#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
NKAIN1	79570	broad.mit.edu	37	1	31658176	31658176	+	Splice_Site	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:31658176T>C	ENST00000373736.2	-	3	199		c.e3-2		NKAIN1_ENST00000398657.2_Intron|NKAIN1_ENST00000263693.1_Splice_Site	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		GGCTGCATACTGGGGAAAGCA	0.587																																						uc010ogd.1																			0				ovary(1)	1						c.e3-1		Na+/K+ transporting ATPase interacting 1							34.0	28.0	30.0					1																	31658176		2203	4300	6503	SO:0001630	splice_region_variant	79570					integral to membrane|plasma membrane		g.chr1:31658176T>C	AK022712	CCDS339.1, CCDS339.2	1p35.2	2010-06-25	2007-10-04	2007-10-04	ENSG00000084628	ENSG00000084628		"""Na+/K+ transporting ATPase interacting"""	25743	protein-coding gene	gene with protein product		612871	"""family with sequence similarity 77, member C"""	FAM77C		17606467	Standard	NM_024522		Approved	FLJ12650	uc010ogd.2	Q4KMZ8	OTTHUMG00000003788	ENST00000373736.2:c.193-2A>G	1.37:g.31658176T>C						NKAIN1_uc001bsn.2_Splice_Site_p.Y21_splice|NKAIN1_uc010ogc.1_Intron	p.Y65_splice	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)	3	199	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)						A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7	Splice_Site	SNP	ENST00000373736.2	37	c.193_splice	CCDS339.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955463	0.73902	.	.	ENSG00000084628	ENST00000373736;ENST00000263693	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9588	0.64166	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NKAIN1	31430763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.613000	0.74192	1.965000	0.57142	0.459000	0.35465	.		0.587	NKAIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010655.2	NM_024522	Intron
KCNA2	3737	broad.mit.edu	37	1	111146955	111146955	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:111146955C>A	ENST00000485317.1	-	3	1123	c.450G>T	c.(448-450)tgG>tgT	p.W150C	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.W150C|KCNA2_ENST00000440270.1_Missense_Mutation_p.W150C|KCNA2_ENST00000369770.3_Missense_Mutation_p.W150C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	150					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CAAAGAGAAGCCACACTTGTC	0.473																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2																			0				ovary(1)	1						c.(448-450)TGG>TGT		potassium voltage-gated channel, shaker-related							60.0	61.0	61.0					1																	111146955		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146955C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.450G>T	1.37:g.111146955C>A	ENSP00000433109:p.Trp150Cys					KCNA2_uc009wfv.1_Missense_Mutation_p.W150C|KCNA2_uc009wfw.2_Missense_Mutation_p.W150C	p.W150C	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	946	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	150					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.450G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186861	0.57909	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89104	0.6620	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92613	0.6101	10	0.87932	D	0	.	20.0697	0.97716	0.0:1.0:0.0:0.0	.	150;150	Q86XG6;P16389	.;KCNA2_HUMAN	C	150	ENSP00000358785:W150C;ENSP00000433109:W150C;ENSP00000415257:W150C;ENSP00000314520:W150C	ENSP00000314520:W150C	W	-	3	0	KCNA2	110948478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.751000	0.94390	0.609000	0.83330	TGG		0.473	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974	
RYR2	6262	broad.mit.edu	37	1	237604722	237604722	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:237604722T>A	ENST00000366574.2	+	13	1426	c.1109T>A	c.(1108-1110)cTa>cAa	p.L370Q	RYR2_ENST00000542537.1_Missense_Mutation_p.L354Q|RYR2_ENST00000360064.6_Missense_Mutation_p.L368Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	370	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACACAGGCCTATGGCTTACT	0.373																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1108-1110)CTA>CAA		cardiac muscle ryanodine receptor							141.0	138.0	139.0					1																	237604722		1883	4119	6002	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604722T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1109T>A	1.37:g.237604722T>A	ENSP00000355533:p.Leu370Gln						p.L370Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1229	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	370			Cytoplasmic (By similarity).|MIR 5.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1109T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820226	0.71028	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87650	-2.28;-2.28;-2.28	5.34	5.34	0.76211	MIR motif (2);MIR (2);	0.000000	0.49305	D	0.000149	D	0.92277	0.7550	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93123	0.6526	10	0.87932	D	0	.	15.6012	0.76626	0.0:0.0:0.0:1.0	.	370	Q92736	RYR2_HUMAN	Q	370;368;354	ENSP00000355533:L370Q;ENSP00000353174:L368Q;ENSP00000443798:L354Q	ENSP00000353174:L368Q	L	+	2	0	RYR2	235671345	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.984000	0.63838	2.137000	0.66172	0.533000	0.62120	CTA		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
STAM	8027	broad.mit.edu	37	10	17735226	17735226	+	Silent	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:17735226A>G	ENST00000377524.3	+	6	665	c.450A>G	c.(448-450)gcA>gcG	p.A150A	STAM_ENST00000540523.1_Silent_p.A39A|RP11-390B4.3_ENST00000445235.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	150					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTAGGCTGCAGAACAAGCAA	0.408																																						uc001ipj.1																			0				large_intestine(1)|ovary(1)	2						c.(448-450)GCA>GCG		signal transducing adaptor molecule 1							125.0	123.0	123.0					10																	17735226		2203	4300	6503	SO:0001819	synonymous_variant	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17735226A>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.450A>G	10.37:g.17735226A>G						STAM_uc010qcf.1_Silent_p.A39A|STAM_uc009xjw.1_5'Flank	p.A150A	NM_003473	NP_003464	Q92783	STAM1_HUMAN			6	666	+			150					B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	37	c.450A>G	CCDS7122.1																																																																																				0.408	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473	
NEBL	10529	broad.mit.edu	37	10	21461321	21461321	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:21461321T>C	ENST00000417816.2	-	2	508	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	NEBL_ENST00000464278.1_5'UTR|NEBL-AS1_ENST00000417845.1_RNA|NEBL-AS1_ENST00000439097.1_RNA	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	97					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCATTACAATAGGGCTTCTT	0.438																																						uc001iqk.2																			0				ovary(2)	2						c.(154-156)TAT>TGT		nebulette non-muscle isoform							183.0	173.0	176.0					10																	21461321		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21461321T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.155A>G	10.37:g.21461321T>C	ENSP00000393896:p.Tyr52Cys						p.Y52C	NM_213569	NP_998734	O76041	NEBL_HUMAN			2	509	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	c.155A>G	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189486	0.57909	.	.	ENSG00000078114	ENST00000417816	D	0.91180	-2.8	5.54	4.4	0.53042	.	.	.	.	.	D	0.95230	0.8453	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.94951	0.8100	9	0.72032	D	0.01	.	11.2348	0.48933	0.0:0.0726:0.0:0.9274	.	52	Q70I54	.	C	52	ENSP00000393896:Y52C	ENSP00000393896:Y52C	Y	-	2	0	NEBL	21501327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	0.932000	0.37266	0.533000	0.62120	TAT		0.438	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393	
SVIL	6840	broad.mit.edu	37	10	29839574	29839574	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:29839574C>T	ENST00000355867.4	-	6	1531	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	SVIL_ENST00000375398.2_Missense_Mutation_p.R260Q|SVIL_ENST00000375400.3_Missense_Mutation_p.R260Q	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	260					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAGGGGCTCCGGGAGGCTGC	0.612																																						uc001iut.1																			0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(778-780)CGG>CAG		supervillin isoform 2							32.0	36.0	34.0					10																	29839574		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29839574C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.779G>A	10.37:g.29839574C>T	ENSP00000348128:p.Arg260Gln					SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	p.R260Q	NM_021738	NP_068506	O95425	SVIL_HUMAN			6	1532	-		Breast(68;0.103)	260					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.779G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883795	0.17467	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.43688	0.94;0.94;0.94	5.51	2.68	0.31781	.	0.209121	0.33772	N	0.004566	T	0.22322	0.0538	N	0.22421	0.69	0.30593	N	0.76133	B;B	0.33345	0.319;0.409	B;B	0.23419	0.046;0.045	T	0.14783	-1.0460	9	.	.	.	-5.443	8.2375	0.31636	0.1483:0.1463:0.7055:0.0	.	260;260	O95425-2;O95425	.;SVIL_HUMAN	Q	260	ENSP00000364549:R260Q;ENSP00000364547:R260Q;ENSP00000348128:R260Q	.	R	-	2	0	SVIL	29879580	0.981000	0.34729	0.095000	0.20976	0.039000	0.13416	1.800000	0.38833	0.302000	0.22762	0.655000	0.94253	CGG		0.612	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
KIAA1462	57608	broad.mit.edu	37	10	30315760	30315760	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:30315760G>A	ENST00000375377.1	-	3	3418	c.3317C>T	c.(3316-3318)gCg>gTg	p.A1106V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1106					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTGTCCCGCTCTCCGGAT	0.637																																						uc001iux.2																			0				ovary(4)	4						c.(3316-3318)GCG>GTG		hypothetical protein LOC57608							51.0	54.0	53.0					10																	30315760		1975	4164	6139	SO:0001583	missense	57608							g.chr10:30315760G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3317C>T	10.37:g.30315760G>A	ENSP00000364526:p.Ala1106Val					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A968V|KIAA1462_uc009xle.1_Missense_Mutation_p.A1106V	p.A1106V	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3376	-			1106					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3317C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756888	0.15846	.	.	ENSG00000165757	ENST00000375377	T	0.11385	2.78	4.49	0.185	0.15096	.	1.741910	0.02492	N	0.089560	T	0.05777	0.0151	N	0.25647	0.755	0.09310	N	1	B	0.32893	0.389	B	0.22386	0.039	T	0.21314	-1.0249	10	0.06625	T	0.88	-0.0167	3.1123	0.06363	0.2234:0.1313:0.5124:0.1329	.	1106	Q9P266	K1462_HUMAN	V	1106	ENSP00000364526:A1106V	ENSP00000364526:A1106V	A	-	2	0	KIAA1462	30355766	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.326000	0.02685	-0.143000	0.11334	-1.598000	0.00824	GCG		0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(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)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	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	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	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		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	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	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)CGA>TGA		phosphatase and tensin homolog							155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	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.chr10:89717672C>T	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.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R233*	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)	8	1728	+		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)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ANO3	63982	broad.mit.edu	37	11	26569054	26569054	+	Missense_Mutation	SNP	G	G	A	rs566590577		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:26569054G>A	ENST00000256737.3	+	12	2098	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	ANO3_ENST00000531568.1_Missense_Mutation_p.V270I|ANO3_ENST00000537978.1_Missense_Mutation_p.V400I|ANO3_ENST00000525139.1_Missense_Mutation_p.V400I|ANO3_ENST00000529242.1_3'UTR	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	416					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGTTTGTGCGTTTTCTTCTA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17574	0.0		0.0	False		,,,				2504	0.001					uc001mqt.3																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1246-1248)GTT>ATT		transmembrane protein 16C							310.0	279.0	290.0					11																	26569054		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26569054G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1246G>A	11.37:g.26569054G>A	ENSP00000256737:p.Val416Ile					ANO3_uc010rdr.1_Missense_Mutation_p.V400I|ANO3_uc010rds.1_Missense_Mutation_p.V255I|ANO3_uc010rdt.1_Missense_Mutation_p.V270I	p.V416I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			12	1391	+			416			Helical; (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1246G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122042	0.94429	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.957	T	0.77335	-0.2626	10	0.54805	T	0.06	.	19.5765	0.95446	0.0:0.0:1.0:0.0	.	318;416	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	400;400;416;318;270	ENSP00000440737:V400I;ENSP00000432576:V400I;ENSP00000256737:V416I;ENSP00000432394:V270I	ENSP00000256737:V416I	V	+	1	0	ANO3	26525630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.781000	0.99029	2.617000	0.88574	0.585000	0.79938	GTT		0.373	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	rs369729738		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																						uc010ril.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(706-708)CGC>TGC		olfactory receptor, family 5, subfamily D,		C	CYS/ARG	0,4400		0,0,2200	134.0	119.0	124.0		706	-7.6	0.0	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5D13	NM_001001967.1	180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	236/315	55541619	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541619C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>T	11.37:g.55541619C>T	ENSP00000354800:p.Arg236Cys						p.R236C	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	706	+		all_epithelial(135;0.196)	236			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.706C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680976	0.29872	0.0	1.16E-4	ENSG00000198877	ENST00000361760	T	0.00337	8.05	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	N	0.614455	T	0.00300	0.0009	M	0.91663	3.23	0.09310	N	1	B	0.24823	0.112	B	0.24269	0.052	T	0.42783	-0.9431	10	0.66056	D	0.02	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	C	236	ENSP00000354800:R236C	ENSP00000354800:R236C	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR10V1	390201	broad.mit.edu	37	11	59481032	59481032	+	Missense_Mutation	SNP	G	G	A	rs144835634		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:59481032G>A	ENST00000307552.2	-	1	305	c.287C>T	c.(286-288)aCg>aTg	p.T96M	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCCACATCCCGTGATGGAAAC	0.473																																						uc001nof.1																			0					0						c.(286-288)ACG>ATG		olfactory receptor, family 10, subfamily V,		G	MET/THR	1,4401	2.1+/-5.4	0,1,2200	72.0	67.0	68.0		287	0.3	0.1	11	dbSNP_134	68	0,8590		0,0,4295	no	missense	OR10V1	NM_001005324.1	81	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	96/310	59481032	1,12991	2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59481032G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.287C>T	11.37:g.59481032G>A	ENSP00000302199:p.Thr96Met						p.T96M	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	287	-			96			Extracellular (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.287C>T	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373860	0.24857	2.27E-4	0.0	ENSG00000172289	ENST00000307552	T	0.00402	7.56	4.36	0.332	0.15938	GPCR, rhodopsin-like superfamily (1);	0.809497	0.10910	N	0.620657	T	0.00271	0.0008	N	0.20483	0.58	0.09310	N	0.999999	D	0.54207	0.965	B	0.44224	0.444	T	0.56661	-0.7942	10	0.49607	T	0.09	.	8.3794	0.32461	0.3461:0.0:0.6539:0.0	.	96	Q8NGI7	O10V1_HUMAN	M	96	ENSP00000302199:T96M	ENSP00000302199:T96M	T	-	2	0	OR10V1	59237608	0.000000	0.05858	0.052000	0.19188	0.851000	0.48451	0.007000	0.13174	-0.009000	0.14296	-0.270000	0.10280	ACG		0.473	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324	
CAPN1	823	broad.mit.edu	37	11	64953733	64953733	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:64953733G>A	ENST00000527323.1	+	5	923	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CAPN1_ENST00000533129.1_Missense_Mutation_p.R228H|CAPN1_ENST00000533820.1_Missense_Mutation_p.R228H|CAPN1_ENST00000279247.6_Missense_Mutation_p.R228H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R228H			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	228	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R228H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TACGAGTTGCGCAAGGCTCCC	0.637																																						uc009yqd.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(682-684)CGC>CAC		calpain 1, large subunit							39.0	45.0	43.0					11																	64953733		2001	4160	6161	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64953733G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.683G>A	11.37:g.64953733G>A	ENSP00000431984:p.Arg228His					CAPN1_uc001odf.1_Missense_Mutation_p.R228H|CAPN1_uc001odg.1_Missense_Mutation_p.R228H|CAPN1_uc010roa.1_5'UTR	p.R228H	NM_005186	NP_005177	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	6	794	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	228			Calpain catalytic.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.683G>A	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708746	0.30322	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323;ENST00000526468	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	4.53	2.63	0.31362	Peptidase C2, calpain, catalytic domain (3);	0.479915	0.19439	N	0.114239	D	0.87120	0.6098	M	0.65498	2.005	0.23754	N	0.996932	B	0.33883	0.43	B	0.39531	0.302	T	0.79983	-0.1573	10	0.87932	D	0	.	6.1585	0.20350	0.3291:0.0:0.6709:0.0	.	228	P07384	CAN1_HUMAN	H	228;228;228;228;174;228;123	ENSP00000435272:R228H;ENSP00000431686:R228H;ENSP00000434176:R228H;ENSP00000279247:R228H;ENSP00000431984:R228H;ENSP00000433366:R123H	ENSP00000259755:R174H	R	+	2	0	CAPN1	64710309	0.000000	0.05858	0.543000	0.28128	0.210000	0.24377	0.498000	0.22530	0.353000	0.24079	0.563000	0.77884	CGC		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		
TMEM123	114908	broad.mit.edu	37	11	102272678	102272678	+	Silent	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:102272678A>G	ENST00000398136.2	-	3	837	c.417T>C	c.(415-417)agT>agC	p.S139S	TMEM123_ENST00000361236.3_Silent_p.S120S|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Silent_p.S51S	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	139	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		ATGTCACTGAACTATTGTGGG	0.363																																						uc001pha.2																			0				breast(2)	2						c.(415-417)AGT>AGC		transmembrane protein 123 precursor							364.0	332.0	342.0					11																	102272678		1976	4160	6136	SO:0001819	synonymous_variant	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272678A>G	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.417T>C	11.37:g.102272678A>G						TMEM123_uc009yxc.2_Silent_p.S120S	p.S139S	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	838	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	139			Thr-rich.|Extracellular (Potential).		Q8IWS2|Q96QV2	Silent	SNP	ENST00000398136.2	37	c.417T>C	CCDS41702.1																																																																																				0.363	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932	
RAPGEF3	10411	broad.mit.edu	37	12	48143197	48143197	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:48143197C>A	ENST00000449771.2	-	10	1105	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.K339N|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.K297N|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.K297N|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.K297N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.K297N|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.K339N			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	339					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGAAGTCCTGCTTGTCCACAC	0.562																																						uc009zkp.2																			0				lung(2)|skin(1)|pancreas(1)	4						c.(889-891)AAG>AAT		Rap guanine nucleotide exchange factor 3 isoform							118.0	108.0	111.0					12																	48143197		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48143197C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1017G>T	12.37:g.48143197C>A	ENSP00000395708:p.Lys339Asn					RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.K297N|RAPGEF3_uc001rpz.3_Missense_Mutation_p.K339N|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N	p.K297N	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	9	1331	-	Lung SC(27;0.192)		297					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.891G>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578608	0.65878	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	4.28	3.39	0.38822	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.82132	2.575	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.996	D;P;D	0.80764	0.994;0.872;0.938	D	0.91623	0.5312	10	0.87932	D	0	.	11.0257	0.47743	0.0:0.9078:0.0:0.0922	.	351;339;339	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	N	297;339;297;297;297;339;351;297;339	ENSP00000384521:K297N;ENSP00000395708:K339N;ENSP00000448619:K297N;ENSP00000171000:K297N;ENSP00000373864:K339N;ENSP00000448480:K297N;ENSP00000378764:K339N	ENSP00000171000:K297N	K	-	3	2	RAPGEF3	46429464	0.993000	0.37304	1.000000	0.80357	0.949000	0.60115	0.310000	0.19356	1.169000	0.42739	0.650000	0.86243	AAG		0.562	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	
SRRM4	84530	broad.mit.edu	37	12	119588965	119588965	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:119588965C>G	ENST00000267260.4	+	10	1608	c.1220C>G	c.(1219-1221)tCc>tGc	p.S407C		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	407	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCGTCCCGATCCCCAAATCCC	0.572																																						uc001txa.1																			0				ovary(2)	2						c.(1219-1221)TCC>TGC		KIAA1853 protein							79.0	83.0	81.0					12																	119588965		1954	4142	6096	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119588965C>G	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1220C>G	12.37:g.119588965C>G	ENSP00000267260:p.Ser407Cys						p.S407C	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			10	1512	+			407			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1220C>G	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120034	0.77323	.	.	ENSG00000139767	ENST00000267260	T	0.31510	1.49	5.58	5.58	0.84498	.	0.199391	0.43416	D	0.000575	T	0.49983	0.1589	L	0.52573	1.65	0.40843	D	0.983687	D	0.89917	1.0	D	0.69479	0.964	T	0.34453	-0.9828	9	.	.	.	-10.0095	18.1275	0.89590	0.0:1.0:0.0:0.0	.	407	A7MD48	SRRM4_HUMAN	C	407	ENSP00000267260:S407C	.	S	+	2	0	SRRM4	118073348	0.988000	0.35896	0.994000	0.49952	0.969000	0.65631	4.920000	0.63390	2.774000	0.95407	0.655000	0.94253	TCC		0.572	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
RIMBP2	23504	broad.mit.edu	37	12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:130898833C>T	ENST00000261655.4	-	14	2652	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	830					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572																																						uc001uil.2																			0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2488-2490)CGC>CAC		RIM-binding protein 2							60.0	68.0	65.0					12																	130898833		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130898833C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2489G>A	12.37:g.130898833C>T	ENSP00000261655:p.Arg830His						p.R830H	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	14	2653	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	830					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2489G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174325	0.21704	.	.	ENSG00000060709	ENST00000261655	T	0.21191	2.02	4.49	1.61	0.23674	.	0.463790	0.20860	N	0.084374	T	0.09247	0.0228	N	0.11560	0.145	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.26121	-1.0112	10	0.16420	T	0.52	-7.1662	8.0071	0.30332	0.0:0.5343:0.0:0.4657	.	830	O15034	RIMB2_HUMAN	H	830	ENSP00000261655:R830H	ENSP00000261655:R830H	R	-	2	0	RIMBP2	129464786	0.011000	0.17503	0.469000	0.27204	0.517000	0.34286	0.136000	0.15974	0.093000	0.17368	0.650000	0.86243	CGC		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	FGF14_ENST00000376131.4_Missense_Mutation_p.T229M|ITGBL1_ENST00000415285.1_3'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473																																						uc001vpe.2																			2	Substitution - Missense(2)		large_intestine(2)	ovary(2)|lung(1)|large_intestine(1)	4						c.(670-672)ACG>ATG		fibroblast growth factor 14 isoform 1A							267.0	201.0	224.0					13																	102375254		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375254G>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met					FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank	p.T224M	NM_004115	NP_004106	Q92915	FGF14_HUMAN			5	671	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		224					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.671C>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2		
C14orf39	317761	broad.mit.edu	37	14	60951623	60951623	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:60951623C>T	ENST00000321731.3	-	3	241	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	28					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATCATCTCTTCTTTAGTACTT	0.264																																						uc001xez.3																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(82-84)GAA>AAA		hypothetical protein LOC317761							78.0	85.0	83.0					14																	60951623		2201	4293	6494	SO:0001583	missense	317761							g.chr14:60951623C>T	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.82G>A	14.37:g.60951623C>T	ENSP00000324920:p.Glu28Lys					C14orf39_uc010apo.2_5'UTR	p.E28K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	3	192	-			28					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.82G>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131345	0.77549	.	.	ENSG00000179008	ENST00000321731;ENST00000556799	T	0.30981	1.51	4.98	4.98	0.66077	.	0.088643	0.48767	D	0.000172	T	0.37517	0.1006	L	0.59436	1.845	0.38292	D	0.942731	P	0.50272	0.933	P	0.46452	0.517	T	0.44159	-0.9346	10	0.72032	D	0.01	-4.2083	14.1128	0.65134	0.0:1.0:0.0:0.0	.	28	Q8N1H7	S6OS1_HUMAN	K	28	ENSP00000324920:E28K	ENSP00000324920:E28K	E	-	1	0	C14orf39	60021376	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.838000	0.55828	2.480000	0.83734	0.655000	0.94253	GAA		0.264	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
DLK1	8788	broad.mit.edu	37	14	101201218	101201218	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:101201218C>T	ENST00000341267.4	+	5	1379	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	DLK1_ENST00000331224.6_Silent_p.G306G|RP11-566J3.4_ENST00000608876.1_lincRNA	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	379					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGAGGCCGGCGACGAGGAGA	0.552																																						uc001yhs.3																			0				ovary(2)|breast(1)|skin(1)	4						c.(1135-1137)GGC>GGT		delta-like 1 homolog precursor							86.0	87.0	87.0					14																	101201218		2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201218C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.1137C>T	14.37:g.101201218C>T						DLK1_uc001yhu.3_Silent_p.G306G	p.G379G	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	1290	+		Melanoma(154;0.155)	379			Cytoplasmic (Potential).		P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.1137C>T	CCDS9963.1																																																																																				0.552	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1		
TDRD9	122402	broad.mit.edu	37	14	104508512	104508512	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:104508512A>C	ENST00000409874.4	+	34	4010	c.3962A>C	c.(3961-3963)cAg>cCg	p.Q1321P	TDRD9_ENST00000339063.5_Missense_Mutation_p.Q1130P	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1321					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTGCCCGTCAGAAGCTTTTA	0.478																																						uc001yom.3																			0				ovary(2)|central_nervous_system(1)	3						c.(3961-3963)CAG>CCG		tudor domain containing 9							101.0	93.0	96.0					14																	104508512		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104508512A>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.3962A>C	14.37:g.104508512A>C	ENSP00000387303:p.Gln1321Pro					TDRD9_uc001yon.3_Missense_Mutation_p.Q868P	p.Q1321P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			34	3992	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	1321					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.3962A>C	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	A	7.635	0.679617	0.14907	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.04015	3.85;3.73	4.5	2.06	0.26882	.	0.280957	0.24518	U	0.037835	T	0.07548	0.0190	M	0.62723	1.935	0.21782	N	0.999543	B;P	0.49559	0.232;0.925	B;P	0.44860	0.126;0.462	T	0.16778	-1.0391	10	0.72032	D	0.01	.	8.0232	0.30421	0.8229:0.0:0.1771:0.0	.	1130;1321	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	P	1321;1130	ENSP00000387303:Q1321P;ENSP00000343545:Q1130P	ENSP00000343545:Q1130P	Q	+	2	0	TDRD9	103578265	1.000000	0.71417	0.766000	0.31476	0.121000	0.20230	3.574000	0.53863	0.196000	0.20367	0.533000	0.62120	CAG		0.478	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
TGM5	9333	broad.mit.edu	37	15	43552356	43552356	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:43552356C>T	ENST00000220420.5	-	3	337	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	110					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A110A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GACCCACGGCCGCCGTGGGAG	0.617																																						uc001zrd.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(328-330)GCG>GCA		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						55.0	64.0	61.0					15																	43552356		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552356C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.330G>A	15.37:g.43552356C>T						TGM5_uc001zre.1_Intron	p.A110A	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	3	338	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	110					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.330G>A	CCDS32212.1																																																																																				0.617	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
DET1	55070	broad.mit.edu	37	15	89056199	89056199	+	Nonsense_Mutation	SNP	G	G	A	rs182003477		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89056199G>A	ENST00000268148.8	-	5	1781	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	DET1_ENST00000564406.1_Nonsense_Mutation_p.R557*|DET1_ENST00000444300.1_Nonsense_Mutation_p.R557*|RP11-97O12.7_ENST00000606219.1_RNA	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	546						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGCAGTGTCGCATATGGAAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20527	0.0		0.001	False		,,,				2504	0.0					uc002bmr.2																			0				lung(1)|pancreas(1)	2						c.(1636-1638)CGA>TGA		de-etiolated 1 isoform 2							97.0	94.0	95.0					15																	89056199		2016	4175	6191	SO:0001587	stop_gained	55070					nucleus		g.chr15:89056199G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1636C>T	15.37:g.89056199G>A	ENSP00000268148:p.Arg546*					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Nonsense_Mutation_p.R557*	p.R546*	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		5	1788	-	Lung NSC(78;0.105)|all_lung(78;0.182)		546					B3KNN6|Q2VPC0|Q9NWD5	Nonsense_Mutation	SNP	ENST00000268148.8	37	c.1636C>T	CCDS45344.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	38	6.944445	0.97952	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1642	6.1081	0.20086	0.1425:0.0:0.5:0.3575	.	.	.	.	X	557;546	.	ENSP00000268148:R546X	R	-	1	2	DET1	86857203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.196000	0.58407	0.895000	0.36342	0.655000	0.94253	CGA		0.498	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996	
DET1	55070	broad.mit.edu	37	15	89073948	89073948	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89073948C>T	ENST00000268148.8	-	2	1134	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000564406.1_Missense_Mutation_p.R341Q|DET1_ENST00000444300.1_Missense_Mutation_p.R341Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	330						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTTCCACATTCGCAGCTGCCG	0.493																																						uc002bmr.2																			0				lung(1)|pancreas(1)	2						c.(988-990)CGA>CAA		de-etiolated 1 isoform 2							44.0	47.0	46.0					15																	89073948		1938	4121	6059	SO:0001583	missense	55070					nucleus		g.chr15:89073948C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.989G>A	15.37:g.89073948C>T	ENSP00000268148:p.Arg330Gln					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R341Q	p.R330Q	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	1141	-	Lung NSC(78;0.105)|all_lung(78;0.182)		330					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.989G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231908	0.79688	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.65	5.65	0.86999	.	0.047665	0.85682	D	0.000000	T	0.78013	0.4217	M	0.76328	2.33	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.63793	0.891;0.918	T	0.75508	-0.3293	9	0.39692	T	0.17	-36.1997	18.891	0.92403	0.0:1.0:0.0:0.0	.	330;341	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	341;330	.	ENSP00000268148:R330Q	R	-	2	0	DET1	86874952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.045000	0.76585	2.941000	0.99782	0.655000	0.94253	CGA		0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996	
DNM1P47	100216544	broad.mit.edu	37	15	102292767	102292767	+	RNA	SNP	C	C	T	rs113047734		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:102292767C>T	ENST00000561463.1	+	0	813									DNM1 pseudogene 47																		CACAGCGGCGCGACGAGATGC	0.597																																						uc010usj.1																			0											c.(355-357)CGA>TGA		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102292767C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292767C>T						uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank	p.R119*							4	414	+									Nonsense_Mutation	SNP	ENST00000561463.1	37	c.355C>T																																																																																					0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						uc010usj.1																			1	Substitution - Missense(1)		kidney(1)								c.(373-375)CAG>GAG		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G						uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank	p.Q125E							4	432	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.373C>G																																																																																					0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
ITGAX	3687	broad.mit.edu	37	16	31368588	31368588	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:31368588C>T	ENST00000268296.4	+	5	454	c.333C>T	c.(331-333)acC>acT	p.T111T	ITGAX_ENST00000562522.1_Silent_p.T111T|ITGAX_ENST00000562918.1_Intron	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	111					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCGGCCCCACCGTGCACCACG	0.687																																						uc002ebu.1																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(331-333)ACC>ACT		integrin alpha X precursor																																				SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31368588C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.333C>T	16.37:g.31368588C>T						ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebt.2_Silent_p.T111T	p.T111T	NM_000887	NP_000878	P20702	ITAX_HUMAN			5	400	+			111			FG-GAP 2.|Extracellular (Potential).		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.333C>T	CCDS10711.1																																																																																				0.687	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
DRC7	84229	broad.mit.edu	37	16	57760043	57760043	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:57760043G>A	ENST00000360716.3	+	14	2043	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	CCDC135_ENST00000394337.4_Missense_Mutation_p.V608M|CCDC135_ENST00000336825.8_Missense_Mutation_p.V543M			Q8IY82	CC135_HUMAN		608					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCAGAGCGCGTGTTTCTGGT	0.627																																						uc002emi.2																			0				central_nervous_system(1)	1						c.(1822-1824)GTG>ATG		coiled-coil domain containing 135							55.0	47.0	50.0					16																	57760043		2198	4299	6497	SO:0001583	missense	84229					cytoplasm		g.chr16:57760043G>A																												ENST00000360716.3:c.1822G>A	16.37:g.57760043G>A	ENSP00000353942:p.Val608Met					CCDC135_uc002emj.2_Missense_Mutation_p.V608M|CCDC135_uc002emk.2_Missense_Mutation_p.V543M	p.V608M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			13	1911	+			608					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1822G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	9.276	1.046944	0.19748	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11063	2.99;2.81;2.99	4.87	-0.0454	0.13851	.	0.710719	0.13394	N	0.391176	T	0.14485	0.0350	L	0.60455	1.87	0.09310	N	0.999994	D;D	0.61697	0.989;0.99	P;P	0.50136	0.606;0.632	T	0.12451	-1.0547	10	0.59425	D	0.04	-24.2572	5.5075	0.16862	0.3357:0.0:0.5277:0.1366	.	543;608	Q8IY82-2;Q8IY82	.;CC135_HUMAN	M	608;543;608	ENSP00000377869:V608M;ENSP00000338938:V543M;ENSP00000353942:V608M	ENSP00000338938:V543M	V	+	1	0	CCDC135	56317544	0.176000	0.23096	0.378000	0.26068	0.076000	0.17211	0.683000	0.25349	0.118000	0.18165	0.655000	0.94253	GTG		0.627	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
ACADVL	37	broad.mit.edu	37	17	7121951	7121951	+	5'Flank	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:7121951C>G	ENST00000356839.5	+	0	0				DLG4_ENST00000399510.2_Missense_Mutation_p.R9S|DLG4_ENST00000302955.6_5'Flank|ACADVL_ENST00000543245.2_Intron|DLG4_ENST00000399506.2_5'Flank|ACADVL_ENST00000350303.5_5'Flank|DLG4_ENST00000485100.1_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AGAGGGCTGACCTGGGAGCTA	0.592																																						uc002get.3																			0				ovary(1)|breast(1)	2						c.(25-27)AGG>AGC		post-synaptic density protein 95 isoform 1							22.0	30.0	27.0					17																	7121951		2103	4204	6307	SO:0001631	upstream_gene_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7121951C>G	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157		17.37:g.7121951C>G	Exception_encountered					DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Missense_Mutation_p.R9S|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank	p.R9S	NM_001365	NP_001356	P78352	DLG4_HUMAN			2	1228	-			Error:Variant_position_missing_in_P78352_after_alignment					B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.27G>C	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775895	0.49786	.	.	ENSG00000132535	ENST00000399510;ENST00000293813;ENST00000539674	T	0.13307	2.6	4.96	1.81	0.25067	.	.	.	.	.	T	0.12944	0.0314	N	0.08118	0	0.80722	D	1	B;P	0.37500	0.0;0.597	B;P	0.55345	0.0;0.774	T	0.24190	-1.0167	9	0.87932	D	0	.	4.5702	0.12207	0.1754:0.6373:0.0:0.1873	.	9;9	B9EGL1;P78352-2	.;.	S	9	ENSP00000382428:R9S	ENSP00000293813:R9S	R	-	3	2	DLG4	7062675	0.895000	0.30542	1.000000	0.80357	0.957000	0.61999	-0.038000	0.12144	0.679000	0.31345	0.549000	0.68633	AGG		0.592	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018	
C17orf102	400591	broad.mit.edu	37	17	32905952	32905952	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:32905952G>T	ENST00000357754.1	-	1	436	c.348C>A	c.(346-348)aaC>aaA	p.N116K	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	116										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAATAAATAGGTTTCCCACAG	0.607																																						uc002hie.1																			0				ovary(1)	1						c.(346-348)AAC>AAA		hypothetical protein LOC400591							120.0	129.0	126.0					17																	32905952		1905	4116	6021	SO:0001583	missense	400591							g.chr17:32905952G>T		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.348C>A	17.37:g.32905952G>T	ENSP00000350392:p.Asn116Lys					TMEM132E_uc002hif.2_5'Flank	p.N116K	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN			1	437	-			116					A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.348C>A	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	g	5.249	0.231356	0.09969	.	.	ENSG00000197322	ENST00000357754	T	0.36699	1.24	3.4	-1.88	0.07713	.	4.094370	0.00725	N	0.000907	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25082	-1.0142	10	0.87932	D	0	.	1.6498	0.02769	0.1573:0.1223:0.4216:0.2988	.	116	A2RUQ5	CQ102_HUMAN	K	116	ENSP00000350392:N116K	ENSP00000350392:N116K	N	-	3	2	C17orf102	29930065	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.247000	0.02893	-0.158000	0.11040	-0.739000	0.03532	AAC		0.607	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454	
GGNBP2	79893	broad.mit.edu	37	17	34943625	34943625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:34943625delT	ENST00000304718.4	+	13	2156	c.1840delT	c.(1840-1842)ttgfs	p.L614fs		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	614					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGAAACGTTGTTTGGTCC	0.463																																						uc002hnb.2																			0				ovary(2)	2						c.(1840-1842)TTGfs		zinc finger protein 403							212.0	202.0	205.0					17																	34943625		2203	4300	6503	SO:0001589	frameshift_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34943625delT	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1840delT	17.37:g.34943625delT	ENSP00000307617:p.Leu614fs						p.L614fs	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	13	2089	+		Breast(25;0.00957)|Ovarian(249;0.17)	614					B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Del	DEL	ENST00000304718.4	37	c.1840delT	CCDS11314.1																																																																																				0.463	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	
SMG8	55181	broad.mit.edu	37	17	57292254	57292254	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:57292254T>G	ENST00000543872.2	+	5	3131	c.2867T>G	c.(2866-2868)tTt>tGt	p.F956C	SMG8_ENST00000300917.5_Missense_Mutation_p.F956C|CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.F75C			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	956					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTTTTGAGATTTCCTTATGCA	0.473																																						uc002ixi.2																			0					0						c.(2866-2868)TTT>TGT		SMG8 protein							135.0	120.0	125.0					17																	57292254		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57292254T>G	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2867T>G	17.37:g.57292254T>G	ENSP00000438748:p.Phe956Cys						p.F956C	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			4	2909	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		956					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2867T>G	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240529	0.79912	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.50277	0.75;0.75	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.68187	-0.5475	10	0.72032	D	0.01	-17.5195	15.2021	0.73147	0.0:0.0:0.0:1.0	.	956	Q8ND04	SMG8_HUMAN	C	956	ENSP00000300917:F956C;ENSP00000438748:F956C	ENSP00000300917:F956C	F	+	2	0	SMG8	54647036	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.471000	0.80985	2.186000	0.69663	0.459000	0.35465	TTT		0.473	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
CTAGE1	64693	broad.mit.edu	37	18	19995570	19995570	+	5'Flank	SNP	T	T	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:19995570T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R735S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAATGCAGGTCTTGGGGGAC	0.483																																						uc002ktv.1																			0				ovary(1)	1						c.(2203-2205)AGA>AGT		cutaneous T-cell lymphoma-associated antigen 1							27.0	31.0	29.0					18																	19995570		2094	4247	6341	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995570T>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995570T>A	Exception_encountered						p.R735S	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	2309	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		735			Pro-rich.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.2205A>T		.	.	.	.	.	.	.	.	.	.	T	8.543	0.873712	0.17322	.	.	ENSG00000212710	ENST00000391403	T	0.37915	1.17	0.614	0.614	0.17603	.	.	.	.	.	T	0.32556	0.0833	M	0.80028	2.48	0.09310	N	1	P	0.34684	0.463	B	0.20955	0.032	T	0.19160	-1.0314	7	.	.	.	.	.	.	.	.	735	Q96RT6	CTGE2_HUMAN	S	735	ENSP00000375220:R735S	.	R	-	3	2	CTAGE1	18249568	0.999000	0.42202	0.030000	0.17652	0.008000	0.06430	1.928000	0.40104	0.486000	0.27676	0.248000	0.18094	AGA		0.483	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241	
TCEB3B	51224	broad.mit.edu	37	18	44560403	44560403	+	Silent	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:44560403T>C	ENST00000332567.4	-	1	1585	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	411					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCTTTCCTTTGTTTATCTC	0.502																																						uc002lcr.1																			0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1231-1233)CAA>CAG		elongin A2							120.0	105.0	110.0					18																	44560403		2203	4300	6503	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560403T>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1233A>G	18.37:g.44560403T>C						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.Q411Q	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1586	-			411					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.1233A>G	CCDS11932.1																																																																																				0.502	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
MALT1	10892	broad.mit.edu	37	18	56400716	56400716	+	Frame_Shift_Del	DEL	A	A	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:56400716delA	ENST00000348428.3	+	11	1568	c.1310delA	c.(1309-1311)gaafs	p.E437fs	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Del_p.E426fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	437	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TATAGGTCTGAAAATTGTCTG	0.348			T	BIRC3	MALT																																	uc002lhm.1				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1309-1311)GAAfs		mucosa associated lymphoid tissue lymphoma							105.0	111.0	109.0					18																	56400716		2203	4300	6503	SO:0001589	frameshift_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56400716delA		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1310delA	18.37:g.56400716delA	ENSP00000319279:p.Glu437fs					MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs	p.E437fs	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			11	1568	+			437			Caspase-like.		Q9NTB7|Q9ULX4	Frame_Shift_Del	DEL	ENST00000348428.3	37	c.1310delA	CCDS11967.1																																																																																				0.348	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
TNFRSF11A	8792	broad.mit.edu	37	18	60025550	60025550	+	Missense_Mutation	SNP	C	C	T	rs376096275		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:60025550C>T	ENST00000586569.1	+	5	535	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.T166M	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	166					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTTCCTCCACGGACAAATGC	0.448																																						uc002lin.2																			0				breast(2)|lung(1)	3						c.(496-498)ACG>ATG		tumor necrosis factor receptor superfamily,		C	MET/THR	0,4406		0,0,2203	132.0	125.0	127.0		497	1.3	0.2	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF11A	NM_003839.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	166/617	60025550	1,13005	2203	4300	6503	SO:0001583	missense	8792	Paget_Disease_of_Bone			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025550C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.497C>T	18.37:g.60025550C>T	ENSP00000465500:p.Thr166Met					TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T166M	p.T166M	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			5	535	+		Colorectal(73;0.188)	166			TNFR-Cys 4.|Extracellular (Potential).		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.497C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	7.527	0.657875	0.14645	0.0	1.16E-4	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.63913	-0.07	5.11	1.31	0.21738	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.469142	0.23396	N	0.048628	T	0.51075	0.1653	M	0.79123	2.44	0.25966	N	0.982565	P;P	0.52692	0.904;0.955	B;B	0.28011	0.085;0.085	T	0.51639	-0.8680	9	.	.	.	-6.7304	9.899	0.41335	0.0:0.7574:0.0:0.2426	.	188;166	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	M	188;166	ENSP00000269485:T166M	.	T	+	2	0	TNFRSF11A	58176530	0.108000	0.22018	0.191000	0.23289	0.267000	0.26476	0.319000	0.19522	0.115000	0.18071	0.557000	0.71058	ACG		0.448	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
TJP3	27134	broad.mit.edu	37	19	3730053	3730053	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3730053C>T	ENST00000541714.2	+	4	648	c.186C>T	c.(184-186)aaC>aaT	p.N62N	TJP3_ENST00000589378.1_Silent_p.N71N|TJP3_ENST00000587686.1_Silent_p.N81N|TJP3_ENST00000262968.9_Silent_p.N81N|TJP3_ENST00000539908.2_Silent_p.N26N|TJP3_ENST00000382008.3_Silent_p.N62N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	62	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGTGAACGGGGTTTCCA	0.597																																						uc010xhv.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(241-243)AAC>AAT		tight junction protein 3							153.0	136.0	141.0					19																	3730053		2203	4300	6503	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3730053C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.186C>T	19.37:g.3730053C>T						TJP3_uc010xhs.1_Silent_p.N62N|TJP3_uc010xht.1_Silent_p.N26N|TJP3_uc010xhu.1_Silent_p.N71N|TJP3_uc010xhw.1_Silent_p.N81N	p.N81N	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	3	243	+			62			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.243C>T	CCDS32873.2																																																																																				0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		
MATK	4145	broad.mit.edu	37	19	3783147	3783147	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3783147G>A	ENST00000310132.6	-	7	1051	c.653C>T	c.(652-654)tCg>tTg	p.S218L	MATK_ENST00000395040.2_Missense_Mutation_p.S177L|MATK_ENST00000585778.1_Missense_Mutation_p.S218L|MATK_ENST00000395045.2_Missense_Mutation_p.S219L	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	218					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGGCCGACTTGGTCCC	0.657																																						uc002lyt.2																			0				stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(652-654)TCG>TTG		megakaryocyte-associated tyrosine kinase isoform							123.0	92.0	102.0					19																	3783147		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783147G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.653C>T	19.37:g.3783147G>A	ENSP00000308734:p.Ser218Leu					MATK_uc002lyv.2_Missense_Mutation_p.S219L|MATK_uc002lyu.2_Missense_Mutation_p.S177L|MATK_uc010dtq.2_Missense_Mutation_p.S218L	p.S218L	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1053	-		Hepatocellular(1079;0.137)	218					B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.653C>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413644	0.62511	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.74632	-0.86;-0.86;-0.84	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000002	T	0.82042	0.4951	L	0.56769	1.78	0.53688	D	0.999973	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.63488	0.915;0.878;0.915	T	0.83243	-0.0057	10	0.52906	T	0.07	-21.3508	14.8103	0.69989	0.0:0.0:1.0:0.0	.	218;219;218	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	L	219;218;177	ENSP00000378485:S219L;ENSP00000308734:S218L;ENSP00000378481:S177L	ENSP00000308734:S218L	S	-	2	0	MATK	3734147	1.000000	0.71417	0.068000	0.19968	0.097000	0.18754	8.789000	0.91839	2.159000	0.67721	0.561000	0.74099	TCG		0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355	
CATSPERD	257062	broad.mit.edu	37	19	5757927	5757927	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:5757927A>G	ENST00000381624.3	+	14	1413	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.N109S	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	451					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCAGATGGGAACACCAAGTAC	0.567																																						uc002mda.2																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1351-1353)AAC>AGC		transmembrane protein 146 precursor							68.0	72.0	71.0					19																	5757927		1986	4154	6140	SO:0001583	missense	257062					integral to membrane		g.chr19:5757927A>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1352A>G	19.37:g.5757927A>G	ENSP00000371037:p.Asn451Ser					TMEM146_uc010duj.1_Missense_Mutation_p.N109S	p.N451S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			14	1413	+			451			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1352A>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055147	0.36277	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.25579	1.79;1.79	3.93	0.606	0.17559	.	0.189067	0.25335	N	0.031409	T	0.25531	0.0621	M	0.64997	1.995	0.09310	N	1	P;P	0.44521	0.518;0.837	B;B	0.43728	0.103;0.429	T	0.13361	-1.0512	10	0.87932	D	0	-22.1988	6.0175	0.19611	0.6366:0.0:0.3634:0.0	.	377;451	B7WNK5;Q86XM0	.;TM146_HUMAN	S	377;451;109;122;120	ENSP00000371037:N451S;ENSP00000371027:N109S	ENSP00000310546:N122S	N	+	2	0	TMEM146	5708927	0.226000	0.23696	0.006000	0.13384	0.032000	0.12392	1.191000	0.32138	-0.151000	0.11176	0.240000	0.17902	AAC		0.567	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
NFIX	4784	broad.mit.edu	37	19	13192662	13192662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:13192662delC	ENST00000592199.1	+	8	1247	c.1247delC	c.(1246-1248)accfs	p.T416fs	NFIX_ENST00000397661.2_Frame_Shift_Del_p.T416fs|NFIX_ENST00000587260.1_Frame_Shift_Del_p.T415fs|NFIX_ENST00000588228.1_Frame_Shift_Del_p.T369fs|NFIX_ENST00000360105.4_Frame_Shift_Del_p.T378fs|NFIX_ENST00000585575.1_Frame_Shift_Del_p.T408fs|NFIX_ENST00000587760.1_Frame_Shift_Del_p.T408fs|NFIX_ENST00000358552.3_Frame_Shift_Del_p.T374fs			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	416					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGCCAGGCCACCGGACAGGTG	0.612											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010xmx.1																			0				breast(1)|skin(1)	2						c.(1270-1272)ACCfs		RecName: Full=Nuclear factor 1;							38.0	41.0	40.0					19																	13192662		1997	4147	6144	SO:0001589	frameshift_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13192662delC	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1247delC	19.37:g.13192662delC	ENSP00000467512:p.Thr416fs		OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	NFIX_uc002mwd.2_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.2_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.2_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.1_Frame_Shift_Del_p.T415fs	p.T424fs			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		8	1324	+			416					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Frame_Shift_Del	DEL	ENST00000592199.1	37	c.1271delC																																																																																					0.612	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	
NPHS1	4868	broad.mit.edu	37	19	36340038	36340038	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:36340038C>T	ENST00000378910.5	-	8	851	c.852G>A	c.(850-852)ccG>ccA	p.P284P	NPHS1_ENST00000353632.6_Silent_p.P284P|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	284	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTGGACACCGGCTGGCCAT	0.677																																						uc002oby.2																			0				ovary(4)|skin(1)	5						c.(850-852)CCG>CCA		nephrin precursor							39.0	38.0	38.0					19																	36340038		2203	4299	6502	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340038C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.852G>A	19.37:g.36340038C>T							p.P284P	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	852	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		284			Ig-like C2-type 3.|Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.852G>A	CCDS32996.1																																																																																				0.677	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
ZNF526	116115	broad.mit.edu	37	19	42730344	42730344	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:42730344C>G	ENST00000301215.3	+	3	2014	c.1789C>G	c.(1789-1791)Cga>Gga	p.R597G		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGTCCATGCCCGAGCTCGGAC	0.612																																						uc002osz.1																			0					0						c.(1789-1791)CGA>GGA		zinc finger protein 526							66.0	65.0	66.0					19																	42730344		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730344C>G	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1789C>G	19.37:g.42730344C>G	ENSP00000301215:p.Arg597Gly						p.R597G	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	1945	+		Prostate(69;0.0704)	597					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1789C>G	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	2.950	-0.217056	0.06101	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.08896	3.04	4.1	1.96	0.26148	Zinc finger, C2H2 (1);	0.677518	0.13299	N	0.398356	T	0.02342	0.0072	N	0.01668	-0.77	0.30188	N	0.799734	B	0.06786	0.001	B	0.09377	0.004	T	0.42982	-0.9419	10	0.02654	T	1	-4.0237	7.7739	0.29026	0.0:0.7404:0.165:0.0945	.	597	Q8TF50	ZN526_HUMAN	G	453;597	ENSP00000301215:R597G	ENSP00000301215:R597G	R	+	1	2	ZNF526	47422184	0.001000	0.12720	0.643000	0.29450	0.577000	0.36160	0.648000	0.24828	0.688000	0.31529	-0.136000	0.14681	CGA		0.612	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401	
ZNF667	63934	broad.mit.edu	37	19	56953854	56953859	+	In_Frame_Del	DEL	CTTCTC	CTTCTC	-	rs554126786		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:56953854_56953859delCTTCTC	ENST00000504904.3	-	7	1224_1229	c.505_510delGAGAAG	c.(505-510)gagaagdel	p.EK169del	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_In_Frame_Del_p.EK169del|ZNF667_ENST00000342634.3_In_Frame_Del_p.EK297del			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCAAAAGGCTTCTCTCCTGTATGA	0.374																																						uc002qnd.2																			0				pancreas(1)	1						c.(505-510)GAGAAGdel		zinc finger protein 667																																				SO:0001651	inframe_deletion	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953854_56953859delCTTCTC		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.505_510delGAGAAG	19.37:g.56953854_56953859delCTTCTC	ENSP00000439402:p.Glu169_Lys170del					ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_In_Frame_Del_p.EK169del|ZNF667_uc010etm.2_In_Frame_Del_p.EK112del	p.EK169del	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	667_672	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	169_170					B2RMS6|B9EK36|Q6B093|Q9H807	In_Frame_Del	DEL	ENST00000504904.3	37	c.505_510delGAGAAG	CCDS12944.1																																																																																				0.374	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZNF606	80095	broad.mit.edu	37	19	58490980	58490980	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:58490980G>C	ENST00000341164.4	-	7	1688	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	ZNF606_ENST00000536132.1_Missense_Mutation_p.F266L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TAAAGGATGAGAAATAAAAGA	0.333																																						uc002qqw.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1066-1068)TTC>TTG		zinc finger protein 606							102.0	96.0	98.0					19																	58490980		2203	4299	6502	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490980G>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1068C>G	19.37:g.58490980G>C	ENSP00000343617:p.Phe356Leu					ZNF606_uc010yhp.1_Missense_Mutation_p.F266L	p.F356L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1686	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	356					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1068C>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	2.568	-0.300220	0.05532	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.13901	2.55;2.55;2.55	4.29	-0.44	0.12261	.	0.000000	0.46442	D	0.000292	T	0.05364	0.0142	N	0.11064	0.09	0.23381	N	0.997793	B	0.18013	0.025	B	0.12837	0.008	T	0.44003	-0.9356	10	0.10111	T	0.7	.	9.0395	0.36309	0.3469:0.0:0.6531:0.0	.	356	Q8WXB4	ZN606_HUMAN	L	356;266;356	ENSP00000343617:F356L;ENSP00000445624:F266L;ENSP00000446972:F356L	ENSP00000343617:F356L	F	-	3	2	ZNF606	63182792	0.744000	0.28250	0.994000	0.49952	0.974000	0.67602	-0.229000	0.09098	0.033000	0.15463	0.655000	0.94253	TTC		0.333	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
TPO	7173	broad.mit.edu	37	2	1488428	1488428	+	Missense_Mutation	SNP	G	G	A	rs373267637		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:1488428G>A	ENST00000345913.4	+	9	1490	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	TPO_ENST00000337415.3_Missense_Mutation_p.V467M|TPO_ENST00000349624.3_Missense_Mutation_p.V294M|TPO_ENST00000382201.3_Missense_Mutation_p.V467M|TPO_ENST00000329066.4_Missense_Mutation_p.V467M|TPO_ENST00000346956.3_Missense_Mutation_p.V467M|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.V294M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	467					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAGCAGTACGTGGGTCCCTA	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		15211	0.0		0.0	False		,,,				2504	0.001					uc002qww.2																			0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1399-1401)GTG>ATG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)		MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	74.0	68.0	70.0		1399,1399,1399,1399,1399,880	2.5	0.7	2		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	21,21,21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	467/934,467/934,467/877,467/877,467/890,294/761	1488428	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488428G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1399G>A	2.37:g.1488428G>A	ENSP00000318820:p.Val467Met					TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.V467M|TPO_uc002qwr.2_Missense_Mutation_p.V467M|TPO_uc002qwx.2_Missense_Mutation_p.V467M|TPO_uc010yio.1_Missense_Mutation_p.V294M|TPO_uc010yip.1_Missense_Mutation_p.V467M|TPO_uc002qwy.1_Translation_Start_Site|TPO_uc002qwz.2_RNA	p.V467M	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1490	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	467			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1399G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.123|3.123	-0.180077|-0.180077	0.06380|0.06380	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.|T;T;T;T;T;T;T;T	.|0.69175	.|-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.3|5.3	2.49|2.49	0.30216|0.30216	.|.	.|0.329390	.|0.32343	.|N	.|0.006237	T|T	0.48370|0.48370	0.1496|0.1496	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.54601	.|0.76;0.967;0.76;0.798	.|B;B;B;B	.|0.42386	.|0.17;0.386;0.118;0.261	T|T	0.37957|0.37957	-0.9683|-0.9683	6|10	0.72032|0.30078	D|T	0.01|0.28	-34.9782|-34.9782	6.0076|6.0076	0.19554|0.19554	0.4403:0.0:0.5597:0.0|0.4403:0.0:0.5597:0.0	.|.	.|467;294;467;467	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	H|M	150|467;467;467;294;467;467;294;396	.|ENSP00000337263:V467M;ENSP00000318820:V467M;ENSP00000263886:V467M;ENSP00000332044:V294M;ENSP00000329869:V467M;ENSP00000371636:V467M;ENSP00000371633:V294M;ENSP00000405788:V396M	ENSP00000439133:R150H|ENSP00000329869:V467M	R|V	+|+	2|1	0|0	TPO|TPO	1467435|1467435	0.723000|0.723000	0.28027|0.28027	0.711000|0.711000	0.30485|0.30485	0.026000|0.026000	0.11368|0.11368	0.774000|0.774000	0.26675|0.26675	1.230000|1.230000	0.43646|0.43646	-0.265000|-0.265000	0.10407|0.10407	CGT|GTG		0.587	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
EMILIN1	11117	broad.mit.edu	37	2	27303034	27303034	+	Silent	SNP	C	C	T	rs373206233		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:27303034C>T	ENST00000380320.4	+	2	685	c.186C>T	c.(184-186)taC>taT	p.Y62Y		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	62	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGTGCCTACGTGGTGACCC	0.592													c|||	1	0.000199681	0.0	0.0	5008	,	,		20643	0.0		0.001	False		,,,				2504	0.0					uc002rii.3																			0				pancreas(1)	1						c.(184-186)TAC>TAT		elastin microfibril interfacer 1 precursor		T		0,4406		0,0,2203	200.0	177.0	185.0		186	-6.8	0.2	2		185	1,8599		0,1,4299	no	coding-synonymous	EMILIN1	NM_007046.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		62/1017	27303034	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27303034C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.186C>T	2.37:g.27303034C>T						EMILIN1_uc010eyq.1_Silent_p.Y62Y	p.Y62Y	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			2	614	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		62			EMI.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.186C>T	CCDS1733.1																																																																																				0.592	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046	
PSME4	23198	broad.mit.edu	37	2	54094006	54094006	+	Missense_Mutation	SNP	G	G	A	rs375540598		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:54094006G>A	ENST00000404125.1	-	45	5330	c.5275C>T	c.(5275-5277)Cgc>Tgc	p.R1759C	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.R903C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1759					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAGCATGGCGTTTGACCAAC	0.418																																						uc002rxp.2																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(5275-5277)CGC>TGC		proteasome (prosome, macropain) activator							101.0	89.0	93.0					2																	54094006		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54094006G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5275C>T	2.37:g.54094006G>A	ENSP00000384211:p.Arg1759Cys					PSME4_uc010yop.1_Missense_Mutation_p.R1649C|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.R1134C|PSME4_uc010fbv.1_Missense_Mutation_p.R903C|PSME4_uc010fbt.1_Missense_Mutation_p.R194C	p.R1759C	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		45	5331	-			1759					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.5275C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455253	0.84209	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.65916	-0.18;-0.18	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.90650	3.135	0.80722	D	1	D;P;P;D	0.63046	0.992;0.766;0.766;0.987	P;B;B;P	0.55011	0.757;0.158;0.158;0.766	D	0.84252	0.0478	10	0.72032	D	0.01	-14.289	20.0745	0.97737	0.0:0.0:1.0:0.0	.	1134;903;903;1759	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	C	903;1759	ENSP00000410830:R903C;ENSP00000384211:R1759C	ENSP00000384211:R1759C	R	-	1	0	PSME4	53947510	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.837000	0.99465	2.748000	0.94277	0.462000	0.41574	CGC		0.418	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
IL1R2	7850	broad.mit.edu	37	2	102638708	102638708	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:102638708C>T	ENST00000332549.3	+	6	977	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	IL1R2_ENST00000393414.2_Silent_p.L250L|IL1R2_ENST00000441002.1_Silent_p.L250L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	250	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATCAGCTTCTCTGGGTAAGGC	0.507																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			0				ovary(1)|breast(1)	2						c.(748-750)CTG>TTG		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						148.0	144.0	145.0					2																	102638708		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638708C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.748C>T	2.37:g.102638708C>T						IL1R2_uc002tbn.2_Silent_p.L250L|IL1R2_uc002tbo.1_Silent_p.L250L	p.L250L	NM_004633	NP_004624	P27930	IL1R2_HUMAN			6	977	+			250			Extracellular (Potential).|Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.748C>T	CCDS2054.1																																																																																				0.507	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	
SLC5A7	60482	broad.mit.edu	37	2	108609520	108609520	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:108609520C>A	ENST00000264047.2	+	4	661	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L129I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.L24I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	129					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATGGGCGGACTCCTGTTTAT	0.453																																						uc002tdv.2																			0		p.L129L(1)		ovary(2)|central_nervous_system(1)|skin(1)	4						c.(385-387)CTC>ATC		solute carrier family 5 (choline transporter),	Choline(DB00122)						136.0	127.0	130.0					2																	108609520		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108609520C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.385C>A	2.37:g.108609520C>A	ENSP00000264047:p.Leu129Ile					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.L129I|SLC5A7_uc010ywn.1_Missense_Mutation_p.L16I	p.L129I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			4	661	+			129			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.385C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200296	0.79015	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88586	-2.4;-2.4;-2.4	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.72576	2.205	0.80722	D	1	P	0.37500	0.597	P	0.48654	0.585	D	0.89535	0.3788	10	0.39692	T	0.17	-20.7403	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	129	Q9GZV3	SC5A7_HUMAN	I	129;24;129	ENSP00000387346:L129I;ENSP00000445351:L24I;ENSP00000264047:L129I	ENSP00000264047:L129I	L	+	1	0	SLC5A7	107975952	0.996000	0.38824	0.984000	0.44739	0.861000	0.49209	3.330000	0.52068	2.880000	0.98712	0.650000	0.86243	CTC		0.453	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
STAM2	10254	broad.mit.edu	37	2	153003822	153003822	+	Splice_Site	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:153003822C>T	ENST00000263904.4	-	5	650	c.301G>A	c.(301-303)Gca>Aca	p.A101T	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	101	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTAGGATGTGCCTTTTAAGGA	0.299																																						uc002tyc.3																			0				ovary(1)	1						c.(301-303)GCA>ACA		signal transducing adaptor molecule 2							53.0	54.0	53.0					2																	153003822		2203	4300	6503	SO:0001630	splice_region_variant	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003822C>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.301-1G>A	2.37:g.153003822C>T						STAM2_uc010foa.1_Missense_Mutation_p.A101T|STAM2_uc002tyd.2_Missense_Mutation_p.A101T	p.A101T	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	651	-			101			VHS.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.301G>A	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869154	0.72065	.	.	ENSG00000115145	ENST00000263904	T	0.21932	1.98	4.66	4.66	0.58398	Src homology-3 domain (1);VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.096397	0.64402	D	0.000001	T	0.10121	0.0248	N	0.04724	-0.175	0.80722	D	1	B;B	0.24823	0.002;0.112	B;B	0.24269	0.006;0.052	T	0.11446	-1.0587	10	0.07325	T	0.83	-19.5996	15.4124	0.74937	0.0:1.0:0.0:0.0	.	101;101	O75886-2;O75886	.;STAM2_HUMAN	T	101	ENSP00000263904:A101T	ENSP00000263904:A101T	A	-	1	0	STAM2	152712068	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.915000	0.63355	2.576000	0.86940	0.591000	0.81541	GCA		0.299	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843	Missense_Mutation
NHEJ1	79840	broad.mit.edu	37	2	220012493	220012493	+	Silent	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:220012493G>A	ENST00000356853.5	-	4	548	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	NHEJ1_ENST00000409720.1_Silent_p.L139L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	139					B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ATGCCCATCAGAGGACGAATC	0.433								Non-homologous end-joining																														uc002vjp.3																			0				lung(1)	1						c.(415-417)CTG>TTG	Direct_reversal_of_damage|NHEJ	nonhomologous end-joining factor 1							116.0	96.0	103.0					2																	220012493		2203	4300	6503	SO:0001819	synonymous_variant	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:220012493G>A	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.415C>T	2.37:g.220012493G>A						NHEJ1_uc002vjq.3_RNA	p.L139L	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	4	561	-		Renal(207;0.0915)	139					B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Silent	SNP	ENST00000356853.5	37	c.415C>T	CCDS2432.1																																																																																				0.433	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782	
PLCB4	5332	broad.mit.edu	37	20	9417712	9417712	+	Missense_Mutation	SNP	G	G	A	rs375191340		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:9417712G>A	ENST00000378493.1	+	26	2656	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	PLCB4_ENST00000378501.2_Missense_Mutation_p.A881T|PLCB4_ENST00000378473.3_Missense_Mutation_p.A893T|PLCB4_ENST00000414679.2_Missense_Mutation_p.A893T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.A881T|PLCB4_ENST00000278655.4_Missense_Mutation_p.A881T			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	881					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCAACACCGCCAAAGCAAA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17395	0.0		0.0	False		,,,				2504	0.0					uc002wnf.2																			0				skin(11)|ovary(3)|pancreas(1)	15						c.(2641-2643)GCC>ACC		phospholipase C beta 4 isoform b		G	THR/ALA,THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	89.0	77.0	81.0		2641,2677,2641	5.1	0.8	20		81	0,8600		0,0,4300	no	missense,missense,missense	PLCB4	NM_000933.3,NM_001172646.1,NM_182797.2	58,58,58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	881/1195,893/1188,881/1176	9417712	4,13002	2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9417712G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2641G>A	20.37:g.9417712G>A	ENSP00000367754:p.Ala881Thr					PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.2_Missense_Mutation_p.A893T|PLCB4_uc002wne.2_Missense_Mutation_p.A881T|PLCB4_uc002wnh.2_Missense_Mutation_p.A728T	p.A881T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			28	2777	+			881					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2641G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	2.502	-0.315047	0.05422	9.08E-4	0.0	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61742	2.21;2.22;0.08;0.08;2.21;2.03	6.07	5.12	0.69794	.	0.225490	0.47093	N	0.000260	T	0.41994	0.1183	L	0.29908	0.895	0.43598	D	0.995951	B;B;B;B	0.31519	0.003;0.042;0.327;0.002	B;B;B;B	0.21360	0.003;0.004;0.034;0.003	T	0.16541	-1.0399	10	0.15952	T	0.53	.	14.6697	0.68934	0.0614:0.1551:0.7834:0.0	.	893;728;881;881	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	T	881;893;881;881;881;729	ENSP00000334105:A881T;ENSP00000367734:A893T;ENSP00000278655:A881T;ENSP00000367754:A881T;ENSP00000367762:A881T;ENSP00000390616:A729T	ENSP00000278655:A881T	A	+	1	0	PLCB4	9365712	1.000000	0.71417	0.812000	0.32479	0.036000	0.12997	3.235000	0.51328	0.912000	0.36772	-0.797000	0.03246	GCC		0.512	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
KIF16B	55614	broad.mit.edu	37	20	16506810	16506810	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:16506810G>C	ENST00000354981.2	-	3	315	c.158C>G	c.(157-159)aCc>aGc	p.T53S	KIF16B_ENST00000408042.1_Missense_Mutation_p.T53S|KIF16B_ENST00000355755.3_Missense_Mutation_p.T53S|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	53	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAAGGTCTTGGTCCGTTCTCT	0.353																																						uc002wpg.1																			0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(157-159)ACC>AGC		kinesin-like motor protein C20orf23							161.0	162.0	161.0					20																	16506810		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16506810G>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.158C>G	20.37:g.16506810G>C	ENSP00000347076:p.Thr53Ser					KIF16B_uc010gch.1_Missense_Mutation_p.T53S|KIF16B_uc010gci.1_Missense_Mutation_p.T53S|KIF16B_uc010gcj.1_Missense_Mutation_p.T53S	p.T53S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			3	316	-			53			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.158C>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838583	0.71373	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74947	-0.89;-0.89;-0.89	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.129159	0.53938	D	0.000053	T	0.68311	0.2987	N	0.10707	0.03	0.80722	D	1	P;D;P;D	0.53462	0.893;0.96;0.947;0.957	P;P;P;P	0.55667	0.566;0.695;0.673;0.781	T	0.69139	-0.5224	10	0.27785	T	0.31	.	16.3704	0.83355	0.0:0.0:1.0:0.0	.	53;53;53;53	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	S	53	ENSP00000347076:T53S;ENSP00000347995:T53S;ENSP00000384164:T53S	ENSP00000347076:T53S	T	-	2	0	KIF16B	16454810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.092000	0.50207	2.584000	0.87258	0.557000	0.71058	ACC		0.353	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
SSTR4	6754	broad.mit.edu	37	20	23016581	23016581	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:23016581C>T	ENST00000255008.3	+	1	525	c.461C>T	c.(460-462)gCg>gTg	p.A154V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	154					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCTGCGCGCGGCGACCTAC	0.662																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			0				ovary(1)	1						c.(460-462)GCG>GTG		somatostatin receptor 4							49.0	53.0	52.0					20																	23016581		2201	4294	6495	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016581C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.461C>T	20.37:g.23016581C>T	ENSP00000255008:p.Ala154Val						p.A154V	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	525	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		154			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.461C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264476	0.59431	.	.	ENSG00000132671	ENST00000255008	T	0.19394	2.15	3.87	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000009	T	0.28732	0.0712	M	0.79011	2.435	0.41293	D	0.986996	P	0.39480	0.675	B	0.43658	0.426	T	0.05886	-1.0858	10	0.87932	D	0	.	8.139	0.31071	0.0:0.7959:0.0:0.2041	.	154	P31391	SSR4_HUMAN	V	154	ENSP00000255008:A154V	ENSP00000255008:A154V	A	+	2	0	SSTR4	22964581	0.976000	0.34144	0.068000	0.19968	0.362000	0.29581	5.258000	0.65479	0.292000	0.22492	0.655000	0.94253	GCG		0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1		
BPIFB2	80341	broad.mit.edu	37	20	31606072	31606072	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:31606072C>G	ENST00000170150.3	+	8	780	c.585C>G	c.(583-585)aaC>aaG	p.N195K		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	195						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AAGGCCTCAACCCCGTGGGTC	0.473																																						uc002wyj.2																			0				skin(2)|large_intestine(1)|ovary(1)	4						c.(583-585)AAC>AAG		bactericidal/permeability-increasing							109.0	98.0	101.0					20																	31606072		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606072C>G	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.585C>G	20.37:g.31606072C>G	ENSP00000170150:p.Asn195Lys						p.N195K	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			8	779	+			195					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.585C>G	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	2.058	-0.416019	0.04766	.	.	ENSG00000078898	ENST00000170150	T	0.04454	3.62	5.0	1.91	0.25777	.	1.006310	0.07990	N	0.986930	T	0.03695	0.0105	N	0.24115	0.695	0.25642	N	0.986197	B	0.02656	0.0	B	0.04013	0.001	T	0.45279	-0.9272	10	0.48119	T	0.1	-1.6895	3.1462	0.06472	0.181:0.5458:0.1752:0.098	.	195	Q8N4F0	BPIB2_HUMAN	K	195	ENSP00000170150:N195K	ENSP00000170150:N195K	N	+	3	2	BPIFB2	31069733	0.002000	0.14202	0.879000	0.34478	0.928000	0.56348	-0.208000	0.09371	0.257000	0.21650	0.555000	0.69702	AAC		0.473	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	
PPP1R16B	26051	broad.mit.edu	37	20	37534721	37534721	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:37534721C>T	ENST00000299824.1	+	7	995	c.806C>T	c.(805-807)gCt>gTt	p.A269V	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	269					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGCATGCAGCTGCCTTCTGG	0.607																																						uc002xje.2																			0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(805-807)GCT>GTT		protein phosphatase 1 regulatory inhibitor							71.0	69.0	70.0					20																	37534721		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37534721C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.806C>T	20.37:g.37534721C>T	ENSP00000299824:p.Ala269Val					PPP1R16B_uc010ggc.2_Intron	p.A269V	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			7	995	+		Myeloproliferative disorder(115;0.00878)	269			ANK 4.		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.806C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492256	0.96339	.	.	ENSG00000101445	ENST00000299824	T	0.80824	-1.42	5.55	5.55	0.83447	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90815	0.4704	10	0.72032	D	0.01	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	269	Q96T49	PP16B_HUMAN	V	269	ENSP00000299824:A269V	ENSP00000299824:A269V	A	+	2	0	PPP1R16B	36968135	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	7.237000	0.78164	2.894000	0.99253	0.655000	0.94253	GCT		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
MX2	4600	broad.mit.edu	37	21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr21:42773954A>G	ENST00000330714.3	+	11	1656	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	491					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433																																						uc002yzf.1																			0				ovary(2)	2						c.(1471-1473)GAG>GGG		myxovirus resistance protein 2							128.0	121.0	124.0					21																	42773954		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42773954A>G		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1472A>G	21.37:g.42773954A>G	ENSP00000333657:p.Glu491Gly					MX2_uc002yzg.1_Missense_Mutation_p.E214G|MX2_uc010gop.1_5'UTR	p.E491G	NM_002463	NP_002454	P20592	MX2_HUMAN			11	1576	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	491					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1472A>G	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666438	0.67814	.	.	ENSG00000183486	ENST00000330714	T	0.74842	-0.88	3.69	3.69	0.42338	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.84585	2.705	0.80722	D	1	P	0.37636	0.603	P	0.51945	0.685	D	0.86259	0.1654	10	0.87932	D	0	.	11.9258	0.52819	1.0:0.0:0.0:0.0	.	491	P20592	MX2_HUMAN	G	491	ENSP00000333657:E491G	ENSP00000333657:E491G	E	+	2	0	MX2	41695824	1.000000	0.71417	0.532000	0.27989	0.544000	0.35116	7.542000	0.82095	1.641000	0.50575	0.456000	0.33151	GAG		0.433	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
XYLB	9942	broad.mit.edu	37	3	38411555	38411555	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:38411555A>G	ENST00000207870.3	+	9	745	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	XYLB_ENST00000542835.1_Missense_Mutation_p.M82V	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	219					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGGTTCTGGAATGAATTTGTT	0.443																																						uc003cic.2																			0				ovary(1)	1						c.(655-657)ATG>GTG		xylulokinase							254.0	236.0	242.0					3																	38411555		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38411555A>G	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.655A>G	3.37:g.38411555A>G	ENSP00000207870:p.Met219Val					XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V	p.M219V	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	9	764	+			219					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.655A>G	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954735	0.73902	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.46451	0.87;0.87	5.22	5.22	0.72569	Carbohydrate kinase, FGGY, N-terminal (1);	0.039251	0.85682	D	0.000000	T	0.70806	0.3266	M	0.93016	3.37	0.47621	D	0.999473	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.78521	-0.2172	10	0.72032	D	0.01	.	13.0377	0.58881	1.0:0.0:0.0:0.0	.	82;219	B4DDT2;O75191	.;XYLB_HUMAN	V	219;82	ENSP00000207870:M219V;ENSP00000443659:M82V	ENSP00000207870:M219V	M	+	1	0	XYLB	38386559	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.663000	0.83820	1.955000	0.56771	0.459000	0.35465	ATG		0.443	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	
CD96	10225	broad.mit.edu	37	3	111264248	111264248	+	Splice_Site	SNP	C	C	T	rs368182013		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:111264248C>T	ENST00000283285.5	+	2	548	c.417C>T	c.(415-417)caC>caT	p.H139H	CD96_ENST00000438817.2_Splice_Site_p.H139H|CD96_ENST00000352690.4_Splice_Site_p.H139H	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	139					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCAGACACACGGTAAGCATA	0.418									Opitz Trigonocephaly syndrome																													uc003dxw.2																			0				skin(2)|central_nervous_system(1)	3						c.(415-417)CAC>CAT		CD96 antigen isoform 1 precursor		C	,	1,4403		0,1,2201	49.0	43.0	45.0		417,417	-5.2	0.0	3		45	1,8597		0,1,4298	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CD96	NM_005816.4,NM_198196.2	,	0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154	,	139/570,139/586	111264248	2,13000	2202	4299	6501	SO:0001630	splice_region_variant	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111264248C>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.418+1C>T	3.37:g.111264248C>T						CD96_uc003dxv.2_Silent_p.H139H|CD96_uc003dxx.2_Silent_p.H139H|CD96_uc010hpy.1_Silent_p.H139H	p.H139H	NM_198196	NP_937839	P40200	TACT_HUMAN			2	587	+			139			Extracellular (Potential).		Q5JPB3	Silent	SNP	ENST00000283285.5	37	c.417C>T	CCDS2959.1																																																																																				0.418	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		Silent
DOK7	285489	broad.mit.edu	37	4	3478126	3478126	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:3478126C>A	ENST00000340083.5	+	4	454	c.389C>A	c.(388-390)aCc>aAc	p.T130N	DOK7_ENST00000507039.1_Missense_Mutation_p.T130N|DOK7_ENST00000389653.2_Missense_Mutation_p.T130N	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	130	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCCGGCTACCCTGCACCTC	0.672																																						uc003ghd.2																			0				skin(1)	1						c.(388-390)ACC>AAC		downstream of tyrosine kinase 7 isoform 1							84.0	68.0	74.0					4																	3478126		2203	4299	6502	SO:0001583	missense	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3478126C>A	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.389C>A	4.37:g.3478126C>A	ENSP00000344432:p.Thr130Asn					DOK7_uc003ghe.2_5'UTR	p.T130N	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	4	459	+			130			IRS-type PTB.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	c.389C>A	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692492	0.68271	.	.	ENSG00000175920	ENST00000389653;ENST00000507039;ENST00000340083	T;T;T	0.74947	-0.89;-0.89;-0.89	4.42	3.54	0.40534	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.194692	0.43260	D	0.000581	T	0.80824	0.4697	M	0.64997	1.995	0.37044	D	0.897292	D	0.62365	0.991	D	0.66716	0.946	T	0.79145	-0.1924	10	0.14656	T	0.56	-5.1456	13.008	0.58717	0.0:0.8363:0.1637:0.0	.	130	Q18PE1	DOK7_HUMAN	N	130	ENSP00000374304:T130N;ENSP00000423614:T130N;ENSP00000344432:T130N	ENSP00000344432:T130N	T	+	2	0	DOK7	3447924	0.998000	0.40836	0.723000	0.30687	0.957000	0.61999	4.254000	0.58798	0.782000	0.33613	0.491000	0.48974	ACC		0.672	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
GABRA4	2557	broad.mit.edu	37	4	46967126	46967126	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:46967126G>A	ENST00000264318.3	-	8	1977	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	332					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATAAGGGCCGAAAATACAAA	0.458																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(994-996)TCG>TTG		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						136.0	123.0	127.0					4																	46967126		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967126G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.995C>T	4.37:g.46967126G>A	ENSP00000264318:p.Ser332Leu						p.S332L	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1134	-			332			Helical; (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.995C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249590	0.95305	.	.	ENSG00000109158	ENST00000264318	D	0.85339	-1.97	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	N	0.13371	0.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85262	0.1051	10	0.31617	T	0.26	.	17.0404	0.86488	0.0:0.0:1.0:0.0	.	332	P48169	GBRA4_HUMAN	L	332	ENSP00000264318:S332L	ENSP00000264318:S332L	S	-	2	0	GABRA4	46661883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.481000	0.83766	0.591000	0.81541	TCG		0.458	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
NUP54	53371	broad.mit.edu	37	4	77065621	77065621	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:77065621A>G	ENST00000264883.3	-	2	213	c.73T>C	c.(73-75)Ttt>Ctt	p.F25L	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Missense_Mutation_p.F25L	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	25	9 X 2 AA repeats of F-G.|Gly-rich.			AGGF -> GWV (in Ref. 1; AAF67488). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCCTCCAAACCCACCTAAT	0.333																																						uc003hjs.2																			0				ovary(1)|lung(1)	2						c.(73-75)TTT>CTT		nucleoporin 54kDa							73.0	70.0	71.0					4																	77065621		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77065621A>G	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.73T>C	4.37:g.77065621A>G	ENSP00000264883:p.Phe25Leu					NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Missense_Mutation_p.F25L|NUP54_uc003hjt.2_5'UTR	p.F25L	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN			2	201	-			25	AGGF -> GWV (in Ref. 1; AAF67488).		Gly-rich.|2.|9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.73T>C	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128978	0.77549	.	.	ENSG00000138750	ENST00000264883;ENST00000514987;ENST00000514901	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.64170	1.965	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.77056	-0.2729	9	0.59425	D	0.04	-19.8299	14.5997	0.68432	1.0:0.0:0.0:0.0	.	25;25	B4DT35;Q7Z3B4	.;NUP54_HUMAN	L	25;25;79	.	ENSP00000264883:F25L	F	-	1	0	NUP54	77284645	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.820000	0.86633	2.182000	0.69389	0.533000	0.62120	TTT		0.333	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3		
ARHGAP24	83478	broad.mit.edu	37	4	86916597	86916597	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:86916597C>A	ENST00000395184.1	+	9	2256	c.1790C>A	c.(1789-1791)cCg>cAg	p.P597Q	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.P504Q|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.P502Q	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	597					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGGGCCCCCGCAGGACGAC	0.557																																						uc003hpk.2																			0					0						c.(1789-1791)CCG>CAG		Rho GTPase activating protein 24 isoform 1							68.0	70.0	69.0					4																	86916597		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916597C>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1790C>A	4.37:g.86916597C>A	ENSP00000378611:p.Pro597Gln					ARHGAP24_uc003hpl.2_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.2_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.2_Missense_Mutation_p.P504Q	p.P597Q	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	2239	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	597					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.1790C>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301950	0.23736	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.13420	2.93;2.6;2.59;2.59	5.73	5.73	0.89815	.	0.237133	0.44902	D	0.000407	T	0.18299	0.0439	L	0.57536	1.79	0.09310	N	0.999997	P;B;P	0.46621	0.873;0.283;0.881	P;B;B	0.44860	0.462;0.084;0.431	T	0.24512	-1.0158	10	0.14656	T	0.56	.	15.4941	0.75634	0.1391:0.8609:0.0:0.0	.	502;504;597	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	Q	597;502;512;504	ENSP00000378611:P597Q;ENSP00000378610:P502Q;ENSP00000425589:P512Q;ENSP00000264343:P504Q	ENSP00000264343:P504Q	P	+	2	0	ARHGAP24	87135621	0.041000	0.20044	0.380000	0.26093	0.464000	0.32679	1.692000	0.37731	2.710000	0.92621	0.491000	0.48974	CCG		0.557	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305	
PDHA2	5161	broad.mit.edu	37	4	96761886	96761886	+	Silent	SNP	C	C	T	rs550687466		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:96761886C>T	ENST00000295266.4	+	1	648	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	195					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.G195G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATGGGGATGGCGCTGCGAATC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18902	0.001		0.0	False		,,,				2504	0.0					uc003htr.3																			1	Substitution - coding silent(1)		kidney(1)	central_nervous_system(1)	1						c.(583-585)GGC>GGT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						61.0	65.0	64.0					4																	96761886		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761886C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.585C>T	4.37:g.96761886C>T							p.G195G	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	648	+		Hepatocellular(203;0.114)	195					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.585C>T	CCDS3644.1																																																																																				0.473	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
ADH7	131	broad.mit.edu	37	4	100349053	100349053	+	Silent	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:100349053G>A	ENST00000209665.4	-	5	717	c.477C>T	c.(475-477)acC>acT	p.T159T	ADH7_ENST00000437033.2_Silent_p.T147T|ADH7_ENST00000476959.1_Silent_p.T167T|ADH7_ENST00000482593.1_Silent_p.T90T	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	159					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CTGTGTACTCGGTAAATGTAC	0.458																																						uc003huv.1																			0				lung(2)|skin(1)	3						c.(475-477)ACC>ACT		class IV alcohol dehydrogenase, mu or sigma	NADH(DB00157)						265.0	204.0	224.0					4																	100349053		2203	4300	6503	SO:0001819	synonymous_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349053G>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.477C>T	4.37:g.100349053G>A							p.T159T	NM_000673	NP_000664	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	5	576	-			159					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	c.477C>T	CCDS34034.1																																																																																				0.458	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673	
DCHS2	54798	broad.mit.edu	37	4	155157377	155157377	+	Silent	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:155157377T>C	ENST00000357232.4	-	25	7061	c.7062A>G	c.(7060-7062)gtA>gtG	p.V2354V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2354	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACAGGGTGATACAATAGAAT	0.393																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(7060-7062)GTA>GTG		dachsous 2 isoform 1							103.0	97.0	99.0					4																	155157377		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157377T>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7062A>G	4.37:g.155157377T>C							p.V2354V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7062	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2354			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.7062A>G	CCDS3785.1																																																																																				0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
CCDC110	256309	broad.mit.edu	37	4	186381079	186381079	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:186381079T>C	ENST00000307588.3	-	6	737	c.662A>G	c.(661-663)gAt>gGt	p.D221G	CCDC110_ENST00000510617.1_Missense_Mutation_p.D221G|CCDC110_ENST00000507501.1_Intron|CCDC110_ENST00000393540.3_Missense_Mutation_p.D184G	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	221						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGATTTATCCAGAATTAC	0.323																																						uc003ixu.3																			0				central_nervous_system(1)	1						c.(661-663)GAT>GGT		coiled-coil domain containing 110 isoform a							55.0	54.0	54.0					4																	186381079		2203	4300	6503	SO:0001583	missense	256309					nucleus		g.chr4:186381079T>C	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.662A>G	4.37:g.186381079T>C	ENSP00000306776:p.Asp221Gly					CCDC110_uc003ixv.3_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G	p.D221G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	738	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	221					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.662A>G	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	1.127	-0.653576	0.03480	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	T;T;T;T	0.53640	2.9;2.87;2.87;0.61	5.8	-1.91	0.07641	.	0.348517	0.24072	N	0.041814	T	0.31104	0.0786	L	0.38531	1.155	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.13407	0.009;0.004;0.005	T	0.21143	-1.0254	10	0.56958	D	0.05	-4.9766	6.7837	0.23662	0.1161:0.3472:0.0:0.5367	.	221;184;221	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	G	184;221;221;241	ENSP00000377172:D184G;ENSP00000306776:D221G;ENSP00000427246:D221G;ENSP00000425276:D241G	ENSP00000306776:D221G	D	-	2	0	CCDC110	186618073	0.018000	0.18449	0.009000	0.14445	0.144000	0.21451	-0.065000	0.11617	-0.081000	0.12662	-1.007000	0.02485	GAT		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
WDR70	55100	broad.mit.edu	37	5	37480065	37480065	+	Nonsense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:37480065T>G	ENST00000265107.4	+	8	972	c.816T>G	c.(814-816)taT>taG	p.Y272*	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Nonsense_Mutation_p.Y272*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	272							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGACCAGTATATTGTGGACA	0.348																																						uc003jkv.2																			0				ovary(1)|central_nervous_system(1)	2						c.(814-816)TAT>TAG		WD repeat domain 70							167.0	159.0	162.0					5																	37480065		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37480065T>G	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.816T>G	5.37:g.37480065T>G	ENSP00000265107:p.Tyr272*					WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	p.Y272*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	874	+	all_lung(31;0.000285)		272					Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.816T>G	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	T	39	7.469000	0.98302	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	5.66	3.12	0.35913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8179	8.2785	0.31887	0.0:0.3396:0.0:0.6604	.	.	.	.	X	272	.	ENSP00000265107:Y272X	Y	+	3	2	WDR70	37515822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.941000	0.29005	0.857000	0.35407	0.533000	0.62120	TAT		0.348	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034	
C5orf34	375444	broad.mit.edu	37	5	43509299	43509299	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:43509299T>G	ENST00000306862.2	-	2	518	c.143A>C	c.(142-144)gAa>gCa	p.E48A	RP11-159F24.3_ENST00000505645.1_RNA|RP11-159F24.6_ENST00000512498.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	48										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTCTGGTTGTTCTAAAGGATG	0.358																																						uc003jnz.1																			0				breast(1)	1						c.(142-144)GAA>GCA		hypothetical protein LOC375444							118.0	115.0	116.0					5																	43509299		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43509299T>G	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.143A>C	5.37:g.43509299T>G	ENSP00000303490:p.Glu48Ala					C5orf34_uc011cpx.1_Intron	p.E48A	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			3	460	-	Lung NSC(6;2.07e-05)		48						Missense_Mutation	SNP	ENST00000306862.2	37	c.143A>C	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246934	0.59103	.	.	ENSG00000172244	ENST00000306862	T	0.46451	0.87	5.05	5.05	0.67936	.	0.313247	0.34828	N	0.003648	T	0.37865	0.1019	L	0.60455	1.87	0.34410	D	0.696278	P	0.40731	0.728	B	0.33690	0.168	T	0.60439	-0.7263	10	0.72032	D	0.01	-6.1891	13.3113	0.60382	0.0:0.0:0.0:1.0	.	48	Q96MH7	CE034_HUMAN	A	48	ENSP00000303490:E48A	ENSP00000303490:E48A	E	-	2	0	C5orf34	43545056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.684000	0.54671	2.027000	0.59764	0.533000	0.62120	GAA		0.358	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566	
PCDHA10	56139	broad.mit.edu	37	5	140237634	140237634	+	Silent	SNP	G	G	A	rs181372488	byFrequency	TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:140237634G>A	ENST00000307360.5	+	1	2001	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTGTGTCGCTTGTGGAGG	0.667													.|||	8	0.00159744	0.0	0.0086	5008	,	,		14450	0.0		0.002	False		,,,				2504	0.0					uc003lhx.2																			0				ovary(2)|skin(2)|breast(1)	5						c.(1999-2001)TCG>TCA		protocadherin alpha 10 isoform 1 precursor		G	,,,,,,,,,,,,,	2,2640		0,2,1319	17.0	20.0	19.0		,2001,,,,,,,,,,,2001,	-5.8	0.9	5		19	62,4512		5,52,2230	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,,,,,,,,,,,,,	5,54,3549	AA,AG,GG		1.3555,0.0757,0.8869	,,,,,,,,,,,,,	,667/949,,,,,,,,,,,667/845,	140237634	64,7152	1321	2287	3608	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237634G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2001G>A	5.37:g.140237634G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.S667S	p.S667S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2001	+			667			Extracellular (Potential).|Cadherin 6.		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.2001G>A	CCDS54921.1																																																																																				0.667	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
ERGIC1	57222	broad.mit.edu	37	5	172336690	172336690	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:172336690A>G	ENST00000393784.3	+	4	315	c.176A>G	c.(175-177)gAt>gGt	p.D59G	ERGIC1_ENST00000326654.2_Missense_Mutation_p.D14G|ERGIC1_ENST00000523291.1_Missense_Mutation_p.D59G	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	59					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCTATGTCGATGACCCAGAC	0.542																																						uc003mbw.3																			0				skin(2)|ovary(1)	3						c.(175-177)GAT>GGT		endoplasmic reticulum-golgi intermediate							230.0	174.0	193.0					5																	172336690		2203	4300	6503	SO:0001583	missense	57222				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr5:172336690A>G	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.176A>G	5.37:g.172336690A>G	ENSP00000377374:p.Asp59Gly					ERGIC1_uc003mby.3_5'UTR|ERGIC1_uc011dfa.1_5'UTR|ERGIC1_uc003mbz.3_Missense_Mutation_p.D14G	p.D59G	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	370	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	59			Lumenal (Potential).		Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	37	c.176A>G	CCDS34292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.155557|4.155557	0.78114|0.78114	.|.	.|.	ENSG00000113719|ENSG00000113719	ENST00000393784;ENST00000520326;ENST00000523291;ENST00000518247;ENST00000326654|ENST00000519567	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86644|0.86644	0.5982|0.5982	H|H	0.95114|0.95114	3.625|3.625	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.978|.	D;P|.	0.77004|.	0.989;0.809|.	D|D	0.90702|0.90702	0.4621|0.4621	9|5	0.87932|.	D|.	0|.	-14.0036|-14.0036	14.6073|14.6073	0.68489|0.68489	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	14;59|.	Q969X5-3;Q969X5|.	.;ERGI1_HUMAN|.	G|V	59;59;59;14;14|48	.|.	ENSP00000325127:D14G|.	D|M	+|+	2|1	0|0	ERGIC1|ERGIC1	172269296|172269296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	9.033000|9.033000	0.93741|0.93741	1.911000|1.911000	0.55334|0.55334	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.542	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462	
KIF13A	63971	broad.mit.edu	37	6	17837205	17837205	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:17837205C>T	ENST00000259711.6	-	11	1164	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	KIF13A_ENST00000378826.2_Silent_p.V353V|KIF13A_ENST00000378843.2_Silent_p.V353V|KIF13A_ENST00000378816.5_Silent_p.V353V|KIF13A_ENST00000378814.5_Silent_p.V353V	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	353					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGCATGGTTCACAATCCTTT	0.502																																						uc003ncg.3																			0				large_intestine(2)|ovary(2)	4						c.(1057-1059)GTG>GTA		kinesin family member 13A isoform a							286.0	281.0	283.0					6																	17837205		2005	4177	6182	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837205C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1059G>A	6.37:g.17837205C>T						KIF13A_uc003ncf.2_Silent_p.V353V|KIF13A_uc003nch.3_Silent_p.V353V|KIF13A_uc003nci.3_Silent_p.V353V|KIF13A_uc003ncj.2_Silent_p.V29V	p.V353V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	1164	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	353					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.1059G>A	CCDS47381.1																																																																																				0.502	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
RFX6	222546	broad.mit.edu	37	6	117215161	117215161	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:117215161A>C	ENST00000332958.2	+	5	594	c.578A>C	c.(577-579)tAt>tCt	p.Y193S	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	193					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TATCATTACTATGGGATTGGC	0.413																																						uc003pxm.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(577-579)TAT>TCT		regulatory factor X, 6							177.0	156.0	163.0					6																	117215161		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117215161A>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.578A>C	6.37:g.117215161A>C	ENSP00000332208:p.Tyr193Ser						p.Y193S	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			5	641	+			193			RFX-type winged-helix.		Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.578A>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.365317	0.82463	.	.	ENSG00000185002	ENST00000332958	D	0.82619	-1.63	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.121474	0.64402	D	0.000018	T	0.80127	0.4566	M	0.72118	2.19	0.80722	D	1	P	0.43352	0.804	B	0.43575	0.424	D	0.84265	0.0485	10	0.87932	D	0	-8.96	14.7686	0.69659	1.0:0.0:0.0:0.0	.	193	Q8HWS3	RFX6_HUMAN	S	193	ENSP00000332208:Y193S	ENSP00000332208:Y193S	Y	+	2	0	RFX6	117321854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.707000	0.91367	2.282000	0.76494	0.533000	0.62120	TAT		0.413	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
SYNJ2	8871	broad.mit.edu	37	6	158483196	158483196	+	Splice_Site	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:158483196G>A	ENST00000355585.4	+	8	1202	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H	SYNJ2_ENST00000367122.2_Splice_Site_p.R376H|SYNJ2_ENST00000449859.2_Splice_Site_p.R304H|SYNJ2_ENST00000367121.3_Splice_Site_p.R376H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	376	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTCAGTCCACGGTGAGGCTCG	0.607																																						uc003qqx.1																			0				skin(1)	1						c.(1126-1128)CGT>CAT		synaptojanin 2							131.0	120.0	124.0					6																	158483196		2203	4300	6503	SO:0001630	splice_region_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483196G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1127+1G>A	6.37:g.158483196G>A						SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R376H|SYNJ2_uc003qqy.1_Missense_Mutation_p.R89H|SYNJ2_uc011efn.1_Missense_Mutation_p.R304H|SYNJ2_uc010kjo.1_Missense_Mutation_p.R325H|SYNJ2_uc003qqz.1_5'UTR	p.R376H	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1202	+			376			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1127G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.886209	0.91814	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	D;D;D;T	0.94687	-3.22;-3.49;-3.24;1.17	5.12	5.12	0.69794	Synaptojanin, N-terminal (1);	0.093958	0.47455	D	0.000224	D	0.96682	0.8917	M	0.73962	2.25	0.80722	D	1	D;P;D;D	0.89917	0.999;0.48;1.0;0.998	P;B;D;D	0.69479	0.891;0.163;0.964;0.909	D	0.97047	0.9761	10	0.72032	D	0.01	.	18.63	0.91357	0.0:0.0:1.0:0.0	.	304;376;376;376	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	H	376;376;376;304	ENSP00000356089:R376H;ENSP00000356088:R376H;ENSP00000347792:R376H;ENSP00000388371:R304H	ENSP00000347792:R376H	R	+	2	0	SYNJ2	158403184	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	8.307000	0.89964	2.407000	0.81776	0.456000	0.33151	CGT		0.607	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		Missense_Mutation
IGFBP1	3484	broad.mit.edu	37	7	45932660	45932660	+	Silent	SNP	C	C	T	rs375166026		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:45932660C>T	ENST00000275525.3	+	4	1046	c.750C>T	c.(748-750)aaC>aaT	p.N250N	IGFBP1_ENST00000468955.1_Silent_p.N207N|IGFBP1_ENST00000457280.1_Silent_p.N248N	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	250	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						GAGACCCCAACTGCCAGATAT	0.433																																						uc003tnp.2																			0				lung(1)	1						c.(748-750)AAC>AAT		insulin-like growth factor binding protein 1							59.0	60.0	60.0					7																	45932660		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45932660C>T		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.750C>T	7.37:g.45932660C>T						IGFBP1_uc003tno.3_Silent_p.N248N|IGFBP1_uc010kyn.2_Silent_p.N207N	p.N250N	NM_000596	NP_000587	P08833	IBP1_HUMAN			4	1043	+			250			Thyroglobulin type-1.		A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.750C>T	CCDS5504.1																																																																																				0.433	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596	
CDHR3	222256	broad.mit.edu	37	7	105660972	105660972	+	Missense_Mutation	SNP	C	C	T	rs144905888	byFrequency	TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:105660972C>T	ENST00000317716.9	+	13	1887	c.1807C>T	c.(1807-1809)Cgt>Tgt	p.R603C	CDHR3_ENST00000542731.1_Missense_Mutation_p.R603C|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.R515C|CDHR3_ENST00000343407.5_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	603	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CAGATCTTTCCGTTATTCCAT	0.498													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20399	0.0		0.001	False		,,,				2504	0.0					uc003vdl.3																			0				ovary(1)	1						c.(1807-1809)CGT>TGT		hypothetical protein LOC222256 precursor		C	CYS/ARG	2,3780		0,2,1889	137.0	121.0	126.0		1807	5.6	1.0	7	dbSNP_134	126	31,8193		0,31,4081	yes	missense	CDHR3	NM_152750.4	180	0,33,5970	TT,TC,CC		0.3769,0.0529,0.2749	probably-damaging	603/886	105660972	33,11973	1891	4112	6003	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660972C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1807C>T	7.37:g.105660972C>T	ENSP00000325954:p.Arg603Cys					CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.R590C|CDHR3_uc011klt.1_Missense_Mutation_p.R515C|CDHR3_uc003vdn.2_Intron	p.R603C	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			13	1915	+			603			Cadherin 6.|Extracellular (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.1807C>T	CCDS47684.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	15.16	2.751845	0.49362	5.29E-4	0.003769	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.60424	0.19;0.19;1.06	5.55	5.55	0.83447	Cadherin (2);Cadherin-like (1);	0.070917	0.64402	D	0.000012	T	0.76513	0.3998	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.981;0.988	T	0.78386	-0.2224	10	0.66056	D	0.02	-15.6978	17.6826	0.88248	0.0:1.0:0.0:0.0	.	590;603	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	C	603;603;515	ENSP00000439766:R603C;ENSP00000325954:R603C;ENSP00000417771:R515C	ENSP00000325954:R603C	R	+	1	0	CDHR3	105448208	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	5.359000	0.66074	2.615000	0.88500	0.655000	0.94253	CGT		0.498	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	
PARP12	64761	broad.mit.edu	37	7	139726106	139726106	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:139726106C>T	ENST00000263549.3	-	11	2544	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	557	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCGCTCGTCCACGGCCTTCC	0.572																																						uc003vvl.1																			0				ovary(3)	3						c.(1669-1671)GTG>GTA		poly ADP-ribose polymerase 12							97.0	89.0	92.0					7																	139726106		2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139726106C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1671G>A	7.37:g.139726106C>T						PARP12_uc003vvk.1_Silent_p.V343V|PARP12_uc010lnf.1_RNA	p.V557V	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			11	2545	-	Melanoma(164;0.0142)		557			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.1671G>A	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.97|10.97	1.502202|1.502202	0.26949|0.26949	.|.	.|.	ENSG00000059378|ENSG00000059378	ENST00000489809|ENST00000484111	T|.	0.53423|.	0.62|.	4.77|4.77	1.09|1.09	0.20402|0.20402	.|.	.|.	.|.	.|.	.|.	T|.	0.57373|.	0.2049|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50423|.	-0.8830|.	6|.	0.44086|.	T|.	0.13|.	.|.	9.2965|9.2965	0.37819|0.37819	0.0:0.5808:0.0:0.4192|0.0:0.5808:0.0:0.4192	.|.	.|.	.|.	.|.	R|X	152|29	ENSP00000417606:G152R|.	ENSP00000417606:G152R|.	G|W	-|-	1|2	0|0	PARP12|PARP12	139372575|139372575	0.000000|0.000000	0.05858|0.05858	0.903000|0.903000	0.35520|0.35520	0.732000|0.732000	0.41865|0.41865	-0.644000|-0.644000	0.05415|0.05415	0.171000|0.171000	0.19730|0.19730	0.461000|0.461000	0.40582|0.40582	GGA|TGG		0.572	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	
CNTNAP2	26047	broad.mit.edu	37	7	146818164	146818164	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:146818164G>A	ENST00000361727.3	+	6	1364	c.848G>A	c.(847-849)cGc>cAc	p.R283H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	283	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> C. {ECO:0000269|PubMed:18179895}.		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)			GTCATTGAGCGCCAGGGGCGG	0.532										HNSCC(39;0.1)																												uc003weu.1																			0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(847-849)CGC>CAC		cell recognition molecule Caspr2 precursor							155.0	125.0	135.0					7																	146818164		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.chr7:146818164G>A	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.848G>A	7.37:g.146818164G>A	ENSP00000354778:p.Arg283His	HNSCC(39;0.1)					p.R283H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1364	+	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)	283		R -> C.	Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.848G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648839	0.87958	.	.	ENSG00000174469	ENST00000361727	D	0.81821	-1.54	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000007	D	0.89491	0.6730	M	0.79123	2.44	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.87553	0.2466	10	0.34782	T	0.22	.	18.6867	0.91567	0.0:0.0:1.0:0.0	.	283	Q9UHC6	CNTP2_HUMAN	H	283	ENSP00000354778:R283H	ENSP00000354778:R283H	R	+	2	0	CNTNAP2	146449097	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	9.714000	0.98744	2.756000	0.94617	0.563000	0.77884	CGC		0.532	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
KMT2C	58508	broad.mit.edu	37	7	151962124	151962124	+	Splice_Site	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:151962124T>C	ENST00000262189.6	-	8	1401	c.1183A>G	c.(1183-1185)Aaa>Gaa	p.K395E	KMT2C_ENST00000355193.2_Splice_Site_p.K395E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	395					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAAACTTACTTGCAGTTCTGG	0.403																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1183-1185)AAA>GAA		myeloid/lymphoid or mixed-lineage leukemia 3							169.0	158.0	162.0					7																	151962124		2203	4297	6500	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962124T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1184+1A>G	7.37:g.151962124T>C							p.K395E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1402	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	395			PHD-type 2.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1183A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642328	0.67244	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87650	-2.28;-2.28	4.53	4.53	0.55603	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.150247	0.29486	U	0.012012	D	0.83862	0.5346	L	0.37800	1.135	0.80722	D	1	P	0.47253	0.892	P	0.45753	0.492	D	0.84060	0.0374	10	0.41790	T	0.15	.	14.1658	0.65475	0.0:0.0:0.0:1.0	.	395	Q8NEZ4	MLL3_HUMAN	E	395	ENSP00000262189:K395E;ENSP00000347325:K395E	ENSP00000262189:K395E	K	-	1	0	MLL3	151593057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	1.791000	0.52520	0.377000	0.23210	AAA		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Missense_Mutation
NEFM	4741	broad.mit.edu	37	8	24772112	24772112	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr8:24772112C>T	ENST00000221166.5	+	1	1588	c.806C>T	c.(805-807)gCg>gTg	p.A269V	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.A269V|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.A269V|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	269	Coil 2A.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.A269V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCGACGGCGCTGAAGGAA	0.592																																						uc003xed.3																			1	Substitution - Missense(1)		endometrium(1)	breast(1)	1						c.(805-807)GCG>GTG		neurofilament, medium polypeptide 150kDa isoform							123.0	103.0	110.0					8																	24772112		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772112C>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.806C>T	8.37:g.24772112C>T	ENSP00000221166:p.Ala269Val					NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	p.A269V	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	839	+		Prostate(55;0.157)	269			Rod.|Coil 2A.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.806C>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826474	0.71143	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89343	-2.5;-2.5;-2.5	4.69	4.69	0.59074	Filament (1);	0.000000	0.43747	D	0.000531	D	0.92100	0.7496	L	0.41824	1.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93160	0.6557	10	0.72032	D	0.01	.	17.9719	0.89116	0.0:1.0:0.0:0.0	.	269;269	E7EMV2;P07197	.;NFM_HUMAN	V	269	ENSP00000221166:A269V;ENSP00000427872:A269V;ENSP00000410137:A269V	ENSP00000221166:A269V	A	+	2	0	NEFM	24828017	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	6.008000	0.70739	2.312000	0.78011	0.467000	0.42956	GCG		0.592	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
CA9	768	broad.mit.edu	37	9	35674152	35674152	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35674152C>T	ENST00000378357.4	+	1	300	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	66	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGAGGATCTGCCCAGTGAAGA	0.592																																						uc003zxo.3																			0				ovary(4)|skin(1)	5						c.(196-198)CCC>TCC		carbonic anhydrase IX precursor							55.0	54.0	55.0					9																	35674152		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35674152C>T	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.196C>T	9.37:g.35674152C>T	ENSP00000367608:p.Pro66Ser					C9orf100_uc003zxl.2_RNA|CA9_uc003zxn.1_RNA|CA9_uc003zxp.3_Missense_Mutation_p.P66S	p.P66S	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	238	+	all_epithelial(49;0.217)		66			Extracellular.|Proteoglycan-like (PG).		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.196C>T	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859362	0.32884	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.72051	-0.62	5.01	-0.26	0.12967	.	.	.	.	.	T	0.54951	0.1890	N	0.25485	0.75	0.21020	N	0.99981	B;B	0.19331	0.035;0.02	B;B	0.16289	0.015;0.007	T	0.49624	-0.8920	9	0.87932	D	0	.	8.8487	0.35186	0.0:0.5493:0.0:0.4507	.	66;66	F5H404;Q16790	.;CAH9_HUMAN	S	66	ENSP00000367608:P66S	ENSP00000367608:P66S	P	+	1	0	CA9	35664152	0.002000	0.14202	0.464000	0.27143	0.598000	0.36846	0.245000	0.18142	0.054000	0.16065	-0.150000	0.13652	CCC		0.592	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
NPR2	4882	broad.mit.edu	37	9	35810291	35810291	+	IGR	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35810291G>T	ENST00000342694.2	+	0	3686				HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.Q406K|SPAG8_ENST00000396638.2_Missense_Mutation_p.Q406K|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGTTGCTCCTGGCGGTAGTCG	0.607																																						uc003zye.2																			0				ovary(1)	1						c.(1216-1218)CAG>AAG		sperm associated antigen 8 isoform 2							169.0	166.0	167.0					9																	35810291		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35810291G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810291G>T						SPAG8_uc003zyf.2_Missense_Mutation_p.Q323K|SPAG8_uc003zyg.2_Missense_Mutation_p.Q406K	p.Q406K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		6	1331	-	all_epithelial(49;0.161)		406					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1216C>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004178	0.02112	.	.	ENSG00000137098	ENST00000340291;ENST00000396638	T;T	0.29655	1.56;1.59	5.42	-3.71	0.04424	.	1.850590	0.02678	N	0.109307	T	0.20861	0.0502	N	0.25647	0.755	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.19516	-1.0303	10	0.18276	T	0.48	0.4799	9.3657	0.38223	0.1338:0.0:0.1931:0.673	.	406;406	E9PDV6;Q99932-2	.;.	K	406	ENSP00000340982:Q406K;ENSP00000379878:Q406K	ENSP00000340982:Q406K	Q	-	1	0	SPAG8	35800291	0.000000	0.05858	0.000000	0.03702	0.727000	0.41649	-0.059000	0.11731	-0.684000	0.05183	-0.150000	0.13652	CAG		0.607	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
MELK	9833	broad.mit.edu	37	9	36651764	36651764	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:36651764G>T	ENST00000298048.2	+	12	1127	c.943G>T	c.(943-945)Gct>Tct	p.A315S	MELK_ENST00000543751.1_Missense_Mutation_p.A283S|MELK_ENST00000541717.1_Missense_Mutation_p.A315S|MELK_ENST00000538311.1_Missense_Mutation_p.A121S|MELK_ENST00000545008.1_Missense_Mutation_p.A244S|MELK_ENST00000536329.1_Missense_Mutation_p.A244S|MELK_ENST00000536860.1_Missense_Mutation_p.A267S|MELK_ENST00000536987.1_Missense_Mutation_p.A184S	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	315	UBA-like.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TCACCTCACGGCTACCTATCT	0.403																																					Ovarian(82;980 1317 7225 14391 18624)	uc003zzn.2																			0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(943-945)GCT>TCT		maternal embryonic leucine zipper kinase							238.0	235.0	236.0					9																	36651764		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36651764G>T	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.943G>T	9.37:g.36651764G>T	ENSP00000298048:p.Ala315Ser					MELK_uc011lpm.1_Missense_Mutation_p.A184S|MELK_uc011lpn.1_Missense_Mutation_p.A315S|MELK_uc011lpo.1_Missense_Mutation_p.A121S|MELK_uc010mll.2_Missense_Mutation_p.A283S|MELK_uc011lpp.1_Missense_Mutation_p.A267S|MELK_uc010mlm.2_Missense_Mutation_p.A244S|MELK_uc011lpq.1_Missense_Mutation_p.A121S|MELK_uc011lpr.1_Missense_Mutation_p.A244S|MELK_uc011lps.1_Missense_Mutation_p.A235S	p.A315S	NM_014791	NP_055606	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		12	1081	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	315					A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.943G>T	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631520	0.87660	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.76060	-0.78;-0.06;-0.15;0.39;-0.22;-0.99;-0.7;-0.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.997;0.999;0.968	D	0.85578	0.1238	10	0.56958	D	0.05	-12.9219	15.2097	0.73209	0.0:0.0:1.0:0.0	.	235;244;267;315;244;283;315	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	S	315;121;184;244;267;244;315;283	ENSP00000298048:A315S;ENSP00000438226:A121S;ENSP00000439184:A184S;ENSP00000445452:A244S;ENSP00000439792:A267S;ENSP00000443550:A244S;ENSP00000437804:A315S;ENSP00000441596:A283S	ENSP00000298048:A315S	A	+	1	0	MELK	36641764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.315000	0.65810	2.652000	0.90054	0.655000	0.94253	GCT		0.403	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
SPATA31A2	642265	broad.mit.edu	37	9	39888189	39888189	+	Silent	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:39888189G>T	ENST00000456183.2	+	4	1205	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	392					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGAAACAGCTGCCCGGACCTC	0.488																																						uc004abp.2																			0					0						c.(1174-1176)CTG>CTT		hypothetical protein LOC642265							11.0	11.0	11.0					9																	39888189		1250	2674	3924	SO:0001819	synonymous_variant	642265					integral to membrane		g.chr9:39888189G>T			9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A2"""	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.1176G>T	9.37:g.39888189G>T							p.L392L	NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	1205	+			392						Silent	SNP	ENST00000456183.2	37	c.1176G>T	CCDS43809.1																																																																																				0.488	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037739.1	NM_001040065	
SH2D3C	10044	broad.mit.edu	37	9	130502108	130502108	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:130502108delC	ENST00000314830.8	-	11	2373	c.2260delG	c.(2260-2262)gagfs	p.E754fs	SH2D3C_ENST00000429553.1_Frame_Shift_Del_p.E400fs|SH2D3C_ENST00000373277.4_Frame_Shift_Del_p.E597fs|SH2D3C_ENST00000373276.3_Frame_Shift_Del_p.E686fs|SH2D3C_ENST00000420366.1_Frame_Shift_Del_p.E596fs|SH2D3C_ENST00000373274.3_Frame_Shift_Del_p.E594fs	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	754	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGTCACACTCCAGCAGGGTG	0.657																																						uc004bsc.2																			0				ovary(1)	1						c.(2260-2262)GAGfs		SH2 domain containing 3C isoform a							21.0	18.0	19.0					9																	130502108		2200	4293	6493	SO:0001589	frameshift_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130502108delC	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2260delG	9.37:g.130502108delC	ENSP00000317817:p.Glu754fs					SH2D3C_uc010mxo.2_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.2_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.3_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.1_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsa.2_Frame_Shift_Del_p.E597fs|SH2D3C_uc004bsb.2_Frame_Shift_Del_p.E686fs	p.E754fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			11	2402	-			754			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Frame_Shift_Del	DEL	ENST00000314830.8	37	c.2260delG	CCDS6877.1																																																																																				0.657	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
MAGEB18	286514	broad.mit.edu	37	X	26157158	26157158	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:26157158G>A	ENST00000325250.1	+	2	243	c.56G>A	c.(55-57)cGt>cAt	p.R19H		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	19						cytoplasm (GO:0005737)		p.R19H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACCAGGCTCGTTGTGAGAAT	0.532																																						uc004dbq.1																			1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)	1						c.(55-57)CGT>CAT		melanoma antigen family B, 18							53.0	47.0	49.0					X																	26157158		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157158G>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.56G>A	X.37:g.26157158G>A	ENSP00000314543:p.Arg19His						p.R19H	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	243	+			19						Missense_Mutation	SNP	ENST00000325250.1	37	c.56G>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	6.418	0.445275	0.12164	.	.	ENSG00000176774	ENST00000325250	T	0.07021	3.23	4.15	1.44	0.22558	Melanoma associated antigen, MAGE, N-terminal (1);	1.078760	0.07144	N	0.847833	T	0.09905	0.0243	L	0.56199	1.76	0.09310	N	1	P	0.41313	0.745	B	0.39119	0.291	T	0.31943	-0.9925	10	0.52906	T	0.07	.	5.6272	0.17488	0.3652:0.0:0.6348:0.0	.	19	Q96M61	MAGBI_HUMAN	H	19	ENSP00000314543:R19H	ENSP00000314543:R19H	R	+	2	0	MAGEB18	26067079	0.001000	0.12720	0.001000	0.08648	0.026000	0.11368	0.249000	0.18216	0.165000	0.19558	-0.190000	0.12839	CGT		0.532	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699	
CT55	54967	broad.mit.edu	37	X	134294392	134294392	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:134294392T>C	ENST00000276241.6	-	3	594	c.368A>G	c.(367-369)gAa>gGa	p.E123G	CXorf48_ENST00000344129.2_Missense_Mutation_p.E123G	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		123										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AATATTATCTTCATTTATAGA	0.308																																						uc004eyk.1																			0					0						c.(367-369)GAA>GGA		hypothetical protein LOC54967 isoform 1							20.0	19.0	19.0					X																	134294392		2202	4288	6490	SO:0001583	missense	54967							g.chrX:134294392T>C																												ENST00000276241.6:c.368A>G	X.37:g.134294392T>C	ENSP00000276241:p.Glu123Gly					CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	p.E123G	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN			3	1024	-	Acute lymphoblastic leukemia(192;0.000127)		123					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.368A>G	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	T	9.647	1.140636	0.21205	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.50813	0.73;0.73	2.93	1.66	0.24008	.	0.530450	0.15689	N	0.249532	T	0.31765	0.0807	L	0.38175	1.15	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.16660	-1.0395	10	0.39692	T	0.17	-2.9105	4.5443	0.12073	0.0:0.163:0.0:0.837	.	123	Q8WUE5	CX048_HUMAN	G	123	ENSP00000276241:E123G;ENSP00000343893:E123G	ENSP00000276241:E123G	E	-	2	0	CXorf48	134122058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.147000	0.16202	0.348000	0.23949	0.481000	0.45027	GAA		0.308	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1		
