#version 2.4
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## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_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
SKI	6497	broad.mit.edu	37	1	2234792	2234792	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:2234792G>A	ENST00000378536.4	+	3	1236	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	388					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CAGTGTCAGCGAGTGAGAAAG	0.622																																					Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.3																			0				lung(1)|central_nervous_system(1)	2						c.(1162-1164)GCG>GCA		v-ski sarcoma viral oncogene homolog							125.0	126.0	126.0					1																	2234792		2203	4300	6503	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2234792G>A	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1164G>A	1.37:g.2234792G>A							p.A388A	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	3	1236	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		388					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.1164G>A	CCDS39.1																																																																																				0.622	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036	
HIVEP3	59269	broad.mit.edu	37	1	42048030	42048030	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:42048030C>T	ENST00000372583.1	-	4	3324	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	HIVEP3_ENST00000372584.1_Silent_p.E813E|HIVEP3_ENST00000247584.5_Silent_p.E813E|HIVEP3_ENST00000429157.2_Silent_p.E813E|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	813	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACTCGGCTGCTCGAGAGAAT	0.557																																						uc001cgz.3																			0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2437-2439)GAG>GAA		human immunodeficiency virus type I enhancer							50.0	54.0	53.0					1																	42048030		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048030C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2439G>A	1.37:g.42048030C>T						HIVEP3_uc001cha.3_Silent_p.E813E|HIVEP3_uc001cgy.2_RNA	p.E813E	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3652	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	813			Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.2439G>A	CCDS463.1																																																																																				0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
ZYG11B	79699	broad.mit.edu	37	1	53250588	53250588	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:53250588C>T	ENST00000294353.6	+	5	1277	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	ZYG11B_ENST00000443756.2_Missense_Mutation_p.P378S|ZYG11B_ENST00000545132.1_Missense_Mutation_p.P378S	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	378										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TATGAATTTGCCAGTGCAACT	0.458																																						uc001cuj.2																			0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1132-1134)CCA>TCA		zyg-11 homolog B							103.0	104.0	104.0					1																	53250588		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53250588C>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1132C>T	1.37:g.53250588C>T	ENSP00000294353:p.Pro378Ser					ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.P369S	p.P378S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			5	1327	+			378					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1132C>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200244	0.38905	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.06933	3.24;3.24;3.24	5.13	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.106800	0.64402	D	0.000005	T	0.06188	0.0160	L	0.39020	1.185	0.49483	D	0.999792	P;P	0.43826	0.774;0.818	B;B	0.36567	0.207;0.228	T	0.27806	-1.0063	10	0.07644	T	0.81	.	13.2468	0.60028	0.0:0.9236:0.0:0.0764	.	378;378	B4DK95;Q9C0D3	.;ZY11B_HUMAN	S	378	ENSP00000400522:P378S;ENSP00000441315:P378S;ENSP00000294353:P378S	ENSP00000294353:P378S	P	+	1	0	ZYG11B	53023176	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.948000	0.56660	1.154000	0.42482	0.591000	0.81541	CCA		0.458	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	
PCSK9	255738	broad.mit.edu	37	1	55527067	55527067	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:55527067G>A	ENST00000302118.5	+	11	1991	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	567	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCCACTGGGAGGTGGAGGACC	0.642																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1699-1701)GAG>GAA		proprotein convertase subtilisin/kexin type 9							21.0	22.0	22.0					1																	55527067		2201	4300	6501	SO:0001819	synonymous_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55527067G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1701G>A	1.37:g.55527067G>A						PCSK9_uc010oom.1_RNA	p.E567E	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			11	1992	+			567					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.1701G>A	CCDS603.1																																																																																				0.642	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936	
TACSTD2	4070	broad.mit.edu	37	1	59041860	59041860	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:59041860C>T	ENST00000371225.2	-	1	1306	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	323					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CGGGTACCTACAAGCTCGGTT	0.592																																						uc001cyz.3																			0					0						c.(967-969)TTG>TTA		tumor-associated calcium signal transducer 2							56.0	55.0	55.0					1																	59041860		2203	4300	6503	SO:0001819	synonymous_variant	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59041860C>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.969G>A	1.37:g.59041860C>T							p.L323L	NM_002353	NP_002344	P09758	TACD2_HUMAN			1	1307	-	all_cancers(7;6.54e-05)		323			Cytoplasmic (Potential).		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	ENST00000371225.2	37	c.969G>A	CCDS609.1																																																																																				0.592	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353	
DDX20	11218	broad.mit.edu	37	1	112305594	112305594	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:112305594C>T	ENST00000369702.4	+	10	1897	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_Missense_Mutation_p.A34V	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	426	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAGAATTGCCCAGAAATGT	0.353																																						uc001ebs.2																			0				lung(1)|kidney(1)	2						c.(1276-1278)GCC>GTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							114.0	115.0	115.0					1																	112305594		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112305594C>T	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1277C>T	1.37:g.112305594C>T	ENSP00000358716:p.Ala426Val					DDX20_uc010owf.1_Missense_Mutation_p.A188V|DDX20_uc001ebt.2_Missense_Mutation_p.A34V	p.A426V	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1634	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	426			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1277C>T	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427626	0.96131	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.44881	1.22;0.91	5.33	5.33	0.75918	Helicase, C-terminal (1);	0.049378	0.85682	D	0.000000	T	0.47525	0.1450	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.91635	0.999;0.728	T	0.49615	-0.8921	10	0.59425	D	0.04	-39.8081	18.9932	0.92801	0.0:1.0:0.0:0.0	.	34;426	E9PJ60;Q9UHI6	.;DDX20_HUMAN	V	426;34	ENSP00000358716:A426V;ENSP00000435660:A34V	ENSP00000358716:A426V	A	+	2	0	DDX20	112107117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.100000	0.76989	2.649000	0.89929	0.650000	0.86243	GCC		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3																			5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
CRNN	49860	broad.mit.edu	37	1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A	rs200128647		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:152382359G>A	ENST00000271835.3	-	3	1261	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	400					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.P400L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23894	0.0		0.0	False		,,,				2504	0.0					uc001ezx.2																			1	Substitution - Missense(1)		prostate(1)	ovary(2)|skin(1)	3						c.(1198-1200)CCG>CTG		cornulin							96.0	80.0	85.0					1																	152382359		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382359G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1199C>T	1.37:g.152382359G>A	ENSP00000271835:p.Pro400Leu						p.P400L	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1273	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		400					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1199C>T	CCDS1010.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.586	-0.084551	0.07097	.	.	ENSG00000143536	ENST00000271835	T	0.03745	3.82	5.01	-10.0	0.00425	.	1.727610	0.03049	N	0.154336	T	0.00300	0.0009	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	10	0.02654	T	1	.	9.1807	0.37141	0.1601:0.0:0.5346:0.3053	.	400	Q9UBG3	CRNN_HUMAN	L	400	ENSP00000271835:P400L	ENSP00000271835:P400L	P	-	2	0	CRNN	150648983	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.802000	0.04545	-3.270000	0.00200	-1.627000	0.00785	CCG		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190	
CD1D	912	broad.mit.edu	37	1	158153825	158153825	+	Splice_Site	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:158153825C>T	ENST00000368171.3	+	6	1485	c.986C>T	c.(985-987)aCt>aTt	p.T329I		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGGCAAACGTAAGTCTCC	0.512																																						uc001frr.2																			0				ovary(1)	1						c.(985-987)ACT>ATT		CD1D antigen precursor							340.0	309.0	319.0					1																	158153825		2203	4300	6503	SO:0001630	splice_region_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158153825C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.986+1C>T	1.37:g.158153825C>T						CD1D_uc009wss.2_Missense_Mutation_p.T236I	p.T329I	NM_001766	NP_001757	P15813	CD1D_HUMAN			6	1485	+	all_hematologic(112;0.0378)		329			Cytoplasmic (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.986C>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924012	0.18056	.	.	ENSG00000158473	ENST00000368171	T	0.01474	4.85	3.87	0.935	0.19483	.	1.281110	0.05449	N	0.549115	T	0.00637	0.0021	N	0.22421	0.69	0.09310	N	1	B	0.29432	0.244	B	0.21360	0.034	T	0.47560	-0.9108	10	0.48119	T	0.1	0.0105	12.2124	0.54388	0.0:0.3669:0.6331:0.0	.	329	P15813	CD1D_HUMAN	I	329	ENSP00000357153:T329I	ENSP00000357153:T329I	T	+	2	0	CD1D	156420449	0.513000	0.26194	0.081000	0.20488	0.001000	0.01503	0.395000	0.20850	0.226000	0.20979	-0.837000	0.03062	ACT		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	Missense_Mutation
SERPINC1	462	broad.mit.edu	37	1	173883833	173883833	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:173883833C>T	ENST00000367698.3	-	2	384	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	89			R -> C (in AT3D; type-I; dbSNP:rs147266200). {ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GGTAGCAAAGCGGGAATTGGC	0.532											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gjt.2																			0				ovary(1)	1						c.(265-267)CGC>CAC		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						136.0	130.0	132.0					1																	173883833		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883833C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.266G>A	1.37:g.173883833C>T	ENSP00000356671:p.Arg89His		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911		p.R89H	NM_000488	NP_000479	P01008	ANT3_HUMAN			2	385	-			89		R -> C (in AT3D; type-I).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.266G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487762	0.44249	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82984	-1.67	5.67	-2.02	0.07388	Serpin domain (2);	0.319277	0.35677	N	0.003055	T	0.60663	0.2286	L	0.35288	1.05	0.50171	D	0.999857	B	0.21520	0.057	B	0.32724	0.151	T	0.49021	-0.8982	10	0.35671	T	0.21	.	11.199	0.48730	0.0:0.4628:0.0:0.5372	.	89	P01008	ANT3_HUMAN	H	89	ENSP00000356671:R89H	ENSP00000307953:R89H	R	-	2	0	SERPINC1	172150456	0.913000	0.31002	0.949000	0.38748	0.991000	0.79684	0.099000	0.15210	-0.394000	0.07727	0.561000	0.74099	CGC		0.532	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488	
PRG4	10216	broad.mit.edu	37	1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A	rs201785504		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:186280588G>A	ENST00000445192.2	+	10	3698	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H|PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H|PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367484.3_Missense_Mutation_p.R747H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1218					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGTACTGGCGTTTTACCAAT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		14970	0.001		0.0	False		,,,				2504	0.0					uc001gru.3																			0				skin(1)	1						c.(3652-3654)CGT>CAT		proteoglycan 4 isoform A							80.0	93.0	89.0					1																	186280588		2202	4300	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280588G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3653G>A	1.37:g.186280588G>A	ENSP00000399679:p.Arg1218His					PRG4_uc001grt.3_Missense_Mutation_p.R1177H|PRG4_uc009wyl.2_Missense_Mutation_p.R1125H|PRG4_uc009wym.2_Missense_Mutation_p.R1084H|PRG4_uc010poo.1_RNA	p.R1218H	NM_005807	NP_005798	Q92954	PRG4_HUMAN			10	3704	+			1218			Hemopexin-like 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3653G>A	CCDS1369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.78	2.933386	0.52866	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.000000	0.41823	D	0.000806	T	0.36331	0.0963	H	0.97131	3.945	0.47123	D	0.999329	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.58896	-0.7555	10	0.87932	D	0	-7.0976	18.551	0.91065	0.0:0.0:1.0:0.0	.	1084;1125;1218;1177	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1175;747;1177;1125;1218	ENSP00000356456:R1175H;ENSP00000356454:R747H;ENSP00000356453:R1177H;ENSP00000356455:R1125H;ENSP00000399679:R1218H	ENSP00000356453:R1177H	R	+	2	0	PRG4	184547211	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.083000	0.94067	2.453000	0.82957	0.585000	0.79938	CGT		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
LHX9	56956	broad.mit.edu	37	1	197889248	197889248	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:197889248C>T	ENST00000367387.4	+	2	746	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_ENST00000367390.3_Silent_p.S98S|LHX9_ENST00000367391.1_Silent_p.S98S|LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	107	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S107S(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557																																						uc001guk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(319-321)TCC>TCT		LIM homeobox 9 isoform 1							217.0	205.0	209.0					1																	197889248		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197889248C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.321C>T	1.37:g.197889248C>T						LHX9_uc001gui.1_Silent_p.S98S|LHX9_uc001guj.1_Silent_p.S113S	p.S107S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			2	758	+			107			LIM zinc-binding 1.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.321C>T	CCDS1393.1																																																																																				0.557	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
OBSCN	84033	broad.mit.edu	37	1	228509734	228509734	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:228509734G>A	ENST00000422127.1	+	55	15236	c.15192G>A	c.(15190-15192)gcG>gcA	p.A5064A	OBSCN_ENST00000366707.4_Silent_p.A2698A|OBSCN_ENST00000284548.11_Silent_p.A5064A|OBSCN_ENST00000570156.2_Silent_p.A6021A|OBSCN_ENST00000366709.4_Silent_p.A2183A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5064					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGAGGCGCTCACTGAGG	0.612																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(15190-15192)GCG>GCA		obscurin, cytoskeletal calmodulin and							28.0	32.0	31.0					1																	228509734		2006	4161	6167	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509734G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15192G>A	1.37:g.228509734G>A						OBSCN_uc001hsn.2_Silent_p.A5064A	p.A5064A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	15236	+		Prostate(94;0.0405)	5064					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.15192G>A	CCDS58065.1																																																																																				0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
C10orf53	282966	broad.mit.edu	37	10	50901822	50901822	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:50901822G>T	ENST00000374111.3	+	2	112	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	C10orf53_ENST00000374112.3_Missense_Mutation_p.V34L|C10orf53_ENST00000374113.3_Missense_Mutation_p.V34L|C10orf53_ENST00000535836.1_Missense_Mutation_p.V34L|CHAT_ENST00000455728.2_Silent_p.L542L	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	34										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CTTCCCAGCTGTGTTGGCCAT	0.468																																						uc001jib.2																			0					0						c.(100-102)GTG>TTG		chromosome 10 open reading frame 53 isoform b							144.0	131.0	135.0					10																	50901822		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50901822G>T	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.100G>T	10.37:g.50901822G>T	ENSP00000363225:p.Val34Leu					CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L|C10orf53_uc001jid.1_Missense_Mutation_p.V34L	p.V34L	NM_001042427	NP_001035892	Q8N6V4	CJ053_HUMAN			2	160	+		all_neural(218;0.107)	34					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374111.3	37	c.100G>T	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976030	0.53720	.	.	ENSG00000178645	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836	.	.	.	5.44	3.57	0.40892	.	0.275572	0.22565	U	0.058401	T	0.47857	0.1468	L	0.52011	1.625	0.37420	D	0.913615	P;P;B	0.50528	0.936;0.465;0.253	P;B;B	0.46320	0.512;0.243;0.073	T	0.49744	-0.8907	9	0.19147	T	0.46	-19.8463	10.7956	0.46459	0.1573:0.0:0.8427:0.0	.	34;34;34	B9ZVK6;Q8N6V4-2;Q8N6V4	.;.;CJ053_HUMAN	L	34	.	ENSP00000363225:V34L	V	+	1	0	C10orf53	50571828	1.000000	0.71417	0.955000	0.39395	0.284000	0.27059	2.272000	0.43373	1.438000	0.47492	0.655000	0.94253	GTG		0.468	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554	
STOX1	219736	broad.mit.edu	37	10	70644150	70644150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:70644150C>T	ENST00000298596.6	+	3	681	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Nonsense_Mutation_p.Q200*|STOX1_ENST00000399169.4_Nonsense_Mutation_p.Q200*|STOX1_ENST00000421961.2_Nonsense_Mutation_p.Q90*	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	200						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TACAACCACCCAGGAAAATAA	0.443																																						uc001jos.2																			0				kidney(1)|skin(1)	2						c.(598-600)CAG>TAG		storkhead box 1 isoform a							87.0	84.0	85.0					10																	70644150		1907	4120	6027	SO:0001587	stop_gained	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644150C>T	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.598C>T	10.37:g.70644150C>T	ENSP00000298596:p.Gln200*					STOX1_uc001jor.2_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Nonsense_Mutation_p.Q90*	p.Q200*	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	685	+			200					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Nonsense_Mutation	SNP	ENST00000298596.6	37	c.598C>T	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066231	0.55539	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000421961	.	.	.	5.58	2.57	0.30868	.	0.508313	0.17290	U	0.179668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	10.8655	0.46853	0.4354:0.446:0.1186:0.0	.	.	.	.	X	200;200;200;90	.	ENSP00000298596:Q200X	Q	+	1	0	STOX1	70314156	0.001000	0.12720	0.347000	0.25668	0.762000	0.43233	0.593000	0.23999	0.686000	0.31488	0.491000	0.48974	CAG		0.443	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709	
PTEN	5728	broad.mit.edu	37	10	89692810	89692810	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:89692810delA	ENST00000371953.3	+	5	1651	c.294delA	c.(292-294)ctafs	p.L98fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	98	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.F56fs*2(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)		CACCACAGCTAGAACTTATCA	0.358		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.2		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		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)	p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(292-294)CTAfs		phosphatase and tensin homolog							111.0	103.0	105.0					10																	89692810		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|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.chr10:89692810delA	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.294delA	10.37:g.89692810delA	ENSP00000361021:p.Leu98fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L98fs	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	1325	+		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)	98			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.294delA	CCDS31238.1																																																																																				0.358	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						uc001lpa.2																			3	Substitution - Missense(3)	p.P70T(1)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)	7						c.(208-210)CCC>ACC		interferon-induced transmembrane protein 3							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					uc001loz.2_Intron	p.P70T	NM_021034	NP_066362	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	309	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.|Helical; (Potential).		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
KRTAP5-4	387267	broad.mit.edu	37	11	1643251	1643251	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:1643251C>T	ENST00000399682.1	-	1	117	c.73G>A	c.(73-75)Ggc>Agc	p.G25S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cagccagagccacagccccca	0.692																																						uc009ycy.1																			0					0						c.(31-33)GGC>AGC		keratin associated protein 5-4							4.0	8.0	7.0					11																	1643251		643	1512	2155	SO:0001583	missense	387267					keratin filament		g.chr11:1643251C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.73G>A	11.37:g.1643251C>T	ENSP00000382590:p.Gly25Ser						p.G11S	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	118	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	25						Missense_Mutation	SNP	ENST00000399682.1	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	-	0.031	-1.332015	0.01298	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01139	5.28	2.15	1.22	0.21188	.	.	.	.	.	T	0.01730	0.0055	M	0.73598	2.24	0.20196	N	0.999929	B	0.31351	0.32	B	0.32090	0.14	T	0.43925	-0.9361	9	0.13470	T	0.59	.	7.1462	0.25585	0.0:0.8463:0.0:0.1537	.	25	Q6L8H1	KRA54_HUMAN	S	25	ENSP00000382590:G25S	ENSP00000331603:G25S	G	-	1	0	KRTAP5-4	1599827	0.004000	0.15560	0.472000	0.27241	0.011000	0.07611	0.089000	0.15002	0.466000	0.27193	-0.498000	0.04607	GGC		0.692	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
SLC6A5	9152	broad.mit.edu	37	11	20636272	20636272	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:20636272A>T	ENST00000525748.1	+	6	1306	c.1033A>T	c.(1033-1035)Act>Tct	p.T345S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	345					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGAACTCGACTTTCTGCAT	0.403																																						uc001mqd.2																			0				ovary(2)|breast(1)|skin(1)	4						c.(1033-1035)ACT>TCT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						178.0	160.0	166.0					11																	20636272		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20636272A>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1033A>T	11.37:g.20636272A>T	ENSP00000434364:p.Thr345Ser					SLC6A5_uc009yic.2_Missense_Mutation_p.T110S	p.T345S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			6	1306	+			345			Extracellular (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1033A>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310979	0.60414	.	.	ENSG00000165970	ENST00000525748	T	0.72942	-0.7	5.71	5.71	0.89125	.	1.493900	0.03576	N	0.229415	T	0.66327	0.2778	L	0.28556	0.865	0.80722	D	1	B	0.16166	0.016	B	0.24006	0.05	T	0.08411	-1.0723	10	0.15499	T	0.54	.	15.65	0.77084	1.0:0.0:0.0:0.0	.	345	Q9Y345	SC6A5_HUMAN	S	345	ENSP00000434364:T345S	ENSP00000434364:T345S	T	+	1	0	SLC6A5	20592848	1.000000	0.71417	0.849000	0.33467	0.966000	0.64601	5.199000	0.65152	2.178000	0.69098	0.482000	0.46254	ACT		0.403	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
OR8H3	390152	broad.mit.edu	37	11	55890213	55890213	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:55890213G>A	ENST00000313472.3	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTATGATCGCTATGCAGCG	0.468																																						uc001nii.1																			0				ovary(2)	2						c.(364-366)CGC>CAC		olfactory receptor, family 8, subfamily H,							219.0	205.0	210.0					11																	55890213		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890213G>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.365G>A	11.37:g.55890213G>A	ENSP00000323928:p.Arg122His						p.R122H	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	365	+	Esophageal squamous(21;0.00693)		122			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.365G>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844565	0.32606	.	.	ENSG00000181761	ENST00000313472	T	0.77489	-1.1	3.44	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.249486	0.28889	N	0.013810	T	0.75481	0.3855	M	0.86343	2.81	0.30982	N	0.722421	P	0.41345	0.746	B	0.34138	0.176	T	0.76934	-0.2775	10	0.72032	D	0.01	.	8.7093	0.34374	0.1942:0.0:0.8058:0.0	.	122	Q8N146	OR8H3_HUMAN	H	122	ENSP00000323928:R122H	ENSP00000323928:R122H	R	+	2	0	OR8H3	55646789	0.988000	0.35896	0.709000	0.30452	0.374000	0.29953	6.851000	0.75425	0.544000	0.28883	0.173000	0.16961	CGC		0.468	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
OR5A1	219982	broad.mit.edu	37	11	59210760	59210760	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:59210760C>T	ENST00000302030.2	+	1	144	c.119C>T	c.(118-120)aCc>aTc	p.T40I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	40						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTATCTTACCACCCTGGCC	0.502																																						uc001nnx.1																			0				ovary(1)|central_nervous_system(1)	2						c.(118-120)ACC>ATC		olfactory receptor, family 5, subfamily A,							135.0	128.0	130.0					11																	59210760		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210760C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.119C>T	11.37:g.59210760C>T	ENSP00000303096:p.Thr40Ile						p.T40I	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	119	+			40			Helical; Name=1; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.119C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.579008	0.00129	.	.	ENSG00000172320	ENST00000302030	T	0.00397	7.57	6.16	2.61	0.31194	.	0.418143	0.20218	N	0.096749	T	0.00144	0.0004	N	0.03967	-0.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.02654	T	1	-3.4997	10.908	0.47092	0.0:0.1483:0.0:0.8517	.	40	Q8NGJ0	OR5A1_HUMAN	I	40	ENSP00000303096:T40I	ENSP00000303096:T40I	T	+	2	0	OR5A1	58967336	0.019000	0.18553	0.000000	0.03702	0.008000	0.06430	2.107000	0.41844	0.194000	0.20326	-1.206000	0.01644	ACC		0.502	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
PPP1R32	220004	broad.mit.edu	37	11	61249365	61249365	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:61249365C>T	ENST00000338608.2	+	2	209	c.84C>T	c.(82-84)taC>taT	p.Y28Y	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Silent_p.Y28Y	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	28							phosphatase binding (GO:0019902)										TGAAATTCTACGCCACCAGCT	0.622																																						uc001nru.1																			0				ovary(1)	1						c.(82-84)TAC>TAT		IIIG9 protein							37.0	37.0	37.0					11																	61249365		2202	4299	6501	SO:0001819	synonymous_variant	220004							g.chr11:61249365C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.84C>T	11.37:g.61249365C>T						C11orf66_uc009ynq.1_Silent_p.Y28Y	p.Y28Y	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN			2	209	+			28					Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	c.84C>T	CCDS8008.1																																																																																				0.622	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017	
OVOL1	5017	broad.mit.edu	37	11	65561705	65561705	+	Missense_Mutation	SNP	C	C	T	rs547964049		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:65561705C>T	ENST00000335987.3	+	2	656	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Missense_Mutation_p.R40C	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	102					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		TGGCTTCCTGCGCACCAAGAT	0.612																																						uc001ofp.2																			0				central_nervous_system(1)	1						c.(304-306)CGC>TGC		OVO-like 1 binding protein							64.0	63.0	63.0					11																	65561705		2201	4297	6498	SO:0001583	missense	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65561705C>T	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.304C>T	11.37:g.65561705C>T	ENSP00000337862:p.Arg102Cys					OVOL1_uc001ofq.2_Missense_Mutation_p.R40C	p.R102C	NM_004561	NP_004552	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	2	620	+			102					Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	c.304C>T	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400277	0.42613	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.11277	2.91;2.79	4.95	4.02	0.46733	.	0.387780	0.24245	N	0.040223	T	0.05868	0.0153	N	0.08118	0	0.51482	D	0.99992	B	0.15473	0.013	B	0.08055	0.003	T	0.32666	-0.9898	10	0.38643	T	0.18	-29.3658	10.5526	0.45099	0.193:0.807:0.0:0.0	.	102	O14753	OVOL1_HUMAN	C	102;40	ENSP00000337862:R102C;ENSP00000434220:R40C	ENSP00000337862:R102C	R	+	1	0	OVOL1	65318281	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	0.894000	0.28350	1.040000	0.40099	0.655000	0.94253	CGC		0.612	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561	
KRTAP5-8	57830	broad.mit.edu	37	11	71249153	71249153	+	Missense_Mutation	SNP	G	G	A	rs534156781	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:71249153G>A	ENST00000398534.3	+	1	83	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	18						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGGGGGCTGCGGCTCTGGCTG	0.652													g|||	2	0.000399361	0.0	0.0	5008	,	,		11178	0.0		0.0	False		,,,				2504	0.002					uc001oqr.1																			0					0						c.(52-54)GGC>AGC		keratin associated protein 5-8							56.0	77.0	70.0					11																	71249153		2197	4287	6484	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249153G>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.52G>A	11.37:g.71249153G>A	ENSP00000420723:p.Gly18Ser						p.G18S	NM_021046	NP_066384	O75690	KRA58_HUMAN			1	83	+			18					Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.52G>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.315924	0.00235	.	.	ENSG00000241233	ENST00000398534	T	0.01599	4.74	1.47	0.521	0.17046	.	.	.	.	.	T	0.01421	0.0046	L	0.46885	1.475	0.09310	N	1	B	0.27932	0.194	B	0.26693	0.072	T	0.46925	-0.9156	9	0.05351	T	0.99	.	2.265	0.04077	0.1978:0.0:0.5053:0.2969	.	18	O75690	KRA58_HUMAN	S	18	ENSP00000420723:G18S	ENSP00000420723:G18S	G	+	1	0	KRTAP5-8	70926801	0.192000	0.23301	0.897000	0.35233	0.043000	0.13939	0.632000	0.24583	0.185000	0.20105	-0.279000	0.10071	GGC		0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
ARRB1	408	broad.mit.edu	37	11	74979943	74979943	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:74979943C>T	ENST00000420843.2	-	14	1180	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	ARRB1_ENST00000360025.3_Silent_p.P353P|ARRB1_ENST00000393505.4_Silent_p.P361P	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	361	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTTCCCGATGCGGGGGTTCCT	0.622																																						uc001owe.1																			0				breast(2)	2						c.(1081-1083)CCG>CCA		arrestin beta 1 isoform A							115.0	104.0	107.0					11																	74979943		2200	4293	6493	SO:0001819	synonymous_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74979943C>T	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1083G>A	11.37:g.74979943C>T						ARRB1_uc001owf.1_Silent_p.P353P	p.P361P	NM_004041	NP_004032	P49407	ARRB1_HUMAN			14	1305	-			361			Interaction with TRAF6.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	ENST00000420843.2	37	c.1083G>A	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	c	4.310	0.056889	0.08339	.	.	ENSG00000137486	ENST00000532447	.	.	.	4.05	-4.73	0.03259	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.38433	D	0.946483	.	.	.	.	.	.	T	0.38972	-0.9636	4	.	.	.	-3.507	1.0533	0.01585	0.287:0.3444:0.1463:0.2223	.	.	.	.	T	178	.	.	A	-	1	0	ARRB1	74657591	0.933000	0.31639	0.959000	0.39883	0.641000	0.38312	-0.058000	0.11750	-0.759000	0.04684	-1.318000	0.01297	GCA		0.622	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	
GRIN2B	2904	broad.mit.edu	37	12	13716218	13716218	+	Silent	SNP	G	G	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:13716218G>C	ENST00000609686.1	-	13	4163	c.3954C>G	c.(3952-3954)gcC>gcG	p.A1318A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1318					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTGCGCGGGGCCAGGGCGG	0.587																																						uc001rbt.2																			0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3952-3954)GCC>GCG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						67.0	76.0	73.0					12																	13716218		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716218G>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3954C>G	12.37:g.13716218G>C							p.A1318A	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4133	-			1318			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3954C>G	CCDS8662.1																																																																																				0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
OAS1	4938	broad.mit.edu	37	12	113346549	113346549	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:113346549G>A	ENST00000202917.5	+	2	652	c.389G>A	c.(388-390)cGt>cAt	p.R130H	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.R130H|OAS1_ENST00000452357.2_Missense_Mutation_p.R130H|OAS1_ENST00000553185.1_Missense_Mutation_p.R130H|OAS1_ENST00000551241.1_Missense_Mutation_p.R130H	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	130					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.R130L(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGCAACCCCCGTGCGCTCAGC	0.577																																						uc001tud.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(388-390)CGT>CAT		2',5'-oligoadenylate synthetase 1 isoform 1							81.0	76.0	78.0					12																	113346549		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113346549G>A	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.389G>A	12.37:g.113346549G>A	ENSP00000202917:p.Arg130His					OAS1_uc010syn.1_Missense_Mutation_p.R129H|OAS1_uc010syo.1_Missense_Mutation_p.R129H|OAS1_uc001tub.2_Missense_Mutation_p.R130H|OAS1_uc001tuc.2_Missense_Mutation_p.R130H|OAS1_uc009zwf.2_Missense_Mutation_p.R129H	p.R130H	NM_016816	NP_058132	P00973	OAS1_HUMAN			2	495	+			130			Necessary for binding to dsRNA.		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.389G>A	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687975	0.68271	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	4.31	4.31	0.51392	.	0.563411	0.15923	N	0.238042	T	0.40171	0.1106	M	0.91510	3.215	0.09310	N	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.80764	0.974;0.99;0.987;0.994;0.99;0.982	T	0.29941	-0.9995	10	0.87932	D	0	-25.987	12.456	0.55704	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	H	130;130;130;130;130;130;130;126	ENSP00000202917:R130H;ENSP00000388001:R130H;ENSP00000415721:R130H;ENSP00000448790:R130H;ENSP00000448001:R130H;ENSP00000448348:R126H	ENSP00000202917:R130H	R	+	2	0	OAS1	111830932	0.236000	0.23804	0.196000	0.23383	0.007000	0.05969	3.393000	0.52544	2.420000	0.82092	0.455000	0.32223	CGT		0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
OR4K15	81127	broad.mit.edu	37	14	20443959	20443959	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:20443959C>T	ENST00000305051.5	+	1	357	c.282C>T	c.(280-282)gaC>gaT	p.D94D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D94D(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTATAGACGTATGTGTTG	0.453																																						uc010tkx.1																			2	Substitution - coding silent(2)		lung(1)|prostate(1)	ovary(1)	1						c.(280-282)GAC>GAT		olfactory receptor, family 4, subfamily K,							107.0	119.0	115.0					14																	20443959		2203	4298	6501	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443959C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.282C>T	14.37:g.20443959C>T							p.D94D	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	282	+	all_cancers(95;0.00108)		94			Helical; Name=2; (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.282C>T	CCDS32026.1																																																																																				0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		
ARHGEF40	55701	broad.mit.edu	37	14	21543075	21543075	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21543075G>T	ENST00000298694.4	+	3	1313	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.D396Y			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	396						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCGAGGAGGGGACAGTGCCCC	0.597																																						uc001vzp.2																			0					0						c.(1186-1188)GAC>TAC		hypothetical protein LOC55701							89.0	77.0	81.0					14																	21543075		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21543075G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1186G>T	14.37:g.21543075G>T	ENSP00000298694:p.Asp396Tyr					FLJ10357_uc001vzn.1_Missense_Mutation_p.D396Y|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	p.D396Y	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	3	1215	+	all_cancers(95;0.00185)		396					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.1186G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236412	0.58886	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02579	4.31;4.24	5.14	5.14	0.70334	.	0.356351	0.24165	N	0.040946	T	0.05777	0.0151	N	0.14661	0.345	0.36219	D	0.851873	D;D	0.61697	0.963;0.99	P;P	0.60473	0.521;0.875	T	0.50516	-0.8819	10	0.62326	D	0.03	.	14.456	0.67416	0.0:0.0:1.0:0.0	.	396;396	Q8TER5;G3V3N2	ARH40_HUMAN;.	Y	396	ENSP00000298694:D396Y;ENSP00000298693:D396Y	ENSP00000298693:D396Y	D	+	1	0	ARHGEF40	20612915	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	2.896000	0.48656	2.550000	0.86006	0.462000	0.41574	GAC		0.597	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
CHD8	57680	broad.mit.edu	37	14	21871175	21871175	+	Splice_Site	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21871175C>T	ENST00000557364.1	-	18	3978		c.e18+1		CHD8_ENST00000555962.1_Splice_Site|CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000399982.2_Splice_Site			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATTCCTTTACCTGCAGGTCA	0.403																																						uc001was.1																			0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.e18+1		chromodomain helicase DNA binding protein 8							44.0	46.0	46.0					14																	21871175		2131	4266	6397	SO:0001630	splice_region_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21871175C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3714+1G>A	14.37:g.21871175C>T						CHD8_uc001war.1_Splice_Site_p.Q855_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice	p.Q959_splice	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	18	2971	-	all_cancers(95;0.00121)							Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Splice_Site	SNP	ENST00000557364.1	37	c.2877_splice	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080931	0.76528	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000555935	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7127	0.88326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD8	20941015	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.711000	0.92665	0.655000	0.94253	.		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Intron
ACTN1	87	broad.mit.edu	37	14	69356891	69356891	+	Missense_Mutation	SNP	C	C	T	rs575011573	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:69356891C>T	ENST00000193403.6	-	11	1582	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	ACTN1_ENST00000438964.2_Missense_Mutation_p.R400Q|ACTN1_ENST00000376839.3_Missense_Mutation_p.R335Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.R400Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.R400Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	400	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCCTTCTGCCGGAACTTCTC	0.647													c|||	2	0.000399361	0.0	0.0	5008	,	,		16477	0.0		0.0	False		,,,				2504	0.002					uc001xkl.2																			0				central_nervous_system(1)	1						c.(1198-1200)CGG>CAG		actinin, alpha 1 isoform b							76.0	60.0	66.0					14																	69356891		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69356891C>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1199G>A	14.37:g.69356891C>T	ENSP00000193403:p.Arg400Gln					ACTN1_uc001xkk.2_5'Flank|ACTN1_uc010ttb.1_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.2_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.2_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q	p.R400Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	11	1509	-			400			Spectrin 2.|Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1199G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071323	0.93950	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.52266	1.64	0.80722	D	1	B;P;B;B	0.38978	0.452;0.652;0.225;0.141	B;B;B;B	0.34452	0.048;0.183;0.017;0.054	T	0.47898	-0.9081	10	0.45353	T	0.12	.	17.8487	0.88738	0.0:1.0:0.0:0.0	.	400;400;400;400	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	Q	400;400;400;335;400	ENSP00000193403:R400Q;ENSP00000377941:R400Q;ENSP00000414272:R400Q;ENSP00000366035:R335Q;ENSP00000439828:R400Q	ENSP00000193403:R400Q	R	-	2	0	ACTN1	68426644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.913000	0.69957	2.432000	0.82394	0.655000	0.94253	CGG		0.647	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
FMN1	342184	broad.mit.edu	37	15	33261285	33261285	+	Missense_Mutation	SNP	C	C	T	rs372119445		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:33261285C>T	ENST00000559047.1	-	5	2616	c.2617G>A	c.(2617-2619)Gca>Aca	p.A873T	FMN1_ENST00000561249.1_Missense_Mutation_p.A775T|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Missense_Mutation_p.A650T			Q68DA7	FMN1_HUMAN	formin 1	873	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A650T(1)|p.A873T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGATGGATGCGGGAGGCGGA	0.612																																						uc001zhf.3																			2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(1948-1950)GCA>ACA		formin 1		C	THR/ALA	1,4021		0,1,2010	69.0	64.0	66.0		1948	4.2	0.4	15		66	1,8329		0,1,4164	no	missense	FMN1	NM_001103184.2	58	0,2,6174	TT,TC,CC		0.012,0.0249,0.0162	probably-damaging	650/1197	33261285	2,12350	2011	4165	6176	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261285C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2617G>A	15.37:g.33261285C>T	ENSP00000454047:p.Ala873Thr						p.A650T	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1948	-		all_lung(180;1.14e-07)	873			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1948G>A		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.565769	0.00903	2.49E-4	1.2E-4	ENSG00000248905	ENST00000334528	T	0.39406	1.08	4.17	4.17	0.49024	.	0.233781	0.35615	N	0.003100	T	0.32971	0.0847	N	0.08118	0	.	.	.	D	0.60160	0.987	P	0.53988	0.739	T	0.47686	-0.9098	9	0.46703	T	0.11	.	10.4484	0.44507	0.0:0.7359:0.2641:0.0	.	650	Q68DA7-5	.	T	650	ENSP00000333950:A650T	ENSP00000333950:A650T	A	-	1	0	FMN1	31048577	0.065000	0.20965	0.362000	0.25862	0.004000	0.04260	0.602000	0.24134	2.150000	0.67090	0.555000	0.69702	GCA		0.612	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
ITGA11	22801	broad.mit.edu	37	15	68643617	68643617	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:68643617G>A	ENST00000315757.7	-	8	959	c.873C>T	c.(871-873)aaC>aaT	p.N291N	ITGA11_ENST00000423218.2_Silent_p.N291N|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	291	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ATCTTGTTACGTTGTCTCTTT	0.552																																						uc002ari.2																			0				kidney(2)|pancreas(1)	3						c.(871-873)AAC>AAT		integrin, alpha 11 precursor	Tirofiban(DB00775)						125.0	130.0	129.0					15																	68643617		2066	4198	6264	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68643617G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.873C>T	15.37:g.68643617G>A						ITGA11_uc010bib.2_Silent_p.N291N	p.N291N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			8	960	-			291			VWFA.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.873C>T	CCDS45291.1																																																																																				0.552	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
CSPG4	1464	broad.mit.edu	37	15	75980091	75980091	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:75980091C>T	ENST00000308508.5	-	3	3407	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1105	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGACACCTGCAGCTGGATCC	0.657																																						uc002baw.2																			0				ovary(2)|pancreas(1)	3						c.(3313-3315)CTG>CTA		chondroitin sulfate proteoglycan 4 precursor							55.0	54.0	54.0					15																	75980091		2197	4290	6487	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980091C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3315G>A	15.37:g.75980091C>T							p.L1105L	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	3408	-			1105			Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6.		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.3315G>A	CCDS10284.1																																																																																				0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
C15orf27	123591	broad.mit.edu	37	15	76430102	76430102	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:76430102C>T	ENST00000388942.3	+	3	369	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	31					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AACAAGTAGACGAAGAAACCA	0.537																																						uc002bbq.2																			0					0						c.(91-93)GAC>GAT		hypothetical protein LOC123591							124.0	132.0	129.0					15																	76430102		1984	4161	6145	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76430102C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.93C>T	15.37:g.76430102C>T						C15orf27_uc010bkp.2_Translation_Start_Site|C15orf27_uc002bbr.2_Translation_Start_Site	p.D31D	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			3	248	+			31					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.93C>T	CCDS10289.2																																																																																				0.537	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335	
C15orf26	161502	broad.mit.edu	37	15	81429012	81429012	+	Silent	SNP	C	C	T	rs371138907		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:81429012C>T	ENST00000286732.4	+	3	398	c.315C>T	c.(313-315)gaC>gaT	p.D105D		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	105										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATCTGAAAGACGAATTAGAGG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19821	0.001		0.0	False		,,,				2504	0.0					uc002bgb.2																			0					0						c.(313-315)GAC>GAT		hypothetical protein LOC161502		C		0,4148		0,0,2074	123.0	126.0	125.0		315	-10.6	0.0	15		125	1,8421		0,1,4210	no	coding-synonymous	C15orf26	NM_173528.2		0,1,6284	TT,TC,CC		0.0119,0.0,0.0080		105/302	81429012	1,12569	2074	4211	6285	SO:0001819	synonymous_variant	161502							g.chr15:81429012C>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.315C>T	15.37:g.81429012C>T						C15orf26_uc010blp.1_Silent_p.D80D	p.D105D	NM_173528	NP_775799	Q6P656	CO026_HUMAN			3	342	+			105					Q8N906	Silent	SNP	ENST00000286732.4	37	c.315C>T	CCDS42068.1																																																																																				0.448	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	
HAPLN3	145864	broad.mit.edu	37	15	89430480	89430480	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:89430480C>A	ENST00000359595.3	-	2	264	c.50G>T	c.(49-51)gGa>gTa	p.G17V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.G79V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	17					cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GAAGGGCAGTCCGTAGGAGCC	0.642																																						uc002bnc.2																			0					0						c.(49-51)GGA>GTA		hyaluronan and proteoglycan link protein 3							111.0	98.0	102.0					15																	89430480		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89430480C>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.50G>T	15.37:g.89430480C>A	ENSP00000352606:p.Gly17Val					HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.G79V	p.G17V	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			2	178	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		17					A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.50G>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765093	0.31228	.	.	ENSG00000140511	ENST00000359595	T	0.05855	3.38	4.3	4.3	0.51218	.	0.315043	0.28262	N	0.015988	T	0.17280	0.0415	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;P	0.67725	0.953;0.878	T	0.00324	-1.1817	10	0.51188	T	0.08	-17.5989	9.5732	0.39440	0.0:0.8898:0.0:0.1102	.	17;17	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	17	ENSP00000352606:G17V	ENSP00000352606:G17V	G	-	2	0	HAPLN3	87231484	0.087000	0.21565	0.495000	0.27527	0.397000	0.30659	2.744000	0.47450	1.926000	0.55796	0.655000	0.94253	GGA		0.642	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
GNPTG	84572	broad.mit.edu	37	16	1412483	1412483	+	Missense_Mutation	SNP	G	G	A	rs139997459		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:1412483G>A	ENST00000204679.4	+	8	600	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	186					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCTGCAGCGGCAGTGGGAC	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15538	0.0		0.0	False		,,,				2504	0.0					uc002clm.2																			0				central_nervous_system(1)	1						c.(556-558)CGG>CAG		N-acetylglucosamine-1-phosphotransferase, gamma							33.0	37.0	36.0					16																	1412483		2199	4300	6499	SO:0001583	missense	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1412483G>A	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.557G>A	16.37:g.1412483G>A	ENSP00000204679:p.Arg186Gln						p.R186Q	NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN			8	592	+		Hepatocellular(780;0.0893)	186					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.557G>A	CCDS10436.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.761	0.324847	0.10900	.	.	ENSG00000090581	ENST00000204679	D	0.87729	-2.29	4.97	-4.38	0.03622	.	0.832224	0.11087	N	0.601236	T	0.53738	0.1815	N	0.00801	-1.175	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.57568	-0.7789	10	0.02654	T	1	-7.5368	4.9508	0.14013	0.6571:0.0:0.1133:0.2296	.	186	Q9UJJ9	GNPTG_HUMAN	Q	186	ENSP00000204679:R186Q	ENSP00000204679:R186Q	R	+	2	0	GNPTG	1352484	0.004000	0.15560	0.072000	0.20136	0.989000	0.77384	-0.056000	0.11787	-1.109000	0.02996	-0.312000	0.09012	CGG		0.682	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520	
TEKT5	146279	broad.mit.edu	37	16	10788509	10788509	+	Silent	SNP	C	C	T	rs532956287		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:10788509C>T	ENST00000283025.2	-	1	293	c.222G>A	c.(220-222)ccG>ccA	p.P74P	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	74						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642																																						uc002czz.1																			0				ovary(2)	2						c.(220-222)CCG>CCA		tektin 5							84.0	97.0	93.0					16																	10788509		2197	4300	6497	SO:0001819	synonymous_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788509C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.222G>A	16.37:g.10788509C>T							p.P74P	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	294	-			74					A1L3Z3	Silent	SNP	ENST00000283025.2	37	c.222G>A	CCDS10542.1																																																																																				0.642	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
ITGAM	3684	broad.mit.edu	37	16	31336846	31336846	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:31336846G>A	ENST00000287497.8	+	21	2606	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	ITGAM_ENST00000544665.3_Missense_Mutation_p.R845H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	844					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.R844H(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGATCCTGGCGCCTGGCCTGT	0.602																																						uc002ebq.2																			1	Substitution - Missense(1)		prostate(1)	kidney(1)	1						c.(2530-2532)CGC>CAC		integrin alpha M isoform 2 precursor							59.0	63.0	61.0					16																	31336846		2064	4193	6257	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336846G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2531G>A	16.37:g.31336846G>A	ENSP00000287497:p.Arg844His					ITGAM_uc002ebr.2_Missense_Mutation_p.R845H|ITGAM_uc010can.2_Missense_Mutation_p.R250H|ITGAM_uc002ebs.1_Missense_Mutation_p.R250H	p.R844H	NM_000632	NP_000623	P11215	ITAM_HUMAN			21	2629	+			844			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2531G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239314	0.22711	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47177	0.85;0.85	3.6	0.327	0.15913	Integrin alpha-2 (1);	.	.	.	.	T	0.39145	0.1067	M	0.65975	2.015	0.09310	N	1	B;B;B	0.28350	0.208;0.034;0.034	B;B;B	0.28232	0.087;0.052;0.052	T	0.30416	-0.9979	9	0.30078	T	0.28	.	3.361	0.07186	0.1096:0.1657:0.5561:0.1686	.	250;844;844	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	H	845;844	ENSP00000441691:R845H;ENSP00000287497:R844H	ENSP00000287497:R844H	R	+	2	0	ITGAM	31244347	0.001000	0.12720	0.078000	0.20375	0.104000	0.19210	0.254000	0.18314	0.741000	0.32674	-0.142000	0.14014	CGC		0.602	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
DPEP3	64180	broad.mit.edu	37	16	68010069	68010069	+	Missense_Mutation	SNP	C	C	T	rs377446311		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:68010069C>T	ENST00000268793.4	-	9	1605	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	386					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GCTCCAGCTACGACTCAGCAA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17638	0.0		0.0	False		,,,				2504	0.001					uc002evc.3																			0				breast(3)	3						c.(1231-1233)CGT>CAT		dipeptidase 3 isoform a		C	HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	143.0	132.0	136.0		1229,1232	4.8	0.9	16		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DPEP3	NM_001129758.1,NM_022357.3	29,29	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	410/513,411/514	68010069	2,12994	2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010069C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1232G>A	16.37:g.68010069C>T	ENSP00000268793:p.Arg411His					DPEP3_uc010cex.2_Missense_Mutation_p.R410H	p.R411H	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	9	1326	-		Ovarian(137;0.192)	386					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1232G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076454	0.76415	2.27E-4	1.16E-4	ENSG00000141096	ENST00000268793	T	0.27720	1.65	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	M	0.91459	3.21	0.58432	D	0.999995	P	0.37276	0.589	B	0.36885	0.235	T	0.59156	-0.7507	10	0.52906	T	0.07	-2.3584	17.0545	0.86530	0.0:1.0:0.0:0.0	.	386	Q9H4B8	DPEP3_HUMAN	H	411	ENSP00000268793:R411H	ENSP00000268793:R411H	R	-	2	0	DPEP3	66567570	1.000000	0.71417	0.925000	0.36789	0.995000	0.86356	5.589000	0.67523	2.619000	0.88677	0.655000	0.94253	CGT		0.577	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357	
CNTNAP4	85445	broad.mit.edu	37	16	76482757	76482757	+	Missense_Mutation	SNP	G	G	A	rs148969138		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:76482757G>A	ENST00000476707.1	+	5	984	c.845G>A	c.(844-846)cGt>cAt	p.R282H	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R278H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R278H|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R254H			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	279	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCATCCAGCGTTTGGGCAAA	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18074	0.0		0.0	False		,,,				2504	0.0					uc002feu.1																			0				ovary(1)|pancreas(1)	2						c.(835-837)CGT>CAT		cell recognition protein CASPR4 isoform 1		G	HIS/ARG,HIS/ARG	2,4394	4.2+/-10.8	0,2,2196	145.0	109.0	121.0		835,761	-1.6	0.0	16	dbSNP_134	121	0,8600		0,0,4300	no	missense,missense	CNTNAP4	NM_033401.3,NM_138994.3	29,29	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	benign,benign	279/1309,254/1236	76482757	2,12994	2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76482757G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.845G>A	16.37:g.76482757G>A	ENSP00000417628:p.Arg282His					CNTNAP4_uc002fev.1_Missense_Mutation_p.R191H|CNTNAP4_uc010chb.1_Missense_Mutation_p.R254H|CNTNAP4_uc002fex.1_Missense_Mutation_p.R282H|CNTNAP4_uc002few.2_Missense_Mutation_p.R254H	p.R279H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			8	1221	+			279			Extracellular (Potential).|Laminin G-like 1.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.836G>A		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885788	0.33348	4.55E-4	0.0	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.34	-1.56	0.08532	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.165870	0.06480	N	0.732719	T	0.69655	0.3135	.	.	.	0.24385	N	0.994777	B;B;B;B	0.15930	0.015;0.015;0.003;0.001	B;B;B;B	0.23716	0.022;0.033;0.048;0.002	T	0.57946	-0.7723	9	0.54805	T	0.06	.	5.2745	0.15641	0.4927:0.0:0.3685:0.1389	.	254;282;254;279	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	H	278;278;254;282	ENSP00000306893:R278H;ENSP00000439733:R278H;ENSP00000418741:R254H;ENSP00000417628:R282H	ENSP00000306893:R278H	R	+	2	0	CNTNAP4	75040258	0.015000	0.18098	0.016000	0.15963	0.942000	0.58702	0.148000	0.16224	-0.089000	0.12484	-0.727000	0.03589	CGT		0.483	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
SDR42E1	93517	broad.mit.edu	37	16	82033639	82033639	+	Missense_Mutation	SNP	G	G	A	rs572676726	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:82033639G>A	ENST00000328945.5	-	3	386	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	87					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)	p.R87R(1)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGTTGCTCCCGCCCTGACATA	0.498																																						uc002fgu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CGG>TGG		short chain dehydrogenase/reductase family 42E,							139.0	138.0	138.0					16																	82033639		2009	4183	6192	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033639G>A	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.259C>T	16.37:g.82033639G>A	ENSP00000332407:p.Arg87Trp						p.R87W	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	387	-			87					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.259C>T	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816052	0.32145	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.84516	-1.86;-1.86	6.03	-0.168	0.13343	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.153374	0.53938	D	0.000059	T	0.77691	0.4168	L	0.46947	1.48	0.27854	N	0.940637	B	0.20261	0.043	B	0.08055	0.003	T	0.69394	-0.5157	10	0.59425	D	0.04	-11.0901	10.569	0.45190	0.0694:0.0:0.3647:0.5658	.	87	Q8WUS8	D42E1_HUMAN	W	87;84	ENSP00000332407:R87W;ENSP00000434529:R84W	ENSP00000332407:R87W	R	-	1	2	SDR42E1	80591140	0.590000	0.26815	0.991000	0.47740	0.805000	0.45488	0.454000	0.21827	0.111000	0.17947	-0.899000	0.02877	CGG		0.498	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168	
CDH13	1012	broad.mit.edu	37	16	83704506	83704506	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:83704506G>A	ENST00000566620.1	+	9	1503	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	CDH13_ENST00000428848.3_Missense_Mutation_p.G366R|CDH13_ENST00000268613.10_Missense_Mutation_p.G452R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	405	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATCATCAACGGAAACCCCGG	0.498																																						uc002fgx.2																			0				large_intestine(1)	1						c.(1213-1215)GGA>AGA		cadherin 13 preproprotein							133.0	131.0	132.0					16																	83704506		1950	4145	6095	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704506G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1213G>A	16.37:g.83704506G>A	ENSP00000454435:p.Gly405Arg					CDH13_uc010vns.1_Missense_Mutation_p.G452R|CDH13_uc010vnt.1_Missense_Mutation_p.G151R|CDH13_uc010vnu.1_Missense_Mutation_p.G366R	p.G405R	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1333	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	405			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1213G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567704	0.86439	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.66460	-0.21	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87920	0.6299	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.90902	0.4769	9	0.87932	D	0	.	18.9266	0.92548	0.0:0.0:1.0:0.0	.	366;452;405	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	R	452;405;366;107;95	ENSP00000268613:G452R	ENSP00000268613:G452R	G	+	1	0	CDH13	82262007	1.000000	0.71417	0.998000	0.56505	0.574000	0.36063	9.082000	0.94059	2.717000	0.92951	0.585000	0.79938	GGA		0.498	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
TNFAIP1	7126	broad.mit.edu	37	17	26666722	26666722	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:26666722G>A	ENST00000226225.2	+	2	442	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	59	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CATGTTCAGTGGGCGCATGGA	0.617																																						uc002hax.1																			0					0						c.(175-177)GGG>AGG		tumor necrosis factor, alpha-induced protein 1							78.0	73.0	74.0					17																	26666722		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26666722G>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.175G>A	17.37:g.26666722G>A	ENSP00000226225:p.Gly59Arg					TNFAIP1_uc002hay.2_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.1_Intron	p.G59R	NM_021137	NP_066960	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	194	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		59			BTB.		B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.175G>A	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403034	0.62288	.	.	ENSG00000109079	ENST00000226225	T	0.76316	-1.01	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90790	0.4686	10	0.87932	D	0	-20.0916	18.751	0.91814	0.0:0.0:1.0:0.0	.	59	Q13829	BACD2_HUMAN	R	59	ENSP00000226225:G59R	ENSP00000226225:G59R	G	+	1	0	TNFAIP1	23690849	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.476000	0.97823	2.666000	0.90696	0.561000	0.74099	GGG		0.617	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137	
KRT32	3882	broad.mit.edu	37	17	39619277	39619277	+	Missense_Mutation	SNP	G	G	A	rs368676953		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:39619277G>A	ENST00000225899.3	-	6	1125	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	341	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCACTCTCCGTCAGCGTGTT	0.572																																						uc002hwr.2																			0					0						c.(1021-1023)ACG>ATG		keratin 32		G	MET/THR	0,4406		0,0,2203	66.0	67.0	67.0		1022	1.3	0.0	17		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT32	NM_002278.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	341/449	39619277	1,13005	2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39619277G>A	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1022C>T	17.37:g.39619277G>A	ENSP00000225899:p.Thr341Met						p.T341M	NM_002278	NP_002269	Q14532	K1H2_HUMAN			6	1083	-		Breast(137;0.000812)	341			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225899.3	37	c.1022C>T	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633016	0.29068	0.0	1.16E-4	ENSG00000108759	ENST00000225899	D	0.89050	-2.46	4.74	1.31	0.21738	Filament (1);	1.347140	0.05417	N	0.543572	D	0.85890	0.5802	L	0.60845	1.875	0.09310	N	1	P	0.34662	0.462	B	0.33254	0.16	T	0.74247	-0.3727	10	0.66056	D	0.02	.	5.6648	0.17689	0.081:0.1422:0.6389:0.1378	.	341	Q14532	K1H2_HUMAN	M	341	ENSP00000225899:T341M	ENSP00000225899:T341M	T	-	2	0	KRT32	36872803	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	0.888000	0.28268	0.493000	0.27837	0.491000	0.48974	ACG		0.572	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278	
DCC	1630	broad.mit.edu	37	18	50451729	50451729	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr18:50451729T>C	ENST00000442544.2	+	5	1590	c.974T>C	c.(973-975)cTc>cCc	p.L325P	DCC_ENST00000412726.1_Missense_Mutation_p.L173P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	325	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTGCAGAGCTCACAGTCTTG	0.388																																						uc002lfe.1																			0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(973-975)CTC>CCC		netrin receptor DCC precursor							125.0	127.0	126.0					18																	50451729		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50451729T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.974T>C	18.37:g.50451729T>C	ENSP00000389140:p.Leu325Pro					DCC_uc010xdr.1_Missense_Mutation_p.L173P	p.L325P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	5	1561	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	325			Extracellular (Potential).|Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.974T>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207589	0.39003	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.87571	-2.27;-2.27	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000006	D	0.96417	0.8831	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98034	1.0378	10	0.87932	D	0	.	15.3697	0.74554	0.0:0.0:0.0:1.0	.	173;325	E7EQM8;P43146	.;DCC_HUMAN	P	325;258;173	ENSP00000389140:L325P;ENSP00000397322:L173P	ENSP00000304146:L258P	L	+	2	0	DCC	48705727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.981000	0.70524	2.270000	0.75569	0.482000	0.46254	CTC		0.388	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
ATCAY	85300	broad.mit.edu	37	19	3909561	3909561	+	Missense_Mutation	SNP	G	G	A	rs373780288		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:3909561G>A	ENST00000450849.2	+	7	1192	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	ATCAY_ENST00000301260.6_Missense_Mutation_p.R242Q|ATCAY_ENST00000398448.3_Missense_Mutation_p.R248Q|ATCAY_ENST00000600960.1_Missense_Mutation_p.R242Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCCCCGGCGGAGGATGCCT	0.592																																						uc002lyy.3																			0				breast(1)	1						c.(724-726)CGG>CAG		caytaxin		G	GLN/ARG	0,4260		0,0,2130	41.0	46.0	44.0		725	5.2	1.0	19		44	1,8475		0,1,4237	no	missense	ATCAY	NM_033064.4	43	0,1,6367	AA,AG,GG		0.0118,0.0,0.0079	possibly-damaging	242/372	3909561	1,12735	2130	4238	6368	SO:0001583	missense	85300				transport		protein binding	g.chr19:3909561G>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.725G>A	19.37:g.3909561G>A	ENSP00000390941:p.Arg242Gln					ATCAY_uc010xhz.1_Missense_Mutation_p.R248Q|ATCAY_uc010dts.2_5'UTR	p.R242Q	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	7	1155	+		Hepatocellular(1079;0.137)	242			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.725G>A	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438391	0.83885	0.0	1.18E-4	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.24151	1.87;1.87;1.87	5.23	5.23	0.72850	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.290551	0.37136	N	0.002238	T	0.20981	0.0505	L	0.33668	1.02	0.41853	D	0.99018	P;B	0.43412	0.806;0.41	B;B	0.37650	0.255;0.163	T	0.02917	-1.1094	10	0.23891	T	0.37	.	17.8229	0.88655	0.0:0.0:1.0:0.0	.	248;242	B4DS11;Q86WG3	.;ATCAY_HUMAN	Q	242;242;242;248;220	ENSP00000390941:R242Q;ENSP00000301260:R242Q;ENSP00000381466:R248Q	ENSP00000301260:R242Q	R	+	2	0	ATCAY	3860561	1.000000	0.71417	0.996000	0.52242	0.872000	0.50106	5.046000	0.64226	2.456000	0.83038	0.585000	0.79938	CGG		0.592	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
TNFSF9	8744	broad.mit.edu	37	19	6534936	6534936	+	Silent	SNP	C	C	T	rs201323170		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:6534936C>T	ENST00000245817.3	+	3	662	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	208					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACCTGAGTGCCGGCCAGCGCC	0.697													c|||	1	0.000199681	0.0	0.0014	5008	,	,		12431	0.0		0.0	False		,,,				2504	0.0					uc002mfh.2																			0				central_nervous_system(1)	1						c.(622-624)GCC>GCT		tumor necrosis factor (ligand) superfamily,							14.0	16.0	15.0					19																	6534936		2185	4286	6471	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6534936C>T	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.624C>T	19.37:g.6534936C>T							p.A208A	NM_003811	NP_003802	P41273	TNFL9_HUMAN			3	662	+			208			Extracellular (Potential).		Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.624C>T	CCDS12169.1																																																																																				0.697	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811	
DOCK6	57572	broad.mit.edu	37	19	11361720	11361720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:11361720G>A	ENST00000294618.7	-	6	561	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	184					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCACTGCTTCGAGGGGTGTCT	0.607																																						uc002mqs.3																			0				ovary(2)|skin(1)	3						c.(550-552)CGA>TGA		dedicator of cytokinesis 6							22.0	27.0	25.0					19																	11361720		1984	4160	6144	SO:0001587	stop_gained	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11361720G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.550C>T	19.37:g.11361720G>A	ENSP00000294618:p.Arg184*						p.R184*	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			6	591	-			184					A6H8X5|Q7Z7P4|Q9P2F2	Nonsense_Mutation	SNP	ENST00000294618.7	37	c.550C>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	37	6.386196	0.97524	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1629	16.7706	0.85536	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000294618:R184X	R	-	1	2	DOCK6	11222720	1.000000	0.71417	0.690000	0.30148	0.678000	0.39670	7.173000	0.77612	2.250000	0.74265	0.462000	0.41574	CGA		0.607	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	
OR10H5	284433	broad.mit.edu	37	19	15905063	15905063	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:15905063A>G	ENST00000308940.8	+	1	303	c.205A>G	c.(205-207)Acc>Gcc	p.T69A		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	69						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						CCTCTCCATCACCGAGATCCT	0.622																																						uc010xos.1																			0				ovary(1)	1						c.(205-207)ACC>GCC		olfactory receptor, family 10, subfamily H,							199.0	160.0	173.0					19																	15905063		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905063A>G	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.205A>G	19.37:g.15905063A>G	ENSP00000310704:p.Thr69Ala						p.T69A	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	205	+			69			Helical; Name=2; (Potential).		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.205A>G	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	4.046	0.006202	0.07866	.	.	ENSG00000172519	ENST00000308940	T	0.02944	4.1	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000186	T	0.01627	0.0052	N	0.11364	0.135	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46816	-0.9164	10	0.46703	T	0.11	.	3.0744	0.06241	0.2124:0.1185:0.0:0.6691	.	69	Q8NGA6	O10H5_HUMAN	A	69	ENSP00000310704:T69A	ENSP00000310704:T69A	T	+	1	0	OR10H5	15766063	0.000000	0.05858	0.424000	0.26647	0.095000	0.18619	-1.097000	0.03349	0.351000	0.24027	-0.346000	0.07831	ACC		0.622	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1		
HIF3A	64344	broad.mit.edu	37	19	46832519	46832519	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:46832519A>G	ENST00000377670.4	+	12	1527	c.1496A>G	c.(1495-1497)gAc>gGc	p.D499G	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.D448G|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000300862.3_Missense_Mutation_p.D497G|HIF3A_ENST00000339613.2_Missense_Mutation_p.D443G|HIF3A_ENST00000600383.1_Missense_Mutation_p.D430G|HIF3A_ENST00000244303.6_Missense_Mutation_p.D430G	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	499	NTAD.|ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ATGGATGATGACTTCCAGCTC	0.622																																						uc002peh.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1495-1497)GAC>GGC		hypoxia inducible factor 3, alpha subunit							77.0	73.0	74.0					19																	46832519		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46832519A>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1496A>G	19.37:g.46832519A>G	ENSP00000366898:p.Asp499Gly					HIF3A_uc002peg.3_Missense_Mutation_p.D499G|HIF3A_uc002pei.3_Missense_Mutation_p.D443G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D443G|HIF3A_uc010xxy.1_Missense_Mutation_p.D430G|HIF3A_uc002pel.2_Missense_Mutation_p.D497G|HIF3A_uc010xxz.1_Missense_Mutation_p.D448G	p.D499G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	12	1525	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	499			NTAD.|ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1496A>G	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110824	0.77210	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	4.81	4.81	0.61882	.	0.316432	0.22910	N	0.054157	D	0.98732	0.9574	M	0.68952	2.095	0.48341	D	0.999636	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999;0.998	D	0.99312	1.0904	10	0.72032	D	0.01	.	11.0539	0.47907	1.0:0.0:0.0:0.0	.	448;430;497;443;499;499	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	G	499;499;430;443;443;497;448	ENSP00000366898:D499G;ENSP00000244303:D430G;ENSP00000341877:D443G;ENSP00000300862:D497G;ENSP00000407771:D448G	ENSP00000244302:D499G	D	+	2	0	HIF3A	51524359	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.945000	0.70226	1.935000	0.56089	0.528000	0.53228	GAC		0.622	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		
FPR2	2358	broad.mit.edu	37	19	52272915	52272915	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:52272915C>T	ENST00000598776.1	+	2	1776	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	FPR2_ENST00000598953.1_Missense_Mutation_p.T335M|FPR2_ENST00000340023.6_Missense_Mutation_p.T335M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	335					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.T335R(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTAATGACACGGCTGCCAAT	0.537																																						uc002pxr.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(1003-1005)ACG>ATG		formyl peptide receptor-like 1							66.0	63.0	64.0					19																	52272915		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272915C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.1004C>T	19.37:g.52272915C>T	ENSP00000468897:p.Thr335Met					FPR2_uc002pxs.3_Missense_Mutation_p.T335M|FPR2_uc010epf.2_Missense_Mutation_p.T335M	p.T335M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	1049	+			335			Cytoplasmic (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.1004C>T	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527363	0.44969	.	.	ENSG00000171049	ENST00000340023	T	0.39592	1.07	4.49	0.525	0.17072	.	0.401503	0.22134	U	0.064152	T	0.49525	0.1562	M	0.81802	2.56	0.09310	N	1	D	0.63046	0.992	P	0.51742	0.678	T	0.42531	-0.9446	10	0.62326	D	0.03	.	6.806	0.23779	0.3229:0.3606:0.3164:0.0	.	335	P25090	FPR2_HUMAN	M	335	ENSP00000340191:T335M	ENSP00000340191:T335M	T	+	2	0	FPR2	56964727	0.307000	0.24500	0.002000	0.10522	0.020000	0.10135	2.161000	0.42358	0.374000	0.24650	0.484000	0.47621	ACG		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
ZNF71	58491	broad.mit.edu	37	19	57133247	57133247	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:57133247C>T	ENST00000328070.6	+	3	826	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	198					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCAGCCAGCGCATGAACCT	0.637																																						uc002qnm.3																			0				skin(1)	1						c.(592-594)CGC>TGC		zinc finger protein 71							48.0	44.0	45.0					19																	57133247		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133247C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.592C>T	19.37:g.57133247C>T	ENSP00000328245:p.Arg198Cys						p.R198C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	830	+			198			C2H2-type 3.		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.592C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720095	0.30503	.	.	ENSG00000197951	ENST00000328070	T	0.08634	3.07	3.47	-0.465	0.12157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	L	0.33668	1.02	0.09310	N	1	B	0.28605	0.217	B	0.12156	0.007	T	0.30650	-0.9971	9	0.54805	T	0.06	.	10.7593	0.46256	0.7099:0.2901:0.0:0.0	.	198	Q9NQZ8	ZNF71_HUMAN	C	198	ENSP00000328245:R198C	ENSP00000328245:R198C	R	+	1	0	ZNF71	61825059	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-1.347000	0.02632	0.170000	0.19704	0.561000	0.74099	CGC		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
CCDC88A	55704	broad.mit.edu	37	2	55563820	55563821	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:55563820_55563821delTC	ENST00000436346.1	-	14	2493_2494	c.1652_1653delGA	c.(1651-1653)agafs	p.R551fs	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.R551fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.R551fs|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.R551fs|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	551					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATGAACCTGTCTCTCTGAATT	0.262																																						uc002ryv.2																			0				ovary(2)|skin(2)	4						c.(1651-1653)AGAfs		coiled-coil domain containing 88A isoform 1																																				SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55563820_55563821delTC	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1652_1653delGA	2.37:g.55563824_55563825delTC	ENSP00000410608:p.Arg551fs					CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank	p.R551fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			14	2494_2495	-			551			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.1652_1653delGA																																																																																					0.262	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						uc002siw.2																			0					0						c.(1192-1194)GAGdel		SMYD family member 5																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del					SMYD5_uc010yre.1_In_Frame_Del_p.E287del|SMYD5_uc002six.1_RNA	p.E403del	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			13	1221_1223	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
IL18RAP	8807	broad.mit.edu	37	2	103040451	103040451	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:103040451G>T	ENST00000264260.2	+	4	840	c.251G>T	c.(250-252)tGg>tTg	p.W84L	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	84					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GATGTCCAATGGTACCAACAA	0.458																																						uc002tbx.2																			0				skin(3)|ovary(2)	5						c.(250-252)TGG>TTG		interleukin 18 receptor accessory protein							93.0	85.0	88.0					2																	103040451		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040451G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.251G>T	2.37:g.103040451G>T	ENSP00000264260:p.Trp84Leu					IL18RAP_uc010fiz.2_Intron	p.W84L	NM_003853	NP_003844	O95256	I18RA_HUMAN			4	735	+			84			Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.251G>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390859	0.62066	.	.	ENSG00000115607	ENST00000264260	T	0.37058	1.22	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000007	T	0.59998	0.2235	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61850	-0.6978	10	0.87932	D	0	.	15.3869	0.74708	0.0:0.0:1.0:0.0	.	84	O95256	I18RA_HUMAN	L	84	ENSP00000264260:W84L	ENSP00000264260:W84L	W	+	2	0	IL18RAP	102406883	1.000000	0.71417	0.997000	0.53966	0.213000	0.24496	4.359000	0.59449	2.771000	0.95319	0.563000	0.77884	TGG		0.458	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
LRP2	4036	broad.mit.edu	37	2	170112639	170112639	+	Missense_Mutation	SNP	G	G	A	rs375755424		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:170112639G>A	ENST00000263816.3	-	19	3032	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	LRP2_ENST00000443831.1_Missense_Mutation_p.P779L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	916					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.P916Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAGTCCAAACGGATGTGTCAT	0.378																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2746-2748)CCG>CTG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	LEU/PRO	0,4406		0,0,2203	107.0	101.0	103.0		2747	5.5	1.0	2		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	916/4656	170112639	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170112639G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2747C>T	2.37:g.170112639G>A	ENSP00000263816:p.Pro916Leu					LRP2_uc010zdf.1_Missense_Mutation_p.P779L	p.P916L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	19	2960	-			916			LDL-receptor class B 9.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2747C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020436	0.93462	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94758	-3.51;-3.51	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98237	1.0486	10	0.87932	D	0	.	19.4272	0.94746	0.0:0.0:1.0:0.0	.	779;916	E9PC35;P98164	.;LRP2_HUMAN	L	916;779	ENSP00000263816:P916L;ENSP00000409813:P779L	ENSP00000263816:P916L	P	-	2	0	LRP2	169820885	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.530000	0.98051	2.593000	0.87608	0.591000	0.81541	CCG		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179442111	179442111	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:179442111G>A	ENST00000591111.1	-	274	64252	c.64028C>T	c.(64027-64029)gCa>gTa	p.A21343V	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A20416V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A14044V|TTN_ENST00000589042.1_Missense_Mutation_p.A22984V|TTN_ENST00000460472.2_Missense_Mutation_p.A13919V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A14111V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21343	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTTTCCTGCCTTGGACCA	0.403																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(61246-61248)GCA>GTA		titin isoform N2-A							120.0	105.0	110.0					2																	179442111		1880	4110	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442111G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64028C>T	2.37:g.179442111G>A	ENSP00000465570:p.Ala21343Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14111V|TTN_uc010zfi.1_Missense_Mutation_p.A14044V|TTN_uc010zfj.1_Missense_Mutation_p.A13919V|uc002umv.1_5'Flank	p.A20416V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61471	-			21343					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.61247C>T		.	.	.	.	.	.	.	.	.	.	G	12.85	2.061277	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.72	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45478	0.1344	L	0.41710	1.295	0.45502	D	0.998466	B;B;B;P	0.35493	0.324;0.324;0.324;0.505	B;B;B;P	0.44732	0.305;0.305;0.305;0.459	T	0.48980	-0.8986	9	0.87932	D	0	.	15.6788	0.77352	0.0:0.0:0.7735:0.2265	.	13919;14044;14111;21343	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20416;13919;14111;14044;13917	ENSP00000343764:A20416V;ENSP00000434586:A13919V;ENSP00000340554:A14111V;ENSP00000352154:A14044V	ENSP00000340554:A14111V	A	-	2	0	TTN	179150357	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.247000	0.72411	0.830000	0.34757	0.655000	0.94253	GCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MFF	56947	broad.mit.edu	37	2	228195421	228195421	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:228195421A>T	ENST00000353339.3	+	4	559	c.118A>T	c.(118-120)Act>Tct	p.T40S	MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Missense_Mutation_p.T14S|MFF_ENST00000409616.1_Missense_Mutation_p.T14S|MFF_ENST00000409565.1_Missense_Mutation_p.T14S|MFF_ENST00000354503.6_Missense_Mutation_p.T14S|MFF_ENST00000392059.1_Missense_Mutation_p.T40S|MFF_ENST00000337110.7_Missense_Mutation_p.T14S|MFF_ENST00000304593.9_Missense_Mutation_p.T14S|MFF_ENST00000524634.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	40					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AATGGAATATACTGAAGGCAT	0.458																																						uc002vos.2																			0				large_intestine(1)	1						c.(118-120)ACT>TCT		mitochondrial fission factor							83.0	69.0	74.0					2																	228195421		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228195421A>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.118A>T	2.37:g.228195421A>T	ENSP00000302037:p.Thr40Ser					MFF_uc002vot.2_Missense_Mutation_p.T14S|MFF_uc002vou.2_Missense_Mutation_p.T40S|MFF_uc002vov.2_Missense_Mutation_p.T14S|MFF_uc002vow.2_Missense_Mutation_p.T14S|MFF_uc002vox.2_Missense_Mutation_p.T14S|MFF_uc002voy.2_Missense_Mutation_p.T40S|MFF_uc002voz.2_Missense_Mutation_p.T14S	p.T40S	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN			4	536	+			40			Cytoplasmic (Potential).		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.118A>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	A	33	5.194217	0.94960	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	T;T;T	0.45668	1.27;0.89;1.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.71036	2.16	0.58432	D	0.999999	D;D;B;D;D;D	0.76494	0.999;0.993;0.323;0.959;0.977;0.99	D;P;B;P;D;D	0.76575	0.988;0.834;0.182;0.61;0.935;0.949	T	0.66252	-0.5970	10	0.54805	T	0.06	-4.2361	16.1537	0.81640	1.0:0.0:0.0:0.0	.	14;14;14;14;14;40	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	S	14;14;40;14;14;14;14;14;14;14;40;14;40	ENSP00000302037:T40S;ENSP00000391829:T40S;ENSP00000375912:T40S	ENSP00000304898:T14S	T	+	1	0	MFF	227903665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.930000	0.92872	2.213000	0.71641	0.528000	0.53228	ACT		0.458	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194	
UGT1A10	54575	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	C	T	rs145610800		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:234545533C>T	ENST00000344644.5	+	1	434	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A10_ENST00000373445.1_Missense_Mutation_p.S122L|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	122					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TTATTTTTTTCGCATTGCAGG	0.363																																						uc002vur.2																			0				ovary(2)|skin(1)	3						c.(364-366)TCG>TTG		UDP glycosyltransferase 1 family, polypeptide		C	LEU/SER,	1,4405	2.1+/-5.4	0,1,2202	106.0	114.0	111.0		365,	2.8	0.6	2	dbSNP_134	111	0,8600		0,0,4300	no	missense,intron	UGT1A10,UGT1A8	NM_019075.2,NM_019076.4	145,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	122/531,	234545533	1,13005	2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545533C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.365C>T	2.37:g.234545533C>T	ENSP00000343838:p.Ser122Leu					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S122L	p.S122L	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	411	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	122					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.365C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	1.678	-0.507136	0.04231	2.27E-4	0.0	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.61980	0.06;0.06	3.67	2.78	0.32641	.	.	.	.	.	T	0.47432	0.1445	L	0.37630	1.12	0.09310	N	1	P;B	0.40970	0.734;0.208	B;B	0.37780	0.258;0.11	T	0.25813	-1.0121	9	0.33940	T	0.23	.	6.6688	0.23056	0.0:0.673:0.1488:0.1782	.	122;122	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	L	122	ENSP00000343838:S122L;ENSP00000362544:S122L	ENSP00000343838:S122L	S	+	2	0	UGT1A10	234210272	0.000000	0.05858	0.597000	0.28824	0.023000	0.10783	-0.462000	0.06704	0.902000	0.36520	0.405000	0.27470	TCG		0.363	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075	
NEU4	129807	broad.mit.edu	37	2	242755707	242755707	+	Missense_Mutation	SNP	G	G	A	rs138212045		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:242755707G>A	ENST00000391969.2	+	3	737	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	NEU4_ENST00000407683.1_Missense_Mutation_p.R9Q|NEU4_ENST00000404257.1_Missense_Mutation_p.R21Q|NEU4_ENST00000405370.1_Missense_Mutation_p.R9Q|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000325935.6_Missense_Mutation_p.R22Q	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	9					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACCCCTTCACGGACAGTGCTC	0.692																																						uc010fzr.2																			0					0						c.(25-27)CGG>CAG		sialidase 4			GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	36.0	37.0	37.0		65,26,26,26,62	3.1	0.0	2	dbSNP_134	37	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	22/498,9/485,9/485,9/485,21/497	242755707	1,13005	2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755707G>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.26G>A	2.37:g.242755707G>A	ENSP00000375830:p.Arg9Gln					NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.R9Q|NEU4_uc002wcn.1_Missense_Mutation_p.R21Q|NEU4_uc002wco.1_Missense_Mutation_p.R9Q|NEU4_uc002wcp.1_Missense_Mutation_p.R21Q	p.R9Q	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	112	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	9					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.26G>A	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082359	0.76528	2.27E-4	0.0	ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435934;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	T;D;T;T;T;T;T;D;D;T;T	0.83837	2.98;-1.77;2.98;2.98;2.98;2.98;2.98;-1.77;-1.77;2.98;2.98	3.12	3.12	0.35913	Neuraminidase (1);	0.000000	0.85682	U	0.000000	D	0.87341	0.6153	L	0.54323	1.7	0.43230	D	0.995129	D;D;P	0.89917	1.0;1.0;0.792	D;D;B	0.87578	0.998;0.998;0.155	D	0.84838	0.0806	10	0.22706	T	0.39	-10.9157	14.3512	0.66702	0.0:0.0:1.0:0.0	.	21;21;9	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	Q	9;9;9;9;21;9;22;48;9;21;9;50	ENSP00000385402:R9Q;ENSP00000397167:R9Q;ENSP00000384804:R9Q;ENSP00000397860:R9Q;ENSP00000385149:R21Q;ENSP00000375830:R9Q;ENSP00000320318:R22Q;ENSP00000398571:R9Q;ENSP00000406678:R21Q;ENSP00000388707:R9Q;ENSP00000396197:R50Q	ENSP00000320318:R22Q	R	+	2	0	NEU4	242404380	0.993000	0.37304	0.025000	0.17156	0.031000	0.12232	4.575000	0.60908	1.587000	0.49959	0.443000	0.29094	CGG		0.692	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741	
CHGB	1114	broad.mit.edu	37	20	5903871	5903871	+	Missense_Mutation	SNP	C	C	T	rs144051265		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:5903871C>T	ENST00000378961.4	+	4	1285	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	361						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGTGGGAGCGCTATAGGGG	0.527																																						uc002wmg.2																			0				breast(3)|skin(2)|ovary(1)	6						c.(1081-1083)CGC>TGC		chromogranin B precursor		C	CYS/ARG	0,4406		0,0,2203	87.0	89.0	89.0		1081	3.0	0.0	20	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHGB	NM_001819.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	361/678	5903871	2,13004	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903871C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1081C>T	20.37:g.5903871C>T	ENSP00000368244:p.Arg361Cys					CHGB_uc010zqz.1_Missense_Mutation_p.R44C	p.R361C	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1387	+			361					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1081C>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692952	0.30052	0.0	2.33E-4	ENSG00000089199	ENST00000378961	T	0.02050	4.48	5.07	3.01	0.34805	.	1.255240	0.05824	N	0.616205	T	0.08447	0.0210	M	0.62723	1.935	0.09310	N	1	D	0.69078	0.997	P	0.57846	0.828	T	0.31779	-0.9931	10	0.87932	D	0	0.1302	7.44	0.27176	0.5507:0.3435:0.1058:0.0	.	361	P05060	SCG1_HUMAN	C	361	ENSP00000368244:R361C	ENSP00000368244:R361C	R	+	1	0	CHGB	5851871	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.083000	0.14871	0.553000	0.29044	0.563000	0.77884	CGC		0.527	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
SNTA1	6640	broad.mit.edu	37	20	32000203	32000203	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:32000203C>T	ENST00000217381.2	-	5	1210	c.939G>A	c.(937-939)ctG>ctA	p.L313L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	313	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTAGCAGGGCCAGGGTGGGGG	0.652																																						uc002wzd.1																			0				skin(1)	1						c.(937-939)CTG>CTA		acidic alpha 1 syntrophin							17.0	22.0	20.0					20																	32000203		2200	4295	6495	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32000203C>T	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.939G>A	20.37:g.32000203C>T						SNTA1_uc010zuf.1_Intron	p.L313L	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			5	1211	-			313			PH 2.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.939G>A	CCDS13220.1																																																																																				0.652	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	
SRMS	6725	broad.mit.edu	37	20	62178625	62178625	+	Silent	SNP	C	C	T	rs140773907		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:62178625C>T	ENST00000217188.1	-	1	232	c.192G>A	c.(190-192)gcG>gcA	p.A64A		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	64	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCACACCGCGCCGTGAAGT	0.692																																						uc002yfi.1																			0				stomach(1)|lung(1)	2						c.(190-192)GCG>GCA		src-related kinase lacking C-terminal regulatory		C		0,4330		0,0,2165	148.0	150.0	149.0		192	-2.8	0.0	20	dbSNP_134	149	1,8419		0,1,4209	no	coding-synonymous	SRMS	NM_080823.2		0,1,6374	TT,TC,CC		0.0119,0.0,0.0078		64/489	62178625	1,12749	2165	4210	6375	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178625C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.192G>A	20.37:g.62178625C>T							p.A64A	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	233	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		64			SH3.			Silent	SNP	ENST00000217188.1	37	c.192G>A	CCDS13525.1																																																																																				0.692	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823	
PCNT	5116	broad.mit.edu	37	21	47850134	47850134	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr21:47850134T>C	ENST00000359568.5	+	36	8008	c.7901T>C	c.(7900-7902)gTc>gCc	p.V2634A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2634					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCAGGAGGTCCTCCAGCTG	0.607																																						uc002zji.3																			0				ovary(4)|breast(2)|pancreas(2)	8						c.(7900-7902)GTC>GCC		pericentrin							51.0	50.0	50.0					21																	47850134		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47850134T>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7901T>C	21.37:g.47850134T>C	ENSP00000352572:p.Val2634Ala					PCNT_uc002zjj.2_Missense_Mutation_p.V2516A	p.V2634A	NM_006031	NP_006022	O95613	PCNT_HUMAN			36	8008	+	Breast(49;0.112)		2634			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7901T>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	t	14.89	2.669732	0.47677	.	.	ENSG00000160299	ENST00000359568	T	0.01821	4.62	4.31	1.9	0.25705	.	.	.	.	.	T	0.05227	0.0139	L	0.54323	1.7	0.09310	N	0.999995	D;D	0.76494	0.965;0.999	P;D	0.68353	0.546;0.957	T	0.41088	-0.9528	9	0.20046	T	0.44	.	7.1647	0.25683	0.0:0.1897:0.0:0.8103	.	2516;2634	O95613-2;O95613	.;PCNT_HUMAN	A	2634	ENSP00000352572:V2634A	ENSP00000352572:V2634A	V	+	2	0	PCNT	46674562	0.986000	0.35501	0.826000	0.32828	0.585000	0.36419	2.620000	0.46410	0.272000	0.22027	-0.550000	0.04213	GTC		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
FBLN2	2199	broad.mit.edu	37	3	13670420	13670420	+	Missense_Mutation	SNP	C	C	T	rs375695017		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670420C>T	ENST00000295760.7	+	11	2513	c.2444C>T	c.(2443-2445)aCg>aTg	p.T815M	FBLN2_ENST00000535798.1_Missense_Mutation_p.T841M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T862M|FBLN2_ENST00000404922.3_Missense_Mutation_p.T862M	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	815	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGAGTGCACGTCACTGTCC	0.662																																						uc011avb.1																			0				ovary(1)	1						c.(2443-2445)ACG>ATG		fibulin 2 isoform b precursor		C	MET/THR,MET/THR,MET/THR	0,4350		0,0,2175	37.0	41.0	40.0		2585,2585,2444	5.1	0.9	3		40	1,8567		0,1,4283	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	81,81,81	0,1,6458	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	862/1232,862/1232,815/1185	13670420	1,12917	2175	4284	6459	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670420C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2444C>T	3.37:g.13670420C>T	ENSP00000295760:p.Thr815Met					FBLN2_uc011auz.1_Missense_Mutation_p.T841M|FBLN2_uc011ava.1_Missense_Mutation_p.T862M|FBLN2_uc011avc.1_Missense_Mutation_p.T862M	p.T815M	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		11	2569	+			815			EGF-like 5; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2444C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334854	0.41297	0.0	1.17E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.11	5.11	0.69529	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.115109	0.64402	D	0.000012	D	0.93501	0.7926	L	0.28556	0.865	0.44603	D	0.997571	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.998;0.999	D	0.93829	0.7126	10	0.48119	T	0.1	.	18.146	0.89655	0.0:1.0:0.0:0.0	.	815;862;841	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	M	841;862;815;862	ENSP00000445705:T841M;ENSP00000384169:T862M;ENSP00000295760:T815M;ENSP00000420042:T862M	ENSP00000295760:T815M	T	+	2	0	FBLN2	13645421	0.994000	0.37717	0.938000	0.37757	0.047000	0.14425	1.773000	0.38563	2.366000	0.80165	0.655000	0.94253	ACG		0.662	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
FBLN2	2199	broad.mit.edu	37	3	13670486	13670486	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670486A>G	ENST00000295760.7	+	11	2579	c.2510A>G	c.(2509-2511)cAg>cGg	p.Q837R	FBLN2_ENST00000535798.1_Missense_Mutation_p.Q863R|FBLN2_ENST00000492059.1_Missense_Mutation_p.Q884R|FBLN2_ENST00000404922.3_Missense_Mutation_p.Q884R	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	837	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TACACATGCCAGAGGAACCCG	0.652																																						uc011avb.1																			0				ovary(1)	1						c.(2509-2511)CAG>CGG		fibulin 2 isoform b precursor							42.0	47.0	45.0					3																	13670486		2176	4284	6460	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670486A>G	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2510A>G	3.37:g.13670486A>G	ENSP00000295760:p.Gln837Arg					FBLN2_uc011auz.1_Missense_Mutation_p.Q863R|FBLN2_uc011ava.1_Missense_Mutation_p.Q884R|FBLN2_uc011avc.1_Missense_Mutation_p.Q884R	p.Q837R	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		11	2635	+			837			EGF-like 5; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2510A>G	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165978	0.78339	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.91631	-2.88;-2.88;-2.25;-2.88	5.11	5.11	0.69529	EGF-like calcium-binding (2);	0.182838	0.49916	D	0.000139	D	0.92215	0.7531	N	0.20357	0.565	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.79784	0.982;0.993;0.993	D	0.92844	0.6291	10	0.48119	T	0.1	.	14.5761	0.68249	1.0:0.0:0.0:0.0	.	837;884;863	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	R	863;884;837;884	ENSP00000445705:Q863R;ENSP00000384169:Q884R;ENSP00000295760:Q837R;ENSP00000420042:Q884R	ENSP00000295760:Q837R	Q	+	2	0	FBLN2	13645487	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.233000	0.65337	1.917000	0.55516	0.533000	0.62120	CAG		0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
KCNH8	131096	broad.mit.edu	37	3	19575088	19575088	+	Missense_Mutation	SNP	G	G	A	rs527585599		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:19575088G>A	ENST00000328405.2	+	16	3087	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	941					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAAACAGGCGGGGCTGCTTA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001				NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0				lung(4)|ovary(1)	5						c.(2821-2823)GGG>AGG		potassium voltage-gated channel, subfamily H,							81.0	79.0	80.0					3																	19575088		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575088G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2821G>A	3.37:g.19575088G>A	ENSP00000328813:p.Gly941Arg					KCNH8_uc010hex.1_Missense_Mutation_p.G402R	p.G941R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			16	3016	+			941			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2821G>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	2.767	-0.256639	0.05829	.	.	ENSG00000183960	ENST00000328405	D	0.98280	-4.84	5.58	4.6	0.57074	.	0.709223	0.10956	U	0.615456	D	0.94132	0.8118	L	0.40543	1.245	0.41984	D	0.990814	P	0.35307	0.494	B	0.22753	0.041	D	0.90653	0.4584	9	.	.	.	.	3.6539	0.08213	0.3481:0.0:0.6519:0.0	.	941	Q96L42	KCNH8_HUMAN	R	941	ENSP00000328813:G941R	.	G	+	1	0	KCNH8	19550092	0.228000	0.23718	0.014000	0.15608	0.059000	0.15707	3.331000	0.52075	2.616000	0.88540	0.655000	0.94253	GGG		0.547	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
RTP3	83597	broad.mit.edu	37	3	46542293	46542293	+	Silent	SNP	C	C	T	rs547846654		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:46542293C>T	ENST00000296142.3	+	2	1175	c.603C>T	c.(601-603)taC>taT	p.Y201Y		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	201					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTATTCCTACGCATGCCAAA	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21194	0.0		0.0	False		,,,				2504	0.0					uc003cps.1																			0				ovary(2)	2						c.(601-603)TAC>TAT		transmembrane protein 7							82.0	79.0	80.0					3																	46542293		2203	4300	6503	SO:0001819	synonymous_variant	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542293C>T	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.603C>T	3.37:g.46542293C>T							p.Y201Y	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	671	+			201			Cytoplasmic (Potential).		A2RRP6	Silent	SNP	ENST00000296142.3	37	c.603C>T	CCDS2740.1																																																																																				0.453	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440	
DNAH1	25981	broad.mit.edu	37	3	52433096	52433096	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52433096G>C	ENST00000420323.2	+	76	12581	c.12320G>C	c.(12319-12321)gGc>gCc	p.G4107A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4172					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCAAGATGGCATCCCAGCT	0.532																																						uc011bef.1																			0				large_intestine(3)	3						c.(12319-12321)GGC>GCC		dynein, axonemal, heavy chain 1							207.0	215.0	213.0					3																	52433096		1992	4161	6153	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433096G>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12320G>C	3.37:g.52433096G>C	ENSP00000401514:p.Gly4107Ala					DNAH1_uc003ddv.2_Missense_Mutation_p.G965A	p.G4107A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	76	12581	+			4172					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12320G>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355716	0.61293	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08282	3.11	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000003	T	0.34658	0.0905	M	0.86502	2.82	0.49389	D	0.999787	D;D	0.89917	1.0;0.986	D;P	0.97110	1.0;0.64	T	0.38373	-0.9664	10	0.62326	D	0.03	.	17.1652	0.86814	0.0:0.0:1.0:0.0	.	4107;4172	C9JXH6;Q9P2D7-2	.;.	A	4107;860	ENSP00000401514:G4107A	ENSP00000273600:G860A	G	+	2	0	DNAH1	52408136	1.000000	0.71417	0.996000	0.52242	0.629000	0.37895	7.663000	0.83820	2.356000	0.79943	0.655000	0.94253	GGC		0.532	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
NT5DC2	64943	broad.mit.edu	37	3	52563292	52563292	+	Silent	SNP	G	G	A	rs148646310	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52563292G>A	ENST00000307076.4	-	2	580	c.180C>T	c.(178-180)aaC>aaT	p.N60N	NT5DC2_ENST00000422318.2_Silent_p.N97N|NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000307092.4_Silent_p.N26N|NT5DC2_ENST00000459839.1_Silent_p.N97N	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	60							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GGCTGATCTCGTTGTTGGCGT	0.592													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20812	0.0		0.0	False		,,,				2504	0.001					uc003deo.2																			0					0						c.(178-180)AAC>AAT		5'-nucleotidase domain containing 2 isoform 2		G	,	1,4405	2.1+/-5.4	0,1,2202	219.0	178.0	192.0		291,180	-5.1	1.0	3	dbSNP_134	192	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NT5DC2	NM_001134231.1,NM_022908.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	97/558,60/521	52563292	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52563292G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.180C>T	3.37:g.52563292G>A						NT5DC2_uc003dem.2_5'Flank|NT5DC2_uc003den.2_Silent_p.N97N|NT5DC2_uc010hmi.2_Silent_p.N97N|NT5DC2_uc010hmj.2_Translation_Start_Site	p.N60N	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	2	604	-			60					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.180C>T	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	G	8.625	0.892327	0.17613	2.27E-4	0.0	ENSG00000168268	ENST00000489316	.	.	.	5.38	-5.08	0.02929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.8645	16.9029	0.86117	0.7841:0.0:0.2159:0.0	.	.	.	.	X	29	.	.	R	-	1	2	NT5DC2	52538332	0.869000	0.29996	0.971000	0.41717	0.971000	0.66376	0.049000	0.14099	-0.753000	0.04721	-0.378000	0.06908	CGA		0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908	
KIAA1524	57650	broad.mit.edu	37	3	108276241	108276241	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:108276241C>A	ENST00000295746.8	-	17	2110	c.2034G>T	c.(2032-2034)atG>atT	p.M678I	KIAA1524_ENST00000491772.1_Missense_Mutation_p.M519I	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	678					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCTCAACATACTAGCAA	0.368																																						uc003dxb.3																			0				ovary(2)|central_nervous_system(1)	3						c.(2032-2034)ATG>ATT		p90 autoantigen							94.0	83.0	86.0					3																	108276241		2201	4300	6501	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108276241C>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2034G>T	3.37:g.108276241C>A	ENSP00000295746:p.Met678Ile						p.M678I	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			17	2303	-			678			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2034G>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749195	0.69533	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.29655	1.56;1.56	5.89	5.89	0.94794	.	0.048339	0.85682	D	0.000000	T	0.26774	0.0655	N	0.24115	0.695	0.47153	D	0.999333	P	0.44690	0.841	B	0.39840	0.311	T	0.03121	-1.1070	10	0.59425	D	0.04	-19.7774	20.2527	0.98410	0.0:1.0:0.0:0.0	.	678	Q8TCG1	CIP2A_HUMAN	I	519;678	ENSP00000419487:M519I;ENSP00000295746:M678I	ENSP00000295746:M678I	M	-	3	0	KIAA1524	109758931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.320000	0.59203	2.788000	0.95919	0.557000	0.71058	ATG		0.368	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	
PLSCR2	57047	broad.mit.edu	37	3	146177634	146177634	+	Splice_Site	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:146177634C>T	ENST00000497985.1	-	4	716		c.e4+1		PLSCR2_ENST00000336685.2_Splice_Site	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2						phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTTGAAATTACCTGACTTAAG	0.373																																						uc003evv.1																			0					0						c.e3+1		phospholipid scramblase 2							114.0	111.0	112.0					3																	146177634		2203	4300	6503	SO:0001630	splice_region_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146177634C>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.276+1G>A	3.37:g.146177634C>T						PLSCR2_uc003evw.1_Splice_Site_p.Q88_splice	p.Q19_splice	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			3	390	-								B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Splice_Site	SNP	ENST00000497985.1	37	c.57_splice	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513717	0.44763	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.351	0.83208	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLSCR2	147660324	1.000000	0.71417	0.757000	0.31301	0.164000	0.22412	5.715000	0.68430	2.138000	0.66242	0.563000	0.77884	.		0.373	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	Intron
NFXL1	152518	broad.mit.edu	37	4	47864932	47864932	+	Splice_Site	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:47864932T>C	ENST00000507489.1	-	19	2423	c.2247A>G	c.(2245-2247)agA>agG	p.R749R	NFXL1_ENST00000381538.3_Splice_Site_p.R749R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	749						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGGTTATTTTTCTAAAAATAA	0.269																																						uc010igh.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(2245-2247)AGA>AGG		nuclear transcription factor, X-box binding-like							107.0	113.0	111.0					4																	47864932		2203	4298	6501	SO:0001630	splice_region_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47864932T>C	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2247-1A>G	4.37:g.47864932T>C						NFXL1_uc003gxo.2_Silent_p.R74R|NFXL1_uc003gxp.2_Silent_p.R749R|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.R749R	p.R749R	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			19	2424	-			749					B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	ENST00000507489.1	37	c.2247A>G	CCDS3478.2																																																																																				0.269	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	Silent
TXK	7294	broad.mit.edu	37	4	48069656	48069656	+	Nonstop_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:48069656A>T	ENST00000264316.4	-	15	1667	c.1582T>A	c.(1582-1584)Tga>Aga	p.*528R	TXK_ENST00000507351.1_Nonstop_Mutation_p.*183R	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	0					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GTTTCCGGTCACCAGGTTTCC	0.483																																						uc003gxx.3																			0					0						c.(1582-1584)TGA>AGA		TXK tyrosine kinase							119.0	125.0	123.0					4																	48069656		2203	4300	6503	SO:0001578	stop_lost	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48069656A>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1582T>A	4.37:g.48069656A>T						TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Nonstop_Mutation_p.*215R	p.*528R	NM_003328	NP_003319	P42681	TXK_HUMAN			15	1668	-			528					Q14220	Nonstop_Mutation	SNP	ENST00000264316.4	37	c.1582T>A	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	A	8.026	0.760733	0.15914	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0574	0.19819	0.6729:0.1669:0.0:0.1601	.	.	.	.	R	528;183	.	.	X	-	1	0	TXK	47764413	1.000000	0.71417	0.991000	0.47740	0.071000	0.16799	2.794000	0.47853	2.207000	0.71202	0.459000	0.35465	TGA		0.483	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328	
TMPRSS11F	389208	broad.mit.edu	37	4	68934340	68934340	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:68934340A>G	ENST00000356291.2	-	7	810	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTTACTTCCAAAAGCAGTGA	0.522																																						uc003hdt.1																			0				ovary(1)	1						c.(751-753)TGG>CGG		transmembrane protease, serine 11F							65.0	58.0	60.0					4																	68934340		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68934340A>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.751T>C	4.37:g.68934340A>G	ENSP00000348639:p.Trp251Arg					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.W251R	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			7	800	-			251			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.751T>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.391535	0.00200	.	.	ENSG00000198092	ENST00000356291	D	0.87729	-2.29	5.73	0.809	0.18725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.849622	0.10231	N	0.699659	T	0.56156	0.1966	N	0.00422	-1.515	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.51996	-0.8634	10	0.12103	T	0.63	.	3.5452	0.07826	0.2526:0.0:0.4501:0.2973	.	251	Q6ZWK6	TM11F_HUMAN	R	251	ENSP00000348639:W251R	ENSP00000348639:W251R	W	-	1	0	TMPRSS11F	68616935	0.015000	0.18098	0.305000	0.25099	0.017000	0.09413	-0.112000	0.10791	-0.165000	0.10908	-0.132000	0.14878	TGG		0.522	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	
SCARB2	950	broad.mit.edu	37	4	77102252	77102255	+	Splice_Site	DEL	TCCC	TCCC	-	rs145870223	byFrequency	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:77102252_77102255delTCCC	ENST00000264896.2	-	3	625_627	c.276_278delGGGA	c.(274-279)agggga>aga	p.G93fs	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	93					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GTTTCTGAGTTCCCTAAAAGAAAG	0.319																																						uc003hju.1																			0					0						c.e3-1		scavenger receptor class B, member 2																																				SO:0001630	splice_region_variant	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77102252_77102255delTCCC	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.276-1GGGA>-	4.37:g.77102252_77102255delTCCC						SCARB2_uc011cbu.1_Intron	p.R92_splice	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Lung(101;0.196)		3	615	-								B4DKD8|E7EM68|Q53Y63	Splice_Site	DEL	ENST00000264896.2	37	c.276_splice	CCDS3577.1																																																																																				0.319	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	Frame_Shift_Del
CDH18	1016	broad.mit.edu	37	5	19503219	19503219	+	Splice_Site	SNP	C	C	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:19503219C>G	ENST00000507958.1	-	13	2503		c.e13-1		CDH18_ENST00000506372.1_Splice_Site|CDH18_ENST00000502796.1_Splice_Site|CDH18_ENST00000274170.4_Splice_Site|CDH18_ENST00000511273.1_Splice_Site|CDH18_ENST00000382275.1_Splice_Site			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATGAATAACCTAAAGAAAAG	0.303																																						uc003jgc.2																			0				ovary(5)|large_intestine(1)|skin(1)	7						c.e10-1		cadherin 18, type 2 preproprotein							97.0	90.0	92.0					5																	19503219		2203	4300	6503	SO:0001630	splice_region_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19503219C>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1513-1G>C	5.37:g.19503219C>G						CDH18_uc003jgd.2_Splice_Site_p.V505_splice|CDH18_uc011cnm.1_Splice_Site_p.V505_splice	p.V505_splice	NM_004934	NP_004925	Q13634	CAD18_HUMAN			10	1890	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)							A8K0I2|B4DHG6|Q8N5Z2	Splice_Site	SNP	ENST00000507958.1	37	c.1513_splice	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497898	0.64186	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0605	0.59003	0.0:0.9218:0.0:0.0782	.	.	.	.	.	-1	.	.	.	-	.	.	CDH18	19538976	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.666000	0.74446	1.322000	0.45245	0.650000	0.86243	.		0.303	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	Intron
CDH9	1007	broad.mit.edu	37	5	26881626	26881626	+	Silent	SNP	G	G	A	rs202002897		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:26881626G>A	ENST00000231021.4	-	12	2161	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	663					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		16632	0.001		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1987-1989)GGC>GGT		cadherin 9, type 2 preproprotein							162.0	164.0	163.0					5																	26881626		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881626G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1989C>T	5.37:g.26881626G>A						CDH9_uc011cnv.1_Silent_p.G256G	p.G663G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2158	-			663			Cytoplasmic (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1989C>T	CCDS3893.1																																																																																				0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
UGT3A2	167127	broad.mit.edu	37	5	36035988	36035988	+	Missense_Mutation	SNP	C	C	T	rs545963580		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:36035988C>T	ENST00000282507.3	-	7	1485	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	UGT3A2_ENST00000545528.1_Missense_Mutation_p.V160I|UGT3A2_ENST00000513300.1_Missense_Mutation_p.V428I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	462					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCTGGAGGACGTGGTCAATC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		15483	0.0		0.0	False		,,,				2504	0.001					uc003jjz.1																			0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1384-1386)GTC>ATC		UDP glycosyltransferase 3 family, polypeptide A2							39.0	37.0	38.0					5																	36035988		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035988C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1384G>A	5.37:g.36035988C>T	ENSP00000282507:p.Val462Ile					UGT3A2_uc011cos.1_Missense_Mutation_p.V428I|UGT3A2_uc011cot.1_Missense_Mutation_p.V160I	p.V462I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1477	-	all_lung(31;0.000179)		462			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1384G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.312753	0.01331	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.65732	-0.17;-0.17;-0.17	2.74	-1.18	0.09617	.	0.081019	0.46442	N	0.000281	T	0.32793	0.0841	N	0.05012	-0.13	0.20074	N	0.999931	B;B	0.31655	0.334;0.027	B;B	0.31016	0.123;0.003	T	0.21965	-1.0230	10	0.35671	T	0.21	.	7.3078	0.26457	0.0:0.3223:0.0:0.6777	.	428;462	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	462;428;160	ENSP00000282507:V462I;ENSP00000427404:V428I;ENSP00000445367:V160I	ENSP00000282507:V462I	V	-	1	0	UGT3A2	36071745	1.000000	0.71417	0.020000	0.16555	0.016000	0.09150	0.882000	0.28186	-0.227000	0.09884	-1.264000	0.01445	GTC		0.617	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
PCDHA7	56141	broad.mit.edu	37	5	140215418	140215418	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:140215418G>A	ENST00000525929.1	+	1	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A484T|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGAAGAA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				ovary(2)|skin(2)	4						c.(1450-1452)GCG>ACG		protocadherin alpha 7 isoform 1 precursor							45.0	49.0	47.0					5																	140215418		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215418G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1450G>A	5.37:g.140215418G>A	ENSP00000436426:p.Ala484Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A484T	p.A484T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1450	+			484			Cadherin 5.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1450G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	5.103	0.204636	0.09704	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01838	4.61;4.61	4.0	1.82	0.25136	Cadherin (4);Cadherin-like (1);	0.000000	0.31519	U	0.007516	T	0.01765	0.0056	N	0.04508	-0.205	0.09310	N	1	B;B	0.25105	0.118;0.085	B;B	0.40825	0.061;0.341	T	0.45963	-0.9225	10	0.49607	T	0.09	.	4.8727	0.13640	0.2828:0.1546:0.5626:0.0	.	484;484	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	484	ENSP00000436426:A484T;ENSP00000367365:A484T	ENSP00000367365:A484T	A	+	1	0	PCDHA7	140195602	0.000000	0.05858	0.949000	0.38748	0.214000	0.24535	-0.439000	0.06897	0.141000	0.18875	0.298000	0.19748	GCG		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
DRD1	1812	broad.mit.edu	37	5	174869392	174869392	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:174869392G>A	ENST00000393752.2	-	2	1703	c.711C>T	c.(709-711)caC>caT	p.H237H		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	237					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)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AATTCTTGGCGTGGACTGCTG	0.483																																						uc003mcz.2																			0				ovary(2)|skin(1)	3						c.(709-711)CAC>CAT		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						108.0	109.0	109.0					5																	174869392		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869392G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.711C>T	5.37:g.174869392G>A							p.H237H	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1656	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	237			Cytoplasmic (Potential).		B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.711C>T	CCDS4393.1																																																																																				0.483	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794	
EEF1A1	1915	broad.mit.edu	37	6	74229088	74229088	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:74229088A>G	ENST00000316292.9	-	2	1287	c.296T>C	c.(295-297)aTc>aCc	p.I99T	EEF1A1_ENST00000331523.2_Missense_Mutation_p.I99T|EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I99T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	99	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATGTTTTTGATAAAGTCTCT	0.408											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.2																			0					0						c.(295-297)ATC>ACC		eukaryotic translation elongation factor 1 alpha							112.0	126.0	122.0					6																	74229088		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229088A>G	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.296T>C	6.37:g.74229088A>G	ENSP00000339063:p.Ile99Thr		OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.I99T|EEF1A1_uc003phf.2_Missense_Mutation_p.I99T|EEF1A1_uc003phg.2_Missense_Mutation_p.I99T|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_Missense_Mutation_p.I99T|EEF1A1_uc003phk.2_Missense_Mutation_p.I99T|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	p.I99T	NM_001402	NP_001393	P68104	EF1A1_HUMAN			2	333	-			99					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.296T>C	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.601483	0.46423	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303;ENST00000455918	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	4.45	4.45	0.53987	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000001	T	0.74222	0.3688	L	0.46614	1.455	0.80722	D	1	B;D;B;B	0.56521	0.029;0.976;0.029;0.029	P;D;P;P	0.87578	0.752;0.998;0.752;0.819	T	0.78648	-0.2122	10	0.87932	D	0	.	14.102	0.65062	1.0:0.0:0.0:0.0	.	99;99;99;99	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	T	99	ENSP00000339063:I99T;ENSP00000339053:I99T;ENSP00000330054:I99T;ENSP00000348651:I99T;ENSP00000392366:I99T	ENSP00000339053:I99T	I	-	2	0	EEF1A1	74285809	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	8.961000	0.93122	1.789000	0.52484	0.449000	0.29647	ATC		0.408	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402	
BACH2	60468	broad.mit.edu	37	6	90660866	90660866	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:90660866G>A	ENST00000257749.4	-	7	1666	c.959C>T	c.(958-960)cCc>cTc	p.P320L	BACH2_ENST00000343122.3_Missense_Mutation_p.P320L|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.P320L|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	320						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGGGCCGTGGGGGTAGGGGC	0.637																																						uc011eab.1																			0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(958-960)CCC>CTC		BTB and CNC homology 1, basic leucine zipper							27.0	29.0	29.0					6																	90660866		2202	4300	6502	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660866G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.959C>T	6.37:g.90660866G>A	ENSP00000257749:p.Pro320Leu					BACH2_uc003pnw.2_Missense_Mutation_p.P320L|BACH2_uc010kch.2_Missense_Mutation_p.P320L	p.P320L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1768	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	320					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.959C>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	7.738	0.700613	0.15106	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.35973	1.28;1.28;1.28	4.92	4.92	0.64577	.	0.262069	0.27696	N	0.018240	T	0.11067	0.0270	N	0.19112	0.55	0.32627	N	0.52257	B	0.02656	0.0	B	0.04013	0.001	T	0.07065	-1.0792	10	0.45353	T	0.12	-14.643	9.093	0.36623	0.0966:0.0:0.9034:0.0	.	320	Q9BYV9	BACH2_HUMAN	L	320	ENSP00000257749:P320L;ENSP00000437473:P320L;ENSP00000345642:P320L	ENSP00000257749:P320L	P	-	2	0	BACH2	90717587	0.445000	0.25657	0.640000	0.29408	0.067000	0.16453	0.000000	0.12993	2.560000	0.86352	0.655000	0.94253	CCC		0.637	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
FAM184A	79632	broad.mit.edu	37	6	119301415	119301415	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:119301415G>A	ENST00000338891.7	-	10	2632	c.2189C>T	c.(2188-2190)aCg>aTg	p.T730M	FAM184A_ENST00000352896.5_Missense_Mutation_p.T610M|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.T610M|FAM184A_ENST00000521531.1_Missense_Mutation_p.T730M	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	730						extracellular space (GO:0005615)		p.T730M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTCTTGCGTAAGCCGCTG	0.423																																						uc003pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(2188-2190)ACG>ATG		hypothetical protein LOC79632 isoform 1							125.0	117.0	120.0					6																	119301415		1907	4128	6035	SO:0001583	missense	79632							g.chr6:119301415G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2189C>T	6.37:g.119301415G>A	ENSP00000342604:p.Thr730Met					FAM184A_uc003pyk.3_Missense_Mutation_p.T610M|FAM184A_uc003pyl.3_Missense_Mutation_p.T610M	p.T730M	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			10	2537	-			730			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2189C>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231489	0.79688	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.17	6.17	0.99709	.	0.183892	0.52532	D	0.000072	T	0.42040	0.1185	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.66497	0.942;0.855;0.944	T	0.04650	-1.0936	10	0.48119	T	0.1	-14.5524	20.8794	0.99867	0.0:0.0:1.0:0.0	.	730;610;730	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	M	730;610;610;730	ENSP00000342604:T730M;ENSP00000326608:T610M;ENSP00000357460:T610M;ENSP00000430442:T730M	ENSP00000342604:T730M	T	-	2	0	FAM184A	119343114	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.608000	0.67654	2.941000	0.99782	0.655000	0.94253	ACG		0.423	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TTYH3	80727	broad.mit.edu	37	7	2687687	2687687	+	Splice_Site	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:2687687G>T	ENST00000258796.7	+	5	926	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000403167.1_Splice_Site_p.G70W|TTYH3_ENST00000477439.1_3'UTR	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	241					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CATCCTGGTGGGGTGAGTCTG	0.662																																						uc003smp.2																			0					0						c.(721-723)GGG>TGG		tweety 3							75.0	63.0	67.0					7																	2687687		2202	4300	6502	SO:0001630	splice_region_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687687G>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.722+1G>T	7.37:g.2687687G>T						TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.G70W	p.G241W	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	908	+		Ovarian(82;0.0112)	241			Helical; Name=4; (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.721G>T	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431870	0.62844	.	.	ENSG00000136295	ENST00000258796;ENST00000403167	T;T	0.11930	2.73;2.73	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.13255	-1.0516	10	0.38643	T	0.18	.	17.2022	0.86909	0.0:0.0:1.0:0.0	.	70;241	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	W	241;70	ENSP00000258796:G241W;ENSP00000385015:G70W	ENSP00000258796:G241W	G	+	1	0	TTYH3	2654213	1.000000	0.71417	0.968000	0.41197	0.790000	0.44656	9.096000	0.94182	2.121000	0.65114	0.561000	0.74099	GGG		0.662	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523	Missense_Mutation
AHR	196	broad.mit.edu	37	7	17379818	17379818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:17379818C>T	ENST00000242057.4	+	10	3012	c.2369C>T	c.(2368-2370)cCa>cTa	p.P790L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	790					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CAGTACAATCCAGTACTGCCA	0.443																																						uc011jxz.1																			0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(2368-2370)CCA>CTA		aryl hydrocarbon receptor precursor							59.0	60.0	60.0					7																	17379818		2182	4297	6479	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379818C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2369C>T	7.37:g.17379818C>T	ENSP00000242057:p.Pro790Leu					AHR_uc003stt.3_RNA	p.P790L	NM_001621	NP_001612	P35869	AHR_HUMAN			10	2982	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		790					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.2369C>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670294	0.67814	.	.	ENSG00000106546	ENST00000242057	T	0.56275	0.47	5.25	4.34	0.51931	.	0.221806	0.39083	N	0.001475	T	0.61515	0.2353	M	0.77103	2.36	0.09310	N	0.999998	P	0.52842	0.956	P	0.48368	0.575	T	0.61332	-0.7084	10	0.59425	D	0.04	.	15.4511	0.75274	0.1388:0.8612:0.0:0.0	.	790	P35869	AHR_HUMAN	L	790	ENSP00000242057:P790L	ENSP00000242057:P790L	P	+	2	0	AHR	17346343	0.068000	0.21057	0.010000	0.14722	0.015000	0.08874	3.885000	0.56182	2.729000	0.93468	0.650000	0.86243	CCA		0.443	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
C7orf62	219557	broad.mit.edu	37	7	88423665	88423665	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:88423665C>T	ENST00000297203.2	-	2	777	c.592G>A	c.(592-594)Gat>Aat	p.D198N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	198								p.D198N(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTAAGTTATCGCCTGGTCCT	0.423																																						uc003ujv.2																			2	Substitution - Missense(2)		large_intestine(1)|skin(1)		0						c.(592-594)GAT>AAT		hypothetical protein LOC219557							199.0	161.0	174.0					7																	88423665		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423665C>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.592G>A	7.37:g.88423665C>T	ENSP00000297203:p.Asp198Asn					ZNF804B_uc011khi.1_Intron	p.D198N	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	774	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		198						Missense_Mutation	SNP	ENST00000297203.2	37	c.592G>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515374	0.64634	.	.	ENSG00000164645	ENST00000297203	T	0.24723	1.84	5.91	5.03	0.67393	.	0.262333	0.36101	N	0.002792	T	0.29288	0.0729	M	0.74881	2.28	0.38929	D	0.957903	B	0.28439	0.212	B	0.22880	0.042	T	0.17137	-1.0379	10	0.62326	D	0.03	-0.699	11.0043	0.47624	0.0:0.9153:0.0:0.0847	.	198	Q8TBZ9	CG062_HUMAN	N	198	ENSP00000297203:D198N	ENSP00000297203:D198N	D	-	1	0	C7orf62	88261601	0.988000	0.35896	0.903000	0.35520	0.410000	0.31052	2.402000	0.44521	1.509000	0.48786	-0.136000	0.14681	GAT		0.423	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706	
RELN	5649	broad.mit.edu	37	7	103205876	103205876	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103205876A>G	ENST00000428762.1	-	34	5218	c.5059T>C	c.(5059-5061)Tct>Cct	p.S1687P	RELN_ENST00000424685.2_Missense_Mutation_p.S1687P|RELN_ENST00000343529.5_Missense_Mutation_p.S1687P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1687					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTTCAGAGAATACTGGAGC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5059-5061)TCT>CCT		reelin isoform a							118.0	103.0	108.0					7																	103205876		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205876A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5059T>C	7.37:g.103205876A>G	ENSP00000392423:p.Ser1687Pro					RELN_uc010liz.2_Missense_Mutation_p.S1687P	p.S1687P	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5219	-			1687			BNR 7.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5059T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.777646	0.90195	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.53640	0.61;0.61;0.61	6.02	6.02	0.97574	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	M	0.84585	2.705	0.58432	D	0.999999	D;D	0.89917	1.0;0.99	D;D	0.97110	1.0;0.972	T	0.77667	-0.2502	10	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1687;1687	P78509-2;P78509	.;RELN_HUMAN	P	1687	ENSP00000392423:S1687P;ENSP00000345694:S1687P;ENSP00000388446:S1687P	ENSP00000345694:S1687P	S	-	1	0	RELN	102993112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.645000	0.91049	2.311000	0.77944	0.533000	0.62120	TCT		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103338351	103338351	+	Silent	SNP	G	G	A	rs142192165		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103338351G>A	ENST00000428762.1	-	10	1251	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RELN_ENST00000424685.2_Silent_p.L364L|RELN_ENST00000343529.5_Silent_p.L364L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	364					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACTGGGTCGAGACTATCTT	0.418																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1090-1092)CTC>CTT		reelin isoform a		G	,	0,4406		0,0,2203	139.0	129.0	132.0		1092,1092	-12.1	0.2	7	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	364/3461,364/3459	103338351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338351G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1092C>T	7.37:g.103338351G>A						RELN_uc010liz.2_Silent_p.L364L	p.L364L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1252	-			364					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1092C>T	CCDS47680.1																																																																																				0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
CNTNAP2	26047	broad.mit.edu	37	7	146825899	146825899	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:146825899A>G	ENST00000361727.3	+	7	1570	c.1054A>G	c.(1054-1056)Aga>Gga	p.R352G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	352	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGATCTTGCCAGAAGGAAGAA	0.388										HNSCC(39;0.1)																												uc003weu.1																			0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1054-1056)AGA>GGA		cell recognition molecule Caspr2 precursor							108.0	112.0	111.0					7																	146825899		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146825899A>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1054A>G	7.37:g.146825899A>G	ENSP00000354778:p.Arg352Gly	HNSCC(39;0.1)					p.R352G	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1570	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	352			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1054A>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941471	0.53079	.	.	ENSG00000174469	ENST00000361727	D	0.89485	-2.52	5.64	3.23	0.37069	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.084718	0.43110	D	0.000614	D	0.83982	0.5372	L	0.46741	1.465	0.80722	D	1	P	0.38395	0.629	B	0.35114	0.196	T	0.81086	-0.1092	10	0.62326	D	0.03	.	11.6073	0.51039	0.6857:0.3143:0.0:0.0	.	352	Q9UHC6	CNTP2_HUMAN	G	352	ENSP00000354778:R352G	ENSP00000354778:R352G	R	+	1	2	CNTNAP2	146456832	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.902000	0.56310	0.409000	0.25649	0.533000	0.62120	AGA		0.388	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
REPIN1	29803	broad.mit.edu	37	7	150069842	150069842	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:150069842G>A	ENST00000425389.2	+	1	1590	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Silent_p.S561S|REPIN1_ENST00000397281.2_Silent_p.S504S|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.S504S|REPIN1_ENST00000540729.1_Silent_p.S504S	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	504					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGTCGCACCGGCGCA	0.667																																						uc010lpq.1																			0				pancreas(1)	1						c.(1510-1512)TCG>TCA		replication initiator 1 isoform 1							43.0	50.0	48.0					7																	150069842		2203	4299	6502	SO:0001819	synonymous_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069842G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1512G>A	7.37:g.150069842G>A						REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S	p.S504S	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	2001	+	Ovarian(565;0.183)|Melanoma(164;0.226)		504			C2H2-type 13.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	c.1512G>A	CCDS43677.1																																																																																				0.667	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374	
TEX15	56154	broad.mit.edu	37	8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:30701172G>A	ENST00000256246.2	-	1	5436	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1788					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343																																						uc003xil.2																			0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(5362-5364)CGA>TGA		testis expressed 15							75.0	68.0	71.0					8																	30701172		2203	4300	6503	SO:0001587	stop_gained	56154							g.chr8:30701172G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5362C>T	8.37:g.30701172G>A	ENSP00000256246:p.Arg1788*						p.R1788*	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5362	-			1788						Nonsense_Mutation	SNP	ENST00000256246.2	37	c.5362C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	45	11.274584	0.99540	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.27	4.36	0.52297	.	0.000000	0.39909	N	0.001224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1394	0.53989	0.0:0.0:0.6965:0.3034	.	.	.	.	X	1788	.	ENSP00000256246:R1788X	R	-	1	2	TEX15	30820714	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.785000	0.47782	2.448000	0.82819	0.650000	0.86243	CGA		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
DPY19L4	286148	broad.mit.edu	37	8	95792643	95792643	+	Splice_Site	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:95792643G>A	ENST00000414645.2	+	15	1731	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	544						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATGGAAAGAGGtaaaaaaat	0.299																																						uc003ygx.2																			0				ovary(2)	2						c.(1630-1632)GAG>GAA		dpy-19-like 4							40.0	40.0	40.0					8																	95792643		2198	4292	6490	SO:0001630	splice_region_variant	286148					integral to membrane		g.chr8:95792643G>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1632+1G>A	8.37:g.95792643G>A							p.E544E	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			15	1756	+	Breast(36;3.85e-06)		544					Q6ZW32|Q6ZW42|Q7Z329	Silent	SNP	ENST00000414645.2	37	c.1632G>A	CCDS34924.1																																																																																				0.299	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787	Silent
HAS2	3037	broad.mit.edu	37	8	122641443	122641443	+	Silent	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:122641443A>G	ENST00000303924.4	-	2	675	c.138T>C	c.(136-138)ttT>ttC	p.F46F		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	46					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATACAGTCCAAAAGAGAAAT	0.418																																						uc003yph.2																		HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(136-138)TTT>TTC		hyaluronan synthase 2							118.0	117.0	117.0					8																	122641443		2203	4300	6503	SO:0001819	synonymous_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641443A>G	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.138T>C	8.37:g.122641443A>G							p.F46F	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	676	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		46			Helical; Name=2; (Potential).		Q32MM3	Silent	SNP	ENST00000303924.4	37	c.138T>C	CCDS6335.1																																																																																				0.418	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328	
SPATA31C1	441452	broad.mit.edu	37	9	90536465	90536465	+	RNA	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:90536465C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTTCTGGGGGCGACCTCTGAG	0.512																																						uc010mqi.2																			0					0						c.(1642-1644)GCG>GTG		family with sequence similarity 75, member C1							16.0	19.0	18.0					9																	90536465		692	1591	2283			441452							g.chr9:90536465C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536465C>T						FAM75C1_uc004apq.3_Missense_Mutation_p.A531V	p.A548V	NM_001145124	NP_001138596					4	1672	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1643C>T																																																																																					0.512	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
CTSV	1515	broad.mit.edu	37	9	99799549	99799549	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:99799549C>T	ENST00000259470.5	-	4	630	c.381G>A	c.(379-381)acG>acA	p.T127T	CTSV_ENST00000538255.1_Silent_p.T127T|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	127					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										TCTTCACTGGCGTCACGTAGC	0.483																																						uc004awt.2																			0					0						c.(379-381)ACG>ACA		cathepsin L2 preproprotein							67.0	60.0	62.0					9																	99799549		2203	4300	6503	SO:0001819	synonymous_variant	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99799549C>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.381G>A	9.37:g.99799549C>T						CTSL2_uc010msi.2_Silent_p.T127T|CTSL2_uc004awu.2_Silent_p.T72T|CTSL2_uc010msj.1_Silent_p.T72T|CTSL2_uc010msk.2_Silent_p.T72T	p.T127T	NM_001333	NP_001324	O60911	CATL2_HUMAN			4	578	-		Acute lymphoblastic leukemia(62;0.0559)	127					O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.381G>A	CCDS6723.1																																																																																				0.483	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	
AK8	158067	broad.mit.edu	37	9	135702390	135702390	+	Missense_Mutation	SNP	C	C	T	rs375829164		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:135702390C>T	ENST00000298545.3	-	8	1129	c.608G>A	c.(607-609)cGt>cAt	p.R203H	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	203	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.R203H(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CACCATGAGACGGTTCTGGAT	0.517																																						uc004cbu.1																			2	Substitution - Missense(2)		NS(2)		0						c.(607-609)CGT>CAT		putative adenylate kinase-like protein C9orf98		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	207.0	195.0	199.0		608	5.3	1.0	9		199	0,8600		0,0,4300	no	missense	AK8	NM_152572.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	203/480	135702390	1,13005	2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702390C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.608G>A	9.37:g.135702390C>T	ENSP00000298545:p.Arg203His					C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	p.R203H	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	8	1164	-			203					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.608G>A	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393142	0.62066	2.27E-4	0.0	ENSG00000165695	ENST00000298545	T	0.70516	-0.49	5.34	5.34	0.76211	Adenylate kinase, active site lid domain (1);	0.120541	0.56097	D	0.000027	D	0.86514	0.5951	M	0.92507	3.315	0.35272	D	0.780516	D	0.89917	1.0	D	0.85130	0.997	D	0.91822	0.5468	10	0.72032	D	0.01	-15.9543	11.4936	0.50396	0.0:0.9181:0.0:0.0819	.	203	Q96MA6	KAD8_HUMAN	H	203	ENSP00000298545:R203H	ENSP00000298545:R203H	R	-	2	0	AK8	134692211	0.998000	0.40836	0.957000	0.39632	0.417000	0.31264	4.027000	0.57239	2.497000	0.84241	0.455000	0.32223	CGT		0.517	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572	
CACNA1B	774	broad.mit.edu	37	9	140881238	140881238	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:140881238A>G	ENST00000371372.1	+	15	2051	c.1906A>G	c.(1906-1908)Aac>Gac	p.N636D	CACNA1B_ENST00000371363.1_Missense_Mutation_p.N636D|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N637D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N636D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N637D	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	636					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCAGGTTCAACTTCCAGGA	0.602																																						uc004cog.2																			0				breast(3)|large_intestine(2)|ovary(1)	6						c.(1906-1908)AAC>GAC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						182.0	197.0	192.0					9																	140881238		2121	4234	6355	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140881238A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1906A>G	9.37:g.140881238A>G	ENSP00000360423:p.Asn636Asp					CACNA1B_uc011mfd.1_Missense_Mutation_p.N167D	p.N636D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	15	2051	+	all_cancers(76;0.166)		636			Extracellular (Potential).|II.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1906A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673801	0.47781	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.02	4.02	0.46733	.	0.212304	0.48767	D	0.000176	D	0.97315	0.9122	L	0.60957	1.885	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.50860	0.559;0.652	D	0.96431	0.9319	10	0.46703	T	0.11	.	10.2339	0.43270	0.8337:0.1663:0.0:0.0	.	636;636	B1AQK4;B1AQK6	.;.	D	636;636;636;637;637	ENSP00000360423:N636D;ENSP00000277551:N636D;ENSP00000360414:N636D;ENSP00000360408:N637D;ENSP00000360406:N637D	ENSP00000277551:N636D	N	+	1	0	CACNA1B	140001059	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.708000	0.68377	1.756000	0.51951	0.368000	0.22195	AAC		0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
ZRSR2	8233	broad.mit.edu	37	X	15841126	15841126	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:15841126G>A	ENST00000307771.7	+	11	1234	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	404					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCGTCACAGGGGGAAGAAATC	0.552			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	uc004cxg.3				Rec	yes		X	Xp22.1	8233		"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L					0				breast(3)	3						c.(1210-1212)GGG>AGG		U2 small nuclear RNA auxiliary factor 1-like 2							47.0	46.0	46.0					X																	15841126		2201	4299	6500	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15841126G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1210G>A	X.37:g.15841126G>A	ENSP00000303015:p.Gly404Arg						p.G404R	NM_005089	NP_005080	Q15696	U2AFM_HUMAN			11	1255	+	Hepatocellular(33;0.183)		404					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.1210G>A	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629816	0.28978	.	.	ENSG00000169249	ENST00000307771	D	0.85339	-1.97	5.35	2.05	0.26809	.	1.363860	0.04012	N	0.298332	T	0.74786	0.3762	L	0.29908	0.895	0.46317	D	0.998989	B	0.06786	0.001	B	0.04013	0.001	T	0.60505	-0.7250	10	0.12103	T	0.63	.	3.8797	0.09072	0.5191:0.1895:0.2914:0.0	.	404	Q15696	U2AFM_HUMAN	R	404	ENSP00000303015:G404R	ENSP00000303015:G404R	G	+	1	0	ZRSR2	15751047	0.961000	0.32948	0.029000	0.17559	0.982000	0.71751	3.039000	0.49791	0.500000	0.27991	0.506000	0.49869	GGG		0.552	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	
FTHL17	53940	broad.mit.edu	37	X	31089936	31089936	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:31089936G>A	ENST00000359202.3	-	1	234	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	45	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582																																						uc004dcl.1																			0					0						c.(133-135)GAC>GAT		ferritin, heavy polypeptide-like 17							92.0	79.0	84.0					X																	31089936		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089936G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.135C>T	X.37:g.31089936G>A							p.D45D	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	238	-			45			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.135C>T	CCDS14227.1																																																																																				0.582	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	
HUWE1	10075	broad.mit.edu	37	X	53591568	53591568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:53591568delC	ENST00000342160.3	-	50	7453	c.6996delG	c.(6994-6996)gggfs	p.G2332fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.G2332fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2332	Glu-rich.				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)			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						CCTCAGGCTGCCCAGCAATCA	0.562																																						uc004dsp.2																			0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(6994-6996)GGGfs		HECT, UBA and WWE domain containing 1							143.0	86.0	105.0					X																	53591568		2203	4300	6503	SO:0001589	frameshift_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:53591568delC	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.6996delG	X.37:g.53591568delC	ENSP00000340648:p.Gly2332fs					HUWE1_uc004dsn.2_Frame_Shift_Del_p.G1156fs	p.G2332fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			51	7398	-			2332			Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	ENST00000342160.3	37	c.6996delG	CCDS35301.1																																																																																				0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
FAM155B	27112	broad.mit.edu	37	X	68725733	68725733	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:68725733C>T	ENST00000252338.4	+	1	650	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	203						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACACCTACACGGTCTGGGAC	0.632																																						uc004dxk.2																			0				ovary(1)|breast(1)	2						c.(607-609)ACG>ATG		transmembrane protein 28							54.0	51.0	52.0					X																	68725733		2202	4300	6502	SO:0001583	missense	27112					integral to membrane		g.chrX:68725733C>T	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.608C>T	X.37:g.68725733C>T	ENSP00000252338:p.Thr203Met						p.T203M	NM_015686	NP_056501	O75949	F155B_HUMAN			1	656	+			203					B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	c.608C>T	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644885	0.67358	.	.	ENSG00000130054	ENST00000252338	T	0.13420	2.59	4.9	4.9	0.64082	.	0.080742	0.47093	D	0.000257	T	0.28632	0.0709	L	0.48642	1.525	0.47183	D	0.999348	D	0.89917	1.0	D	0.63703	0.917	T	0.01679	-1.1297	10	0.87932	D	0	-4.2179	14.5826	0.68302	0.0:1.0:0.0:0.0	.	203	O75949-2	.	M	203	ENSP00000252338:T203M	ENSP00000252338:T203M	T	+	2	0	FAM155B	68642458	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.039000	0.76544	2.023000	0.59567	0.464000	0.42555	ACG		0.632	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686	
AIFM1	9131	broad.mit.edu	37	X	129272643	129272643	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:129272643G>A	ENST00000287295.3	-	9	1122	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.R294W|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000535724.1_Missense_Mutation_p.R211W	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	298	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TTGACTTCCCGTGAAATCTTC	0.433																																						uc004evg.2																			0				ovary(4)|central_nervous_system(1)	5						c.(892-894)CGG>TGG		programmed cell death 8 isoform 1							115.0	103.0	107.0					X																	129272643		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129272643G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.892C>T	X.37:g.129272643G>A	ENSP00000287295:p.Arg298Trp					AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.R298W|AIFM1_uc004evh.2_Missense_Mutation_p.R294W|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	p.R298W	NM_004208	NP_004199	O95831	AIFM1_HUMAN			9	1070	-			298			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.892C>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832744	0.71258	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.49139	0.79;0.79;0.79	5.54	4.59	0.56863	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.110824	0.64402	D	0.000019	T	0.67297	0.2878	M	0.81802	2.56	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.844;0.921	T	0.71702	-0.4513	10	0.72032	D	0.01	-9.5066	11.6487	0.51275	0.0:0.0:0.7355:0.2645	.	298;294;298	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	W	294;211;298	ENSP00000315122:R294W;ENSP00000446113:R211W;ENSP00000287295:R298W	ENSP00000287295:R298W	R	-	1	2	AIFM1	129100324	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	3.421000	0.52742	2.306000	0.77630	0.600000	0.82982	CGG		0.433	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
GPR112	139378	broad.mit.edu	37	X	135431775	135431775	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:135431775C>T	ENST00000394143.1	+	6	6201	c.5910C>T	c.(5908-5910)gaC>gaT	p.D1970D	GPR112_ENST00000370652.1_Silent_p.D1970D|GPR112_ENST00000287534.4_Silent_p.D1907D|GPR112_ENST00000394141.1_Silent_p.D1765D|GPR112_ENST00000412101.1_Silent_p.D1765D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1970					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D1970D(1)		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)					CATTGGCTGACGTTAAGCACA	0.413																																						uc004ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5908-5910)GAC>GAT		G-protein coupled receptor 112							105.0	99.0	101.0					X																	135431775		2203	4299	6502	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431775C>T	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.5910C>T	X.37:g.135431775C>T						GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	p.D1970D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	6201	+	Acute lymphoblastic leukemia(192;0.000127)		1970			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.5910C>T	CCDS35409.1																																																																																				0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
SRPK3	26576	broad.mit.edu	37	X	153049211	153049211	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:153049211C>A	ENST00000370101.3	+	9	825	c.779C>A	c.(778-780)aCc>aAc	p.T260N	SRPK3_ENST00000489426.1_Missense_Mutation_p.T327N|SRPK3_ENST00000393786.3_Splice_Site_p.T259N|SRPK3_ENST00000370108.3_Splice_Site_p.T259N|SRPK3_ENST00000370104.1_Splice_Site_p.T259N|SRPK3_ENST00000370100.1_Splice_Site_p.T217N	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACAGCAGACCGGTAAGCTG	0.622																																					Esophageal Squamous(167;766 3400 32156)	uc004fil.2																			0				pancreas(2)|lung(1)	3						c.(778-780)ACC>AAC		serine arginine rich protein-specific kinase 3							36.0	37.0	37.0					X																	153049211		2200	4297	6497	SO:0001583	missense	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049211C>A	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.779C>A	X.37:g.153049211C>A	ENSP00000359119:p.Thr260Asn					SRPK3_uc004fik.2_Missense_Mutation_p.T326N|SRPK3_uc010nul.2_Missense_Mutation_p.T217N|SRPK3_uc004fin.2_Missense_Mutation_p.T259N|SRPK3_uc004fim.2_Missense_Mutation_p.T259N	p.T260N	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			9	811	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		260			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	c.779C>A	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	C	0.221	-1.028313	0.02045	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.54675	0.58;0.61;0.62;0.61;0.59;0.56	5.3	0.074	0.14393	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.737203	0.11423	N	0.565524	T	0.18551	0.0445	N	0.02111	-0.68	0.09310	N	0.999999	B;B;B;B;B	0.15141	0.012;0.0;0.004;0.0;0.0	B;B;B;B;B	0.14023	0.008;0.0;0.01;0.0;0.0	T	0.25779	-1.0122	10	0.08599	T	0.76	-0.214	3.7299	0.08489	0.3154:0.3142:0.0:0.3704	.	217;259;259;260;327	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	N	327;259;259;259;260;217	ENSP00000420058:T327N;ENSP00000377376:T259N;ENSP00000359122:T259N;ENSP00000359126:T259N;ENSP00000359119:T260N;ENSP00000359118:T217N	ENSP00000359118:T217N	T	+	2	0	SRPK3	152702405	0.000000	0.05858	0.033000	0.17914	0.526000	0.34562	-0.542000	0.06091	0.048000	0.15891	0.529000	0.55759	ACC		0.622	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370	
