.693	0.496435	0.12762	.	.	ENSG00000138463	ENST00000261038	T	0.59364	0.27	4.5	4.5	0.54988	Major facilitator superfamily domain, general substrate transporter (1);	0.610624	0.18476	N	0.140075	T	0.40956	0.1138	N	0.19112	0.55	0.26549	N	0.97394	B	0.17038	0.02	B	0.15052	0.012	T	0.10823	-1.0613	10	0.13470	T	0.59	.	14.5196	0.67842	0.0:0.0:1.0:0.0	.	87	Q96SL1	DIRC2_HUMAN	N	87	ENSP00000261038:S87N	ENSP00000261038:S87N	S	+	2	0	DIRC2	123996989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.196000	0.51020	2.313000	0.78055	0.455000	0.32223	AGC		0.662	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839	
SERP1	27230	broad.mit.edu	37	3	150321196	150321196	+	5'Flank	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:150321196G>A	ENST00000479209.1	-	0	0				SELT_ENST00000485923.1_5'UTR|SERP1_ENST00000490945.1_5'Flank|SELT_ENST00000471696.1_Missense_Mutation_p.R16Q|SELT_ENST00000477889.1_5'UTR|SELT_ENST00000480740.1_Intron			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGATGGTCCGGAGCGAGGCC	0.597																																						uc021xfp.1																			0											c.(46-48)cGg>cAg		Homo sapiens selenoprotein T (SELT), mRNA.							18.0	22.0	21.0					3																	150321196		1981	4157	6138	SO:0001631	upstream_gene_variant	51714				cell redox homeostasis|selenocysteine incorporation		selenium binding	g.chr3:150321196G>A	AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769		3.37:g.150321196G>A	Exception_encountered					SERP1_uc003exz.3_5'Flank|BC039424_uc003eye.2_5'Flank	p.R16Q	NM_016275		P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		0	131	+			16	RSE -> WSD (in Ref. 4; AAH09611).				D3DNI6	Missense_Mutation	SNP	ENST00000479209.1	37	c.47G>A	CCDS3150.1	.	.	.	.	.	.	.	.	.	.	g	14.24	2.477638	0.44044	.	.	ENSG00000198843	ENST00000471696	.	.	.	4.81	2.98	0.34508	.	0.531607	0.18884	N	0.128499	T	0.26666	0.0652	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05683	-1.0870	9	0.27785	T	0.31	-5.2969	5.0267	0.14389	0.1871:0.0:0.6423:0.1706	.	16	P62341	SELT_HUMAN	Q	16	.	ENSP00000418910:R16Q	R	+	2	0	RP11-392O18.1	151803886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.550000	0.36223	1.148000	0.42385	0.651000	0.88453	CGG		0.597	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357239.1	NM_014445	
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Start_Codon_SNP	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:178916614A>G	ENST00000263967.3	+	2	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCAGAACAATGCCTCCACG	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.M1V(3)	endometrium(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1-3)Atg>Gtg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							45.0	45.0	45.0					3																	178916614		1872	4093	5965	SO:0001582	initiator_codon_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916614A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1A>G	3.37:g.178916614A>G	ENSP00000263967:p.Met1Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	158	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823904	0.71143	.	.	ENSG00000121879	ENST00000477735;ENST00000263967;ENST00000468036	T;T	0.73047	-0.61;-0.71	5.37	5.37	0.77165	.	0.040256	0.85682	D	0.000000	T	0.64681	0.2620	.	.	.	0.50171	D	0.99985	B	0.30193	0.272	B	0.24006	0.05	T	0.66826	-0.5825	9	0.87932	D	0	-8.6712	15.3677	0.74535	1.0:0.0:0.0:0.0	.	1	P42336	PK3CA_HUMAN	V	1	ENSP00000263967:M1V;ENSP00000417479:M1V	ENSP00000263967:M1V	M	+	1	0	PIK3CA	180399308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.899000	0.92544	2.027000	0.59764	0.528000	0.53228	ATG		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation
MFSD7	84179	broad.mit.edu	37	4	680439	680439	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:680439T>C	ENST00000404286.2	-	2	191	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MFSD7_ENST00000503156.1_5'UTR|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000322224.4_Missense_Mutation_p.E59G|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000515118.1_Missense_Mutation_p.E59G	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GACCAAGTCCTCAGCAATGAC	0.622																																						uc003gay.3																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(175-177)gAg>gGg		Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.							116.0	100.0	106.0					4																	680439		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680439T>C	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.176A>G	4.37:g.680439T>C	ENSP00000384616:p.Glu59Gly					MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.E59G|MFSD7_uc003gaz.3_Intron	p.E59G	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			1	233	-			59					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.176A>G		.	.	.	.	.	.	.	.	.	.	T	9.301	1.052984	0.19907	.	.	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000515118;ENST00000512249	T;T;D;T	0.95447	0.24;0.24;-3.71;0.22	4.62	-2.66	0.06077	Major facilitator superfamily domain, general substrate transporter (1);	1.191370	0.05743	N	0.601705	D	0.90051	0.6893	L	0.35542	1.07	0.20196	N	0.999922	B;P;P	0.45715	0.278;0.664;0.865	B;B;B	0.40329	0.063;0.326;0.23	T	0.83148	-0.0105	9	.	.	.	-2.1732	4.4561	0.11643	0.0:0.2794:0.3235:0.3971	.	59;59;59	D6R9R0;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	G	59	ENSP00000320234:E59G;ENSP00000384616:E59G;ENSP00000423204:E59G;ENSP00000425038:E59G	.	E	-	2	0	MFSD7	670439	0.163000	0.22920	0.007000	0.13788	0.017000	0.09413	1.215000	0.32431	-0.637000	0.05516	0.379000	0.24179	GAG		0.622	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219	
DRD5	1816	broad.mit.edu	37	4	9784960	9784960	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:9784960G>A	ENST00000304374.2	+	1	1703	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	436					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCTTTCGATCGCATGTTCCAG	0.552																																						uc003gmb.4																			0		p.R436S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1306-1308)cGc>cAc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						73.0	66.0	69.0					4																	9784960		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784960G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1307G>A	4.37:g.9784960G>A	ENSP00000306129:p.Arg436His						p.R436H	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1703	+			436					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1307G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	2.231	-0.376081	0.05034	.	.	ENSG00000169676	ENST00000304374	T	0.66638	-0.22	4.53	-0.289	0.12851	.	0.584500	0.15361	N	0.266384	T	0.48607	0.1509	L	0.38531	1.155	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.29058	-1.0024	10	0.39692	T	0.17	.	4.3716	0.11251	0.412:0.0:0.4393:0.1487	.	436	P21918	DRD5_HUMAN	H	436	ENSP00000306129:R436H	ENSP00000306129:R436H	R	+	2	0	DRD5	9394058	0.021000	0.18746	0.000000	0.03702	0.035000	0.12851	0.577000	0.23758	-0.319000	0.08652	0.460000	0.39030	CGC		0.552	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
UGT2A1	10941	broad.mit.edu	37	4	70513056	70513056	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:70513056T>C	ENST00000503640.1	-	1	362	c.307A>G	c.(307-309)Acc>Gcc	p.T103A	UGT2A1_ENST00000512704.1_Missense_Mutation_p.T103A|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T103A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T103A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	103					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTCCAAATGGTTGAAGGAGAT	0.408																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(307-309)Acc>Gcc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							88.0	82.0	84.0					4																	70513056		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70513056T>C	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.307A>G	4.37:g.70513056T>C	ENSP00000424478:p.Thr103Ala					UGT2A1_uc010ihu.3_Missense_Mutation_p.T103A|UGT2A1_uc003hem.4_Missense_Mutation_p.T103A|UGT2A1_uc010iht.3_Missense_Mutation_p.T103A	p.T103A	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			1	423	-			103					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.307A>G	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233105	0.39498	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.61274	0.25;0.12;0.25;0.25;0.25	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000059	T	0.64983	0.2648	L	0.38692	1.165	.	.	.	D;B;D;P	0.76494	0.997;0.27;0.999;0.911	D;B;D;P	0.83275	0.975;0.192;0.996;0.621	T	0.66803	-0.5831	9	0.25106	T	0.35	.	12.495	0.55923	0.0:0.0:0.0:1.0	.	103;103;103;103	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	A	103	ENSP00000424478:T103A;ENSP00000421432:T103A;ENSP00000425497:T103A;ENSP00000286604:T103A;ENSP00000427709:T103A	ENSP00000286604:T103A	T	-	1	0	UGT2A1	70547645	0.998000	0.40836	0.984000	0.44739	0.981000	0.71138	2.674000	0.46867	2.215000	0.71742	0.482000	0.46254	ACC		0.408	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
EGF	1950	broad.mit.edu	37	4	110883096	110883096	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:110883096T>A	ENST00000265171.5	+	8	1712	c.1267T>A	c.(1267-1269)Tgt>Agt	p.C423S	EGF_ENST00000503392.1_Missense_Mutation_p.C423S|EGF_ENST00000509793.1_Missense_Mutation_p.C381S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	423	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTTATGTTTCTGTCCTGAAGG	0.393																																						uc003hzy.4																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1267-1269)Tgt>Agt		Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	Sulindac(DB00605)						236.0	240.0	239.0					4																	110883096		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110883096T>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1267T>A	4.37:g.110883096T>A	ENSP00000265171:p.Cys423Ser					EGF_uc011cfu.2_Missense_Mutation_p.C381S|EGF_uc011cfv.2_Missense_Mutation_p.C423S	p.C423S	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	7	1719	+		Hepatocellular(203;0.0893)	423			EGF-like 3.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1267T>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284417	0.80803	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.97731	-4.51;-4.51;-4.51	5.22	5.22	0.72569	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99663	1.0994	10	0.87932	D	0	.	14.7962	0.69878	0.0:0.0:0.0:1.0	.	423;381;423	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	S	381;423;423	ENSP00000424316:C381S;ENSP00000265171:C423S;ENSP00000421384:C423S	ENSP00000265171:C423S	C	+	1	0	EGF	111102545	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.493000	0.60341	1.974000	0.57490	0.533000	0.62120	TGT		0.393	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
PDZD2	23037	broad.mit.edu	37	5	32074373	32074381	+	In_Frame_Del	DEL	CCTATGCAG	CCTATGCAG	-	rs373139089		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:32074373_32074381delCCTATGCAG	ENST00000438447.1	+	18	3549_3557	c.3161_3169delCCTATGCAG	c.(3160-3171)tcctatgcagcc>tcc	p.YAA1055del	PDZD2_ENST00000282493.3_In_Frame_Del_p.YAA1055del			O15018	PDZD2_HUMAN	PDZ domain containing 2	1055					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATGCTGCGTCCTATGCAGCCAACCTCAC	0.569																																						uc003jhl.3																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3160-3171)tcctatgcagcc>tcc		Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074373_32074381delCCTATGCAG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3161_3169delCCTATGCAG	5.37:g.32074373_32074381delCCTATGCAG	ENSP00000402033:p.Tyr1055_Ala1057del					PDZD2_uc003jhm.3_In_Frame_Del_p.YAA1055del|PDZD2_uc011cnx.1_In_Frame_Del_p.YAA881del	p.YAA1055del	NM_178140	NP_835260	O15018	PDZD2_HUMAN			17	3549_3557	+			1055					Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.3161_3169delCCTATGCAG	CCDS34137.1																																																																																				0.569	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
ADAMTS12	81792	broad.mit.edu	37	5	33751608	33751608	+	Missense_Mutation	SNP	C	C	T	rs374678857		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:33751608C>T	ENST00000504830.1	-	3	870	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.V179M|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V179M|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	179					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTTCTTCACGGGTTCAATG	0.423										HNSCC(64;0.19)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17287	0.001		0.0	False		,,,				2504	0.0					uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(535-537)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							130.0	130.0	130.0					5																	33751608		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33751608C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.535G>A	5.37:g.33751608C>T	ENSP00000422554:p.Val179Met	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179M|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179M	p.V179M	NM_030955	NP_112217	P58397	ATS12_HUMAN			2	698	-			179					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.535G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134372	0.56828	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.06687	3.27;3.27;3.27	5.8	4.04	0.47022	Peptidase M12B, propeptide (1);	0.218004	0.37304	N	0.002150	T	0.17152	0.0412	L	0.52011	1.625	0.28307	N	0.922834	D;D;P	0.61697	0.987;0.99;0.901	P;P;P	0.59643	0.855;0.861;0.594	T	0.02275	-1.1184	10	0.72032	D	0.01	.	8.7016	0.34329	0.0:0.8278:0.0:0.1722	.	179;179;179	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	M	179	ENSP00000422554:V179M;ENSP00000344847:V179M;ENSP00000421638:V179M	ENSP00000344847:V179M	V	-	1	0	ADAMTS12	33787365	0.997000	0.39634	0.995000	0.50966	0.500000	0.33767	0.919000	0.28692	0.817000	0.34445	0.563000	0.77884	GTG		0.423	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ACSL6	23305	broad.mit.edu	37	5	131296260	131296260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:131296260G>A	ENST00000379240.1	-	19	1990	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	ACSL6_ENST00000543479.1_Nonsense_Mutation_p.Q613*|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.Q613*|ACSL6_ENST00000544770.1_Nonsense_Mutation_p.Q522*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.Q624*|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.Q613*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.Q628*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.Q593*|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.Q538*|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.Q538*|ACSL6_ENST00000379264.2_Nonsense_Mutation_p.Q638*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.Q638*			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	613					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTCTTCTGGGCCCAGGAG	0.458																																						uc003kvx.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1912-1914)Cag>Tag		Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.							146.0	135.0	138.0					5																	131296260		2203	4300	6503	SO:0001587	stop_gained	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131296260G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1837C>T	5.37:g.131296260G>A	ENSP00000368542:p.Gln613*					ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Nonsense_Mutation_p.Q603*|ACSL6_uc003kvy.2_Nonsense_Mutation_p.Q638*|ACSL6_uc003kvz.2_Nonsense_Mutation_p.Q538*|ACSL6_uc021ydh.1_Nonsense_Mutation_p.Q538*|ACSL6_uc010jdo.2_Nonsense_Mutation_p.Q613*|ACSL6_uc003kwa.2_Nonsense_Mutation_p.Q624*|ACSL6_uc003kvw.2_Nonsense_Mutation_p.Q259*|ACSL6_uc010jdn.2_Nonsense_Mutation_p.Q628*	p.Q638*	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	2021	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	613					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Nonsense_Mutation	SNP	ENST00000379240.1	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.759542	0.98474	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	.	.	.	5.81	4.87	0.63330	.	0.249049	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4916	0.50383	0.0:0.0:0.612:0.388	.	.	.	.	X	613;638;628;538;538;638;624;613;522;613;593;613	.	ENSP00000296869:Q638X	Q	-	1	0	ACSL6	131324159	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.648000	0.61425	2.741000	0.93983	0.655000	0.94253	CAG		0.458	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256	
CSF1R	1436	broad.mit.edu	37	5	149456956	149456956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:149456956delG	ENST00000286301.3	-	6	1063	c.772delC	c.(772-774)caafs	p.Q258fs	CSF1R_ENST00000543093.1_Frame_Shift_Del_p.Q258fs	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	258	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGACTTTTTGGTAACGGTTA	0.478																																						uc003lrl.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(772-774)caafs		Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	Imatinib(DB00619)|Sunitinib(DB01268)						278.0	258.0	265.0					5																	149456956		2203	4300	6503	SO:0001589	frameshift_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149456956delG	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.772delC	5.37:g.149456956delG	ENSP00000286301:p.Gln258fs					CSF1R_uc011dcd.2_Frame_Shift_Del_p.Q110fs|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dcf.2_Frame_Shift_Del_p.Q258fs	p.Q258fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	967	-			258			Ig-like C2-type 3.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Frame_Shift_Del	DEL	ENST00000286301.3	37	c.772delC	CCDS4302.1																																																																																				0.478	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
FABP6	2172	broad.mit.edu	37	5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:159656578G>A	ENST00000402432.3	+	1	142	c.14G>A	c.(13-15)gGc>gAc	p.G5D	FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000393980.4_Missense_Mutation_p.G54D	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537																																					Colon(29;562 677 12756 16385 20992)	uc003lya.1																			2	Substitution - Missense(2)	p.G5D(2)|p.G54D(1)	kidney(2)	breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(13-15)gGc>gAc		Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.							173.0	162.0	166.0					5																	159656578		2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159656578G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.14G>A	5.37:g.159656578G>A	ENSP00000385433:p.Gly5Asp					FABP6_uc003lxx.1_Missense_Mutation_p.G54D|FABP6_uc003lxz.1_Missense_Mutation_p.G54D	p.G5D	NM_001445	NP_001436	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		0	142	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	5					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.14G>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429828	0.83776	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.75938	-0.98;-0.98;-0.98	5.41	5.41	0.78517	Calycin-like (1);Cytosolic fatty-acid binding (2);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89944	0.4075	10	0.87932	D	0	-13.8827	16.6824	0.85296	0.0:0.0:1.0:0.0	.	5;54	P51161;P51161-2	FABP6_HUMAN;.	D	54;54;5	ENSP00000377549:G54D;ENSP00000377551:G54D;ENSP00000385433:G5D	ENSP00000377549:G54D	G	+	2	0	FABP6	159589156	1.000000	0.71417	0.910000	0.35882	0.821000	0.46438	7.492000	0.81482	2.520000	0.84964	0.561000	0.74099	GGC		0.537	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442	
PGBD1	84547	broad.mit.edu	37	6	28269185	28269186	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:28269185_28269186GT>TA	ENST00000405948.2	+	7	1974_1975	c.1554_1555GT>TA	c.(1552-1557)aaGTtt>aaTAtt	p.518_519KF>NI	PGBD1_ENST00000259883.3_Missense_Mutation_p.518_519KF>NI	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	518						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAAAGATAAGTTTACAAAGTT	0.356																																						uc003nky.3																			0		p.D517N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1552-1557)aagttt>aaTAtt		Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.																																				SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269185_28269186GT>TA	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	Exception_encountered	6.37:g.28269185_28269186delinsTA	ENSP00000385213:p.K518_F519delinsNI					PGBD1_uc003nkz.3_Missense_Mutation_p.518_519KF>NI	p.518_519KF>NI	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			6	1974_1975	+			518					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	DNP	ENST00000405948.2	37	c.1554_1555GT>TA	CCDS4648.1																																																																																				0.356	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
TRIM10	10107	broad.mit.edu	37	6	30126240	30126240	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:30126240C>T	ENST00000449742.2	-	3	767	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	TRIM10_ENST00000376704.3_Missense_Mutation_p.R231Q	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	231					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AGCACTAAACCGGCAGATCTC	0.542																																						uc003npo.3																			0				ovary(1)	1						c.(691-693)cGg>cAg		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							253.0	282.0	271.0					6																	30126240		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30126240C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.692G>A	6.37:g.30126240C>T	ENSP00000397073:p.Arg231Gln					TRIM10_uc003npn.2_Missense_Mutation_p.R231Q	p.R231Q	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			2	768	-			231					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.692G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659122	0.47467	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.05139	3.49;3.49	5.68	4.81	0.61882	.	0.000000	0.49305	D	0.000141	T	0.08935	0.0221	L	0.58428	1.81	0.31834	N	0.624342	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.13737	-1.0498	10	0.21014	T	0.42	.	10.5158	0.44889	0.0:0.9112:0.0:0.0888	.	231;231	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	Q	231	ENSP00000397073:R231Q;ENSP00000365894:R231Q	ENSP00000365894:R231Q	R	-	2	0	TRIM10	30234219	0.000000	0.05858	0.996000	0.52242	0.026000	0.11368	-0.113000	0.10774	1.408000	0.46895	0.643000	0.83706	CGG		0.542	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
VWA7	80737	broad.mit.edu	37	6	31742303	31742303	+	Silent	SNP	C	C	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:31742303C>A	ENST00000375688.4	-	5	911	c.711G>T	c.(709-711)ccG>ccT	p.P237P	VWA7_ENST00000447450.1_Silent_p.P237P|VWA7_ENST00000375686.3_Silent_p.P237P|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	237						extracellular region (GO:0005576)											CTGGAGGTTTCGGGGGATGAG	0.542																																						uc011dog.2																			0											c.(709-711)ccG>ccT		Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.							86.0	81.0	83.0					6																	31742303		1509	2709	4218	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31742303C>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.711G>T	6.37:g.31742303C>A						VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	p.P237P	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			4	949	-			237					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.711G>T	CCDS4721.2																																																																																				0.542	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
TAP2	6891	broad.mit.edu	37	6	32797852	32797852	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:32797852C>T	ENST00000452392.2	-	10	1823	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374897.2_Silent_p.G550G|TAP2_ENST00000374899.4_Silent_p.G550G			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CAGGCTCCTGCCCAACTGAAA	0.587																																						uc011dqf.1																			0											c.(1648-1650)ggG>ggA		Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.							90.0	93.0	92.0					6																	32797852		1508	2709	4217	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32797852C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1650G>A	6.37:g.32797852C>T						TAP2_uc003ocb.1_Silent_p.G550G|TAP2_uc003occ.3_Silent_p.G550G|TAP2_uc003ocd.3_Silent_p.G550G	p.G550G	NM_018833	NP_061313	Q03519	TAP2_HUMAN			9	1772	-			550			ABC transporter.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.1650G>A																																																																																					0.587	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544	
CRISP3	10321	broad.mit.edu	37	6	49700907	49700907	+	Splice_Site	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:49700907C>T	ENST00000393666.1	-	5	528		c.e5+1		CRISP3_ENST00000433368.2_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Splice_Site|CRISP3_ENST00000371159.4_Splice_Site			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATATACTTACGCAGGACAAT	0.299																																						uc021zai.1																			2	Unknown(2)	p.?(2)	lung(1)|kidney(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.e6+1		Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.							103.0	107.0	106.0					6																	49700907		2203	4298	6501	SO:0001630	splice_region_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49700907C>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.521+1G>A	6.37:g.49700907C>T						CRISP3_uc003ozs.3_Splice_Site_p.A187_splice	p.A197_splice	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	678	-	Lung NSC(77;0.0161)		174					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Splice_Site	SNP	ENST00000393666.1	37	c.590_splice		.	.	.	.	.	.	.	.	.	.	C	15.20	2.763998	0.49574	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3304	0.66553	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP3	49808866	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	3.148000	0.50647	2.526000	0.85167	0.561000	0.74099	.		0.299	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	Intron
NT5E	4907	broad.mit.edu	37	6	86203692	86203692	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:86203692T>C	ENST00000257770.3	+	9	1744	c.1695T>C	c.(1693-1695)ctT>ctC	p.L565L	NT5E_ENST00000369651.3_Silent_p.L515L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	565					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTCTTTCACTTTGGGCAGTGA	0.358																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1693-1695)ctT>ctC		Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	Pentoxifylline(DB00806)						68.0	73.0	71.0					6																	86203692		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86203692T>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1695T>C	6.37:g.86203692T>C						NT5E_uc010kbr.3_Silent_p.L515L	p.L565L	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	8	2251	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	565					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.1695T>C	CCDS5002.1																																																																																				0.358	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1		
MAP3K5	4217	broad.mit.edu	37	6	137041637	137041637	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:137041637T>C	ENST00000359015.4	-	2	899	c.539A>G	c.(538-540)aAc>aGc	p.N180S		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	180					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGATGATGTTGTTGGCCAT	0.473																																						uc003qhc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(538-540)aAc>aGc		Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.							224.0	184.0	198.0					6																	137041637		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137041637T>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.539A>G	6.37:g.137041637T>C	ENSP00000351908:p.Asn180Ser					MAP3K5_uc011edk.1_Missense_Mutation_p.N25S|MAP3K5_uc010kgw.1_Missense_Mutation_p.N180S	p.N180S	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	1	900	-	Colorectal(23;0.24)		180					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.539A>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.825311	0.90955	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.13657	2.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.992	T	0.25467	-1.0131	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	260;25;180	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	S	180;260	ENSP00000351908:N180S	ENSP00000351908:N180S	N	-	2	0	MAP3K5	137083330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.270000	0.75569	0.482000	0.46254	AAC		0.473	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
GLI3	2737	broad.mit.edu	37	7	42005081	42005081	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:42005081A>G	ENST00000395925.3	-	15	3674	c.3590T>C	c.(3589-3591)aTg>aCg	p.M1197T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1197					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGGACGACCATGCCGTTGCA	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.2																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3589-3591)aTg>aCg		Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.							58.0	69.0	65.0					7																	42005081		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005081A>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3590T>C	7.37:g.42005081A>G	ENSP00000379258:p.Met1197Thr					GLI3_uc011kbg.2_Missense_Mutation_p.M1138T	p.M1197T	NM_000168	NP_000159	P10071	GLI3_HUMAN			14	3681	-			1197					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3590T>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584797	0.28268	.	.	ENSG00000106571	ENST00000395925	T	0.14391	2.51	5.57	1.76	0.24704	.	0.459579	0.29172	N	0.012921	T	0.05686	0.0149	N	0.08118	0	0.45108	D	0.998122	B	0.02656	0.0	B	0.04013	0.001	T	0.40590	-0.9555	10	0.19590	T	0.45	.	7.0255	0.24938	0.7418:0.1252:0.133:0.0	.	1197	P10071	GLI3_HUMAN	T	1197	ENSP00000379258:M1197T	ENSP00000379258:M1197T	M	-	2	0	GLI3	41971606	0.800000	0.28916	0.001000	0.08648	0.014000	0.08584	1.774000	0.38573	0.054000	0.16065	0.460000	0.39030	ATG		0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
LMTK2	22853	broad.mit.edu	37	7	97822800	97822800	+	Missense_Mutation	SNP	C	C	T	rs199974736	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:97822800C>T	ENST00000297293.5	+	11	3316	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1008					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTCCACGAAGCGCTACTGGAC	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		16085	0.0		0.0	False		,,,				2504	0.002					uc003upd.2																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3022-3024)gCg>gTg		Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.							99.0	107.0	104.0					7																	97822800		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822800C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3023C>T	7.37:g.97822800C>T	ENSP00000297293:p.Ala1008Val						p.A1008V	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			10	3316	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1008					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3023C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	3.684	-0.064859	0.07273	.	.	ENSG00000164715	ENST00000297293	T	0.75589	-0.95	5.03	-0.984	0.10259	.	0.580697	0.17462	N	0.173418	T	0.52757	0.1754	N	0.17674	0.51	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32134	-0.9918	10	0.17832	T	0.49	.	9.1738	0.37098	0.0:0.4412:0.0:0.5588	.	1008	Q8IWU2	LMTK2_HUMAN	V	1008	ENSP00000297293:A1008V	ENSP00000297293:A1008V	A	+	2	0	LMTK2	97660736	0.636000	0.27207	0.000000	0.03702	0.010000	0.07245	1.140000	0.31516	-0.343000	0.08351	-0.142000	0.14014	GCG		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
LAMB1	3912	broad.mit.edu	37	7	107566693	107566693	+	Missense_Mutation	SNP	C	C	A	rs143093758		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107566693C>A	ENST00000222399.6	-	32	5229	c.4999G>T	c.(4999-5001)Ggg>Tgg	p.G1667W	LAMB1_ENST00000393561.1_Missense_Mutation_p.G1691W	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1667	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCTGCCTCCCCGGAGTTTTGG	0.428																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(5071-5073)Ggg>Tgg		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	117.0	119.0					7																	107566693		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107566693C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4999G>T	7.37:g.107566693C>A	ENSP00000222399:p.Gly1667Trp					LAMB1_uc003vew.2_Missense_Mutation_p.G1667W	p.G1691W	NM_002291	NP_002282	P07942	LAMB1_HUMAN			29	5232	-			1667			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.5071G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635448	0.67130	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32515	1.45;1.45	5.83	4.9	0.64082	.	.	.	.	.	T	0.30293	0.0760	N	0.22421	0.69	0.35297	D	0.782666	P;D;P	0.61697	0.841;0.99;0.841	P;P;P	0.49387	0.473;0.609;0.473	T	0.37911	-0.9685	9	0.66056	D	0.02	.	14.9409	0.70992	0.0:0.739:0.261:0.0	.	1667;1691;964	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	W	1691;1667	ENSP00000377191:G1691W;ENSP00000222399:G1667W	ENSP00000222399:G1667W	G	-	1	0	LAMB1	107353929	0.001000	0.12720	0.918000	0.36340	0.990000	0.78478	0.319000	0.19522	2.749000	0.94314	0.650000	0.86243	GGG		0.428	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
LAMB4	22798	broad.mit.edu	37	7	107703420	107703420	+	Silent	SNP	G	G	A	rs144037364		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107703420G>A	ENST00000388781.3	-	23	3164	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	LAMB4_ENST00000388780.3_Silent_p.S1027S|LAMB4_ENST00000205386.4_Silent_p.S1027S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1027	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GACTCACGCCGGAAGCATGGC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21793	0.0		0.0	False		,,,				2504	0.0					uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3079-3081)tcC>tcT		Homo sapiens laminin, beta 4 (LAMB4), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	47.0	44.0	45.0		3081	-10.2	0.0	7	dbSNP_134	45	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous	LAMB4	NM_007356.2		0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769		1027/1762	107703420	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107703420G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3081C>T	7.37:g.107703420G>A						LAMB4_uc003vey.2_Silent_p.S1027S|LAMB4_uc010ljp.1_5'UTR	p.S1027S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			22	3165	-			1027			Laminin EGF-like 11.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.3081C>T	CCDS34732.1																																																																																				0.517	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
MET	4233	broad.mit.edu	37	7	116340174	116340174	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340174T>C	ENST00000318493.6	+	2	1223	c.1036T>C	c.(1036-1038)Ttc>Ctc	p.F346L	MET_ENST00000436117.2_Missense_Mutation_p.F346L|MET_ENST00000397752.3_Missense_Mutation_p.F346L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCGGGGTGTTCGCACAAAG	0.468			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1036-1038)Ttc>Ctc		Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.							63.0	61.0	61.0					7																	116340174		1953	4142	6095	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340174T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1036T>C	7.37:g.116340174T>C	ENSP00000317272:p.Phe346Leu					MET_uc022akk.1_Missense_Mutation_p.F346L|MET_uc010lkh.3_Missense_Mutation_p.F346L|MET_uc011knc.1_Missense_Mutation_p.F346L|MET_uc011knd.2_Missense_Mutation_p.F346L|MET_uc011knf.2_Missense_Mutation_p.F346L|MET_uc011kne.2_Missense_Mutation_p.F346L|MET_uc011kng.1_Missense_Mutation_p.F346L|MET_uc011knh.1_Missense_Mutation_p.F346L|MET_uc011kni.2_Missense_Mutation_p.F346L|MET_uc003vii.1_Missense_Mutation_p.F365L|MET_uc010lkg.3_Missense_Mutation_p.F346L|MET_uc011kmz.1_Missense_Mutation_p.F346L|MET_uc011kna.1_Missense_Mutation_p.F346L|MET_uc011knb.1_Missense_Mutation_p.F346L	p.F346L	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		1	1223	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	346			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1036T>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431556	0.83776	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.22743	1.94;1.94;1.94	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.996;0.996	T	0.68667	-0.5348	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	346;346;346;346;346;346;346;346;346;346;346;346;346	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	346	ENSP00000380860:F346L;ENSP00000317272:F346L;ENSP00000410980:F346L	ENSP00000317272:F346L	F	+	1	0	MET	116127410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.636000	0.83301	2.317000	0.78254	0.460000	0.39030	TTC		0.468	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
MET	4233	broad.mit.edu	37	7	116340270	116340270	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340270G>A	ENST00000318493.6	+	2	1319	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	MET_ENST00000436117.2_Missense_Mutation_p.V378I|MET_ENST00000397752.3_Missense_Mutation_p.V378I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAACAAGATCGTCAACAAAAA	0.433			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1132-1134)Gtc>Atc		Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.							104.0	96.0	99.0					7																	116340270		1925	4140	6065	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340270G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1132G>A	7.37:g.116340270G>A	ENSP00000317272:p.Val378Ile					MET_uc022akk.1_Missense_Mutation_p.V378I|MET_uc010lkh.3_Missense_Mutation_p.V378I|MET_uc011knc.1_Missense_Mutation_p.V378I|MET_uc011knd.2_Missense_Mutation_p.V378I|MET_uc011knf.2_Missense_Mutation_p.V378I|MET_uc011kne.2_Missense_Mutation_p.V378I|MET_uc011kng.1_Missense_Mutation_p.V378I|MET_uc011knh.1_Missense_Mutation_p.V378I|MET_uc011kni.2_Missense_Mutation_p.V378I|MET_uc003vii.1_Missense_Mutation_p.V397I|MET_uc010lkg.3_Missense_Mutation_p.V378I|MET_uc011kmz.1_Missense_Mutation_p.V378I|MET_uc011kna.1_Missense_Mutation_p.V378I|MET_uc011knb.1_Missense_Mutation_p.V378I	p.V378I	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		1	1319	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	378			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1132G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715979	0.30413	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.04406	3.63;3.63;3.63	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.217393	0.48286	D	0.000198	T	0.14960	0.0361	L	0.56396	1.775	0.80722	D	1	P;B;D;B;B;B;B;B;P;B;B;D;D	0.61697	0.916;0.43;0.987;0.032;0.032;0.032;0.057;0.057;0.945;0.276;0.032;0.99;0.99	B;B;P;B;B;B;B;B;P;B;B;P;P	0.54460	0.298;0.116;0.713;0.021;0.021;0.016;0.031;0.031;0.476;0.104;0.025;0.753;0.753	T	0.00173	-1.1957	10	0.35671	T	0.21	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	378;378;378;378;378;378;378;378;378;378;378;378;378	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	I	378	ENSP00000380860:V378I;ENSP00000317272:V378I;ENSP00000410980:V378I	ENSP00000317272:V378I	V	+	1	0	MET	116127506	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	6.696000	0.74598	2.873000	0.98535	0.563000	0.77884	GTC		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
KCNH2	3757	broad.mit.edu	37	7	150645539	150645539	+	Silent	SNP	C	C	T	rs376008424		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:150645539C>T	ENST00000262186.5	-	11	3086	c.2685G>A	c.(2683-2685)acG>acA	p.T895T	KCNH2_ENST00000330883.4_Silent_p.T555T|KCNH2_ENST00000392968.2_Silent_p.T799T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	895					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	cacccTTGTCCGTGCGCCTGC	0.672																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.3																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2683-2685)acG>acA		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						31.0	31.0	31.0					7																	150645539		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150645539C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2685G>A	7.37:g.150645539C>T						KCNH2_uc003wib.3_Silent_p.T555T|KCNH2_uc011kux.2_Silent_p.T799T	p.T895T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	3086	-	all_neural(206;0.219)		895					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.2685G>A	CCDS5910.1																																																																																				0.672	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
NEFM	4741	broad.mit.edu	37	8	24775127	24775127	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:24775127A>G	ENST00000221166.5	+	3	2541	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Missense_Mutation_p.K211E|NEFM_ENST00000518131.1_Missense_Mutation_p.K587E|NEFM_ENST00000437366.2_Missense_Mutation_p.K587E|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	587	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaaaagaaagtggagga	0.493																																						uc003xed.4																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1759-1761)Aaa>Gaa		Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.							35.0	40.0	38.0					8																	24775127		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775127A>G	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1759A>G	8.37:g.24775127A>G	ENSP00000221166:p.Lys587Glu					NEFM_uc011lac.1_Missense_Mutation_p.K587E|NEFM_uc010lue.3_Missense_Mutation_p.K211E	p.K587E	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	2	1792	+		Prostate(55;0.157)	587			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1759A>G	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	4.150	0.026237	0.08054	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94232	-1.67;-1.6;-1.71;-3.38	3.89	2.71	0.32032	.	0.332477	0.22106	N	0.064557	D	0.87873	0.6287	M	0.63843	1.955	0.30011	N	0.815203	B;B	0.21452	0.001;0.056	B;B	0.12837	0.001;0.008	T	0.73279	-0.4033	10	0.02654	T	1	.	6.6578	0.22996	0.7952:0.0:0.2048:0.0	.	587;587	E7EMV2;P07197	.;NFM_HUMAN	E	587;587;587;211	ENSP00000221166:K587E;ENSP00000427872:K587E;ENSP00000410137:K587E;ENSP00000412295:K211E	ENSP00000221166:K587E	K	+	1	0	NEFM	24831032	1.000000	0.71417	0.954000	0.39281	0.716000	0.41182	1.779000	0.38624	0.625000	0.30304	0.260000	0.18958	AAA		0.493	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
UBR5	51366	broad.mit.edu	37	8	103297923	103297923	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:103297923C>G	ENST00000520539.1	-	39	5908	c.5302G>C	c.(5302-5304)Gct>Cct	p.A1768P	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768P|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTCCAAAGCAGCTGCTGCA	0.468																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5302-5304)Gct>Cct		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							71.0	68.0	69.0					8																	103297923		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297923C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5302G>C	8.37:g.103297923C>G	ENSP00000429084:p.Ala1768Pro					UBR5_uc003yks.2_Missense_Mutation_p.A1768P	p.A1768P	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5757	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5302G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985962	0.93044	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.48201	0.82;0.82;0.82	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.58973	-0.7541	10	0.49607	T	0.09	.	19.8316	0.96638	0.0:1.0:0.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	P	1768;1768;1762	ENSP00000429084:A1768P;ENSP00000220959:A1768P;ENSP00000427819:A1762P	ENSP00000220959:A1768P	A	-	1	0	UBR5	103367099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.687000	0.91594	0.563000	0.77884	GCT		0.468	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
CSMD3	114788	broad.mit.edu	37	8	113420584	113420584	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:113420584T>C	ENST00000297405.5	-	34	5812	c.5568A>G	c.(5566-5568)ggA>ggG	p.G1856G	CSMD3_ENST00000455883.2_Silent_p.G1752G|CSMD3_ENST00000343508.3_Silent_p.G1816G|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1856	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGTTATTGGTCCAACTGAAG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5566-5568)ggA>ggG		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							177.0	174.0	175.0					8																	113420584		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113420584T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5568A>G	8.37:g.113420584T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.G1816G|CSMD3_uc011lhx.2_Silent_p.G1752G	p.G1856G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			33	5727	-			1856			CUB 10.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.5568A>G	CCDS6315.1																																																																																				0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
BICD2	23299	broad.mit.edu	37	9	95480999	95480999	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr9:95480999G>T	ENST00000375512.3	-	5	1995	c.1928C>A	c.(1927-1929)gCa>gAa	p.A643E	BICD2_ENST00000356884.6_Missense_Mutation_p.A643E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	643					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCACGGCTGCCTGCAGGTG	0.622																																						uc004asp.1																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1927-1929)gCa>gAa		Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.							131.0	129.0	129.0					9																	95480999		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95480999G>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1928C>A	9.37:g.95480999G>T	ENSP00000364662:p.Ala643Glu					BICD2_uc004aso.1_Missense_Mutation_p.A643E	p.A643E	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN			4	1985	-			643					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1928C>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722012	0.30503	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.41400	1.0;1.0	5.39	4.49	0.54785	.	0.385347	0.30036	N	0.010567	T	0.32224	0.0822	L	0.36672	1.1	0.36659	D	0.877849	B;B	0.30146	0.228;0.27	B;B	0.34931	0.121;0.192	T	0.17501	-1.0367	10	0.08381	T	0.77	-5.8932	11.9756	0.53089	0.0847:0.0:0.9153:0.0	.	643;643	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	643	ENSP00000349351:A643E;ENSP00000364662:A643E	ENSP00000349351:A643E	A	-	2	0	BICD2	94520820	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	5.105000	0.64591	1.429000	0.47314	0.561000	0.74099	GCA		0.622	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	
ARSH	347527	broad.mit.edu	37	X	2933417	2933417	+	Silent	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:2933417A>G	ENST00000381130.2	+	4	747	c.747A>G	c.(745-747)gcA>gcG	p.A249A		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	249					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAGGAGGCACTTGCTTTCA	0.398																																						uc011mhj.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(745-747)gcA>gcG		Homo sapiens arylsulfatase family, member H (ARSH), mRNA.							85.0	67.0	73.0					X																	2933417		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933417A>G	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.747A>G	X.37:g.2933417A>G							p.A249A	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			3	747	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	249						Silent	SNP	ENST00000381130.2	37	c.747A>G	CCDS35198.1																																																																																				0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
FRMPD4	9758	broad.mit.edu	37	X	12736450	12736450	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:12736450G>A	ENST00000380682.1	+	16	4011	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1169					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCAGAGGACGCTGACTCGTC	0.542																																						uc004cuz.2																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3505-3507)Gct>Act		Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.							151.0	134.0	140.0					X																	12736450		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736450G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3505G>A	X.37:g.12736450G>A	ENSP00000370057:p.Ala1169Thr					FRMPD4_uc011mij.2_Missense_Mutation_p.A1161T	p.A1169T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	4011	+			1169					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3505G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335720	0.11013	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05925	3.37	5.4	2.55	0.30701	.	0.428374	0.24566	N	0.037433	T	0.03564	0.0102	N	0.13235	0.315	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.09377	0.004;0.004	T	0.46898	-0.9158	10	0.17832	T	0.49	-0.8841	8.8254	0.35052	0.3628:0.0:0.6372:0.0	.	1161;1169	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	1169;1160;1158	ENSP00000370057:A1169T	ENSP00000304583:A1158T	A	+	1	0	FRMPD4	12646371	0.012000	0.17670	0.614000	0.29051	0.786000	0.44442	1.453000	0.35167	0.087000	0.17167	0.600000	0.82982	GCT		0.542	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
CHDC2	286464	broad.mit.edu	37	X	36091481	36091481	+	Splice_Site	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:36091481G>T	ENST00000313548.4	+	4	602	c.416G>T	c.(415-417)aGg>aTg	p.R139M		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	139						integral component of membrane (GO:0016021)											ACTATAAGAAGGTGAGAGTCC	0.343																																						uc004ddk.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.e4+1		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							66.0	60.0	62.0					X																	36091481		2202	4297	6499	SO:0001630	splice_region_variant	286464					integral to membrane		g.chrX:36091481G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.416+1G>T	X.37:g.36091481G>T							p.R139_splice	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	602	+			139						Missense_Mutation	SNP	ENST00000313548.4	37	c.416_splice	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504187	0.44558	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.09	5.09	0.68999	.	0.086219	0.39687	N	0.001281	T	0.45935	0.1367	L	0.27053	0.805	0.28339	N	0.921413	D	0.76494	0.999	P	0.58820	0.846	T	0.41627	-0.9498	9	0.54805	T	0.06	.	12.9162	0.58207	0.0:0.0:1.0:0.0	.	139	Q8N9S7	CX059_HUMAN	M	139	.	ENSP00000324767:R139M	R	+	2	0	CXorf59	36001402	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	6.681000	0.74523	2.105000	0.64084	0.529000	0.55759	AGG		0.343	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	Missense_Mutation
BCOR	54880	broad.mit.edu	37	X	39911637	39911637	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:39911637G>T	ENST00000378444.4	-	15	5221	c.4993C>A	c.(4993-4995)Ctg>Atg	p.L1665M	BCOR_ENST00000342274.4_Missense_Mutation_p.L1631M|BCOR_ENST00000378463.1_Missense_Mutation_p.L508M|BCOR_ENST00000378455.4_Missense_Mutation_p.L1613M|BCOR_ENST00000397354.3_Missense_Mutation_p.L1631M	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1665	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCGAAAGCAGTAGCCAGTTT	0.393			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4993-4995)Ctg>Atg		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							42.0	40.0	40.0					X																	39911637		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911637G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4993C>A	X.37:g.39911637G>T	ENSP00000367705:p.Leu1665Met					BCOR_uc004dep.4_Missense_Mutation_p.L1631M|BCOR_uc004deo.4_Missense_Mutation_p.L1613M|BCOR_uc010nhb.3_3'UTR|BCOR_uc004dem.4_Missense_Mutation_p.L1631M	p.L1665M	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			14	5285	-			1665					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.4993C>A	CCDS48093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702064|2.702064	0.48307|0.48307	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274|ENST00000427012	T;T;T;T;T;T|.	0.79454|.	-1.27;0.0;0.26;0.25;0.14;0.25|.	5.5|5.5	1.18|1.18	0.20946|0.20946	.|.	.|.	.|.	.|.	.|.	T|T	0.64494|0.64494	0.2603|0.2603	M|M	0.71036|0.71036	2.16|2.16	0.35632|0.35632	D|D	0.810275|0.810275	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;1.0|.	T|T	0.69580|0.69580	-0.5107|-0.5107	9|5	0.87932|.	D|.	0|.	-12.8966|-12.8966	11.2291|11.2291	0.48901|0.48901	0.3771:0.0:0.6229:0.0|0.3771:0.0:0.6229:0.0	.|.	1613;1665;1631|.	Q6W2J9-4;Q6W2J9;Q6W2J9-2|.	.;BCOR_HUMAN;.|.	M|N	535;508;1613;1631;1665;1631|281	ENSP00000408006:L535M;ENSP00000367724:L508M;ENSP00000367716:L1613M;ENSP00000380512:L1631M;ENSP00000367705:L1665M;ENSP00000345923:L1631M|.	ENSP00000345923:L1631M|.	L|T	-|-	1|2	2|0	BCOR|BCOR	39796581|39796581	0.330000|0.330000	0.24705|0.24705	0.822000|0.822000	0.32727|0.32727	0.637000|0.637000	0.38172|0.38172	0.805000|0.805000	0.27112|0.27112	0.357000|0.357000	0.24183|0.24183	0.594000|0.594000	0.82650|0.82650	CTG|ACT		0.393	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
HUWE1	10075	broad.mit.edu	37	X	53571567	53571567	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:53571567G>A	ENST00000342160.3	-	71	11662	c.11205C>T	c.(11203-11205)gaC>gaT	p.D3735D	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Silent_p.D3735D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3735					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.D3625D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCGCGTGTCGTCCCGGAGCT	0.552																																						uc004dsp.3																			1	Substitution - coding silent(1)	p.D3625D(1)	large_intestine(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11203-11205)gaC>gaT		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							83.0	65.0	71.0					X																	53571567		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53571567G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11205C>T	X.37:g.53571567G>A						HUWE1_uc004dsn.3_Silent_p.D2543D|HUWE1_uc004dsq.1_Silent_p.D50D	p.D3735D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			71	11607	-			3735					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.11205C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	6.773	0.511557	0.12944	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.52	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1667	0.25695	0.6672:0.0:0.3328:0.0	.	.	.	.	X	2769;573	.	.	R	-	1	2	HUWE1	53588292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.398000	0.34554	0.175000	0.19841	0.534000	0.68092	CGA		0.552	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
OPHN1	4983	broad.mit.edu	37	X	67331781	67331781	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:67331781G>A	ENST00000355520.5	-	18	2082	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	OPHN1_ENST00000540071.1_Missense_Mutation_p.R481C|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	481	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCTCCTAGGCGGTAATCCAGG	0.428																																						uc004dww.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1441-1443)Cgc>Tgc		Homo sapiens oligophrenin 1 (OPHN1), mRNA.							111.0	98.0	102.0					X																	67331781		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67331781G>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1441C>T	X.37:g.67331781G>A	ENSP00000347710:p.Arg481Cys					OPHN1_uc011mpg.2_Missense_Mutation_p.R481C	p.R481C	NM_002547	NP_002538	O60890	OPHN1_HUMAN			17	1735	-			481			Rho-GAP.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.1441C>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878096	0.72294	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.23147	1.92;1.92	5.06	4.13	0.48395	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.62286	-0.6886	10	0.87932	D	0	.	11.2646	0.49104	0.0:0.0:0.8055:0.1945	.	481;481	F5H2E3;O60890	.;OPHN1_HUMAN	C	481	ENSP00000347710:R481C;ENSP00000438617:R481C	ENSP00000347710:R481C	R	-	1	0	OPHN1	67248506	1.000000	0.71417	0.974000	0.42286	0.944000	0.59088	2.375000	0.44283	2.346000	0.79739	0.600000	0.82982	CGC		0.428	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	
TAF1	6872	broad.mit.edu	37	X	70598242	70598246	+	Frame_Shift_Del	DEL	ACTAT	ACTAT	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:70598242_70598246delACTAT	ENST00000373790.4	+	7	1139_1143	c.1088_1092delACTAT	c.(1087-1092)gactatfs	p.DY363fs	TAF1_ENST00000276072.3_Frame_Shift_Del_p.DY384fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.DY384fs|TAF1_ENST00000449580.1_Frame_Shift_Del_p.DY363fs	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	363	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTGGGTTTGACTATGGCTTCAAAC	0.454																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1087-1092)gactatfs		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70598242_70598246delACTAT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1088_1092delACTAT	X.37:g.70598242_70598246delACTAT	ENSP00000362895:p.Asp363fs					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Del_p.D384fs	p.D363fs	NM_138923	NP_620278	P21675	TAF1_HUMAN			6	1139_1143	+	Renal(35;0.156)	all_lung(315;0.000321)	363			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	c.1088_1092delACTAT	CCDS35325.1																																																																																				0.454	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
CAPN6	827	broad.mit.edu	37	X	110494471	110494471	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:110494471G>C	ENST00000324068.1	-	7	1104	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	CAPN6_ENST00000541758.1_Missense_Mutation_p.L58V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	313	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.L313V(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAAGCCCCAGGTTCTTGCGA	0.393																																						uc004epc.2																			1	Substitution - Missense(1)	p.L313V(2)	lung(1)	cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(937-939)Ctg>Gtg		Homo sapiens calpain 6 (CAPN6), mRNA.							47.0	41.0	43.0					X																	110494471		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494471G>C	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.937C>G	X.37:g.110494471G>C	ENSP00000317214:p.Leu313Val					CAPN6_uc011msu.2_Missense_Mutation_p.L58V	p.L313V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			6	1128	-			313			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.937C>G	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762079	0.31228	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90620	-2.7;-2.7	5.82	1.95	0.26073	Peptidase C2, calpain, catalytic domain (3);	0.257368	0.33732	N	0.004618	D	0.90542	0.7036	M	0.70275	2.135	0.52099	D	0.999944	P	0.46395	0.877	P	0.49953	0.627	D	0.88302	0.2950	10	0.56958	D	0.05	.	7.6589	0.28392	0.2593:0.0:0.6303:0.1104	.	313	Q9Y6Q1	CAN6_HUMAN	V	313;58	ENSP00000317214:L313V;ENSP00000441736:L58V	ENSP00000317214:L313V	L	-	1	2	CAPN6	110381127	0.848000	0.29623	0.999000	0.59377	0.220000	0.24768	1.092000	0.30927	0.623000	0.30267	-1.102000	0.02115	CTG		0.393	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
GRIA3	2892	broad.mit.edu	37	X	122538688	122538688	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:122538688G>A	ENST00000371251.1	+	10	1475	c.1423G>A	c.(1423-1425)Gtt>Att	p.V475I	GRIA3_ENST00000541091.1_Missense_Mutation_p.V459I|GRIA3_ENST00000264357.5_Missense_Mutation_p.V475I|GRIA3_ENST00000371256.5_Missense_Mutation_p.V475I|GRIA3_ENST00000542149.1_Missense_Mutation_p.V475I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	475					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ATTGTCCATCGTTGGTGACGG	0.418																																						uc004etq.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1423-1425)Gtt>Att		Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						210.0	179.0	189.0					X																	122538688		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122538688G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1423G>A	X.37:g.122538688G>A	ENSP00000360297:p.Val475Ile					GRIA3_uc004etr.4_Missense_Mutation_p.V475I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V459I	p.V475I	NM_007325	NP_015564	P42263	GRIA3_HUMAN			9	1715	+			475					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1423G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211877	0.79240	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.4	5.4	0.78164	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	H	0.94542	3.55	0.80722	D	1	D;D;D	0.64830	0.987;0.994;0.992	P;D;D	0.71184	0.779;0.972;0.952	D	0.94467	0.7681	10	0.87932	D	0	.	17.2878	0.87146	0.0:0.0:1.0:0.0	.	459;475;475	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	475;475;475;475;459	ENSP00000264357:V475I;ENSP00000446146:V475I;ENSP00000360302:V475I;ENSP00000360297:V475I;ENSP00000446440:V459I	ENSP00000264357:V475I	V	+	1	0	GRIA3	122366369	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	9.813000	0.99286	2.381000	0.81170	0.506000	0.49869	GTT		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
GPR112	139378	broad.mit.edu	37	X	135496349	135496349	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:135496349G>C	ENST00000394143.1	+	25	9359	c.9068G>C	c.(9067-9069)gGa>gCa	p.G3023A	GPR112_ENST00000412101.1_Missense_Mutation_p.G2818A|GPR112_ENST00000287534.4_Missense_Mutation_p.G2742A|GPR112_ENST00000394141.1_Missense_Mutation_p.G2818A|GPR112_ENST00000370652.1_Missense_Mutation_p.G3023A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3023					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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATAAAGGTTGGATATAAACAG	0.363																																						uc004ezu.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(9067-9069)gGa>gCa		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							105.0	106.0	106.0					X																	135496349		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135496349G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9068G>C	X.37:g.135496349G>C	ENSP00000377699:p.Gly3023Ala					GPR112_uc010nsb.1_Missense_Mutation_p.G2818A	p.G3023A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			24	9359	+	Acute lymphoblastic leukemia(192;0.000127)		3023					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.9068G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277434	0.23307	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27890	1.68;1.68;1.64;1.88;1.64	5.15	3.29	0.37713	.	.	.	.	.	T	0.25975	0.0633	L	0.36672	1.1	0.09310	N	1	P;P	0.47106	0.89;0.824	P;B	0.45881	0.496;0.3	T	0.06481	-1.0824	9	0.32370	T	0.25	.	5.932	0.19144	0.1068:0.0:0.6999:0.1932	.	2818;3023	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	A	3023;3023;2818;2742;2818	ENSP00000377699:G3023A;ENSP00000359686:G3023A;ENSP00000416526:G2818A;ENSP00000287534:G2742A;ENSP00000377697:G2818A	ENSP00000287534:G2742A	G	+	2	0	GPR112	135324015	0.350000	0.24878	0.014000	0.15608	0.011000	0.07611	0.673000	0.25203	1.016000	0.39470	0.506000	0.49869	GGA		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
PLXNA3	55558	broad.mit.edu	37	X	153694760	153694760	+	Silent	SNP	G	G	A	rs371349360		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:153694760G>A	ENST00000369682.3	+	16	3016	c.2841G>A	c.(2839-2841)gcG>gcA	p.A947A		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	947	IPT/TIG 2.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGCCCGGCGTCCGGGGGCA	0.662																																						uc004flm.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2839-2841)gcG>gcA		Homo sapiens plexin A3 (PLXNA3), mRNA.				0,3834		0,0,0,1632,570	65.0	77.0	73.0		2841	-10.0	0.0	X		73	1,6727		0,0,1,2428,1871	no	coding-synonymous	PLXNA3	NM_017514.3		0,0,1,4060,2441	AA,AG,A,GG,G		0.0149,0.0,0.0095		947/1872	153694760	1,10561	2202	4300	6502	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694760G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2841G>A	X.37:g.153694760G>A							p.A947A	NM_017514	NP_059984	P51805	PLXA3_HUMAN			15	3014	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		947			IPT/TIG 2.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2841G>A	CCDS14752.1																																																																																				0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
