#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_ACHILLES_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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MTOR	2475	broad.mit.edu	37	1	11273609	11273609	+	Missense_Mutation	SNP	C	C	T	rs532979867		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:11273609C>T	ENST00000361445.4	-	21	3208	c.3132G>A	c.(3130-3132)atG>atA	p.M1044I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1044					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTGAGGTGTTCATGACCCAGA	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22240	0.0		0.0	False		,,,				2504	0.0						uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(3130-3132)ATG>ATA		FK506 binding protein 12-rapamycin associated							91.0	93.0	92.0					1																	11273609		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11273609C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3132G>A	1.37:g.11273609C>T	ENSP00000354558:p.Met1044Ile						p.M1044I	NM_004958	NP_004949	P42345	MTOR_HUMAN			21	3253	-			1044					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3132G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	3.739	-0.053878	0.07362	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64438	-0.1	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.106705	0.64402	D	0.000004	T	0.33118	0.0852	N	0.01235	-0.94	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36578	-0.9742	10	0.10902	T	0.67	-18.5389	16.2727	0.82629	0.0:0.8676:0.1324:0.0	.	1044	P42345	MTOR_HUMAN	I	1044	ENSP00000354558:M1044I	ENSP00000354558:M1044I	M	-	3	0	MTOR	11196196	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.042000	0.41222	2.713000	0.92767	0.655000	0.94253	ATG		0.448	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		23	99	0	0	0	0.005443	0	23	99				
UBR4	23352	broad.mit.edu	37	1	19423145	19423145	+	Splice_Site	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:19423145C>G	ENST00000375254.3	-	92	13418		c.e92-1		UBR4_ENST00000543981.1_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375267.2_Splice_Site|UBR4_ENST00000467272.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000429347.2_Splice_Site|UBR4_ENST00000375224.1_Splice_Site	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		tcttcttcatctAGGGGAGAA	0.493																																							uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.e92-1		retinoblastoma-associated factor 600							182.0	188.0	186.0					1																	19423145		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19423145C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13391-1G>C	1.37:g.19423145C>G						UBR4_uc010ocv.1_Splice_Site_p.D27_splice|UBR4_uc009vph.2_Splice_Site_p.D98_splice|UBR4_uc010ocw.1_Splice_Site_p.D128_splice|UBR4_uc001bbg.2_Splice_Site_p.D175_splice|UBR4_uc001bbh.2_Splice_Site_p.D173_splice	p.D4464_splice	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	92	13395	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)						A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	SNP	ENST00000375254.3	37	c.13391_splice	CCDS189.1																																																																																				0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Intron	26	121	0	0	0	0.003954	0	26	121				
STMN1	3925	broad.mit.edu	37	1	26228095	26228095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:26228095C>A	ENST00000399728.1	-	4	628	c.265G>T	c.(265-267)Gag>Tag	p.E89*	STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E89*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E89*|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E89*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E89*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	89	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTTGTTCTCTTCTATTGCC	0.438																																							uc001bkz.2		NA																	0					0						c.(265-267)GAG>TAG		stathmin 1 isoform a							244.0	233.0	237.0					1																	26228095		2203	4300	6503	SO:0001587	stop_gained	3925				cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding	g.chr1:26228095C>A	J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.265G>T	1.37:g.26228095C>A	ENSP00000382633:p.Glu89*					STMN1_uc010oev.1_Nonsense_Mutation_p.E89*|STMN1_uc001bla.2_Nonsense_Mutation_p.E89*|STMN1_uc001blb.2_Nonsense_Mutation_p.E82*|STMN1_uc001blc.2_Nonsense_Mutation_p.E89*	p.E89*	NM_203401	NP_981946	P16949	STMN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)	4	629	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	89			Potential.		A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Nonsense_Mutation	SNP	ENST00000399728.1	37	c.265G>T	CCDS269.1	.	.	.	.	.	.	.	.	.	.	C	38	6.801835	0.97849	.	.	ENSG00000117632	ENST00000426559;ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.9906	0.92789	0.0:1.0:0.0:0.0	.	.	.	.	X	89	.	ENSP00000350531:E89X	E	-	1	0	STMN1	26100682	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GAG		0.438	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	NM_005563		25	57	1	0	3.7963e-18	0.00333	8.44892e-18	25	57				
LCK	3932	broad.mit.edu	37	1	32751144	32751144	+	Missense_Mutation	SNP	C	C	G	rs200540406		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:32751144C>G	ENST00000336890.5	+	13	1495	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V	LCK_ENST00000333070.4_Missense_Mutation_p.L483V|Y_RNA_ENST00000516641.1_RNA|LCK_ENST00000373564.3_Missense_Mutation_p.L460V	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GATTCAGAACCTGGAGCGAGG	0.592			T	TRB@	T-ALL								C|||	1	0.000199681	0.0	0.0	5008	,	,		20647	0.001		0.0	False		,,,				2504	0.0						uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(1357-1359)CTG>GTG		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)	C	VAL/LEU,VAL/LEU	0,4406		0,0,2203	98.0	96.0	97.0		1357,1357	4.1	1.0	1		97	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LCK	NM_001042771.1,NM_005356.3	32,32	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	453/510,453/510	32751144	2,13004	2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32751144C>G	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1357C>G	1.37:g.32751144C>G	ENSP00000337825:p.Leu453Val					LCK_uc001buy.2_Missense_Mutation_p.L453V|LCK_uc001buz.2_Missense_Mutation_p.L483V|LCK_uc001bva.2_Missense_Mutation_p.L460V	p.L453V	NM_005356	NP_005347	P06239	LCK_HUMAN			13	1495	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	453			Protein kinase.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.1357C>G	CCDS359.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.28	1.889354	0.33348	0.0	2.33E-4	ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000333070;ENST00000436824;ENST00000373564	D;D;D	0.83075	-1.68;-1.68;-1.68	5.05	4.13	0.48395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41001	D	0.000973	T	0.74238	0.3690	N	0.10837	0.055	0.49483	D	0.999795	P;D;P	0.57899	0.905;0.981;0.884	P;P;P	0.59595	0.834;0.86;0.72	T	0.71761	-0.4495	10	0.02654	T	1	.	9.3999	0.38426	0.143:0.7801:0.0:0.0769	.	460;483;453	Q573B4;P06239-3;P06239	.;.;LCK_HUMAN	V	453;193;483;480;460	ENSP00000337825:L453V;ENSP00000328213:L483V;ENSP00000362665:L460V	ENSP00000328213:L483V	L	+	1	2	LCK	32523731	0.868000	0.29978	1.000000	0.80357	0.997000	0.91878	0.951000	0.29135	1.272000	0.44329	0.650000	0.86243	CTG		0.592	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		27	38	0	0	0	0.007291	0	27	38				
GJA9	81025	broad.mit.edu	37	1	39340775	39340775	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:39340775C>A	ENST00000360786.3	-	1	1248	c.996G>T	c.(994-996)gaG>gaT	p.E332D	MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.E332D|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Missense_Mutation_p.E332D			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	332					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTGTGGAAATCTCATTAGAAA	0.318																																							uc001cct.1		NA																	0					0						c.(994-996)GAG>GAT		gap junction protein, alpha 9, 59kDa							78.0	81.0	80.0					1																	39340775		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340775C>A	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.996G>T	1.37:g.39340775C>A	ENSP00000354020:p.Glu332Asp					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.E332D	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1277	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	332			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.996G>T	CCDS432.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420117	0.25552	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97710	-4.5;-4.41;-4.41	5.03	3.13	0.36017	.	.	.	.	.	D	0.92299	0.7557	N	0.19112	0.55	0.21802	N	0.999533	B	0.18461	0.028	B	0.17433	0.018	T	0.83303	-0.0027	9	0.14252	T	0.57	.	5.086	0.14682	0.1513:0.6219:0.1464:0.0804	.	332	P57773	CXA9_HUMAN	D	332	ENSP00000406846:E332D;ENSP00000350415:E332D;ENSP00000354020:E332D	ENSP00000350415:E332D	E	-	3	2	GJA9	39113362	0.001000	0.12720	0.087000	0.20705	0.737000	0.42083	0.173000	0.16724	0.775000	0.33450	0.655000	0.94253	GAG		0.318	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		13	35	1	0	4.3838e-07	0.001855	9.07416e-07	13	35				
PABPC4	8761	broad.mit.edu	37	1	40038208	40038208	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:40038208T>C	ENST00000372857.3	-	2	1036	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.I82V|PABPC4_ENST00000372858.3_Missense_Mutation_p.I82V|PABPC4_ENST00000372856.3_Missense_Mutation_p.I82V|PABPC4_ENST00000529216.1_5'Flank	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	82	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATGATGCGGATTGGCTTTCCC	0.448																																							uc010oiv.1		NA																	0					0						c.(244-246)ATC>GTC		poly A binding protein, cytoplasmic 4 isoform 2							103.0	95.0	98.0					1																	40038208		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40038208T>C	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.244A>G	1.37:g.40038208T>C	ENSP00000361948:p.Ile82Val					PABPC4_uc001cdl.2_Missense_Mutation_p.I82V|PABPC4_uc001cdm.2_Missense_Mutation_p.I82V	p.I82V	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	1142	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	82			RRM 1.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.244A>G	CCDS438.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.108156	0.56291	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856;ENST00000451091	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.045924	0.85682	N	0.000000	T	0.19525	0.0469	L	0.41710	1.295	0.47994	D	0.999565	B;B;B	0.23490	0.008;0.086;0.019	B;B;B	0.33454	0.074;0.164;0.074	T	0.09400	-1.0676	10	0.19590	T	0.45	.	10.3272	0.43801	0.0:0.073:0.0:0.9269	.	82;82;82	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	82	ENSP00000361953:I82V;ENSP00000361949:I82V;ENSP00000361948:I82V;ENSP00000361947:I82V;ENSP00000406675:I82V	ENSP00000361947:I82V	I	-	1	0	PABPC4	39810795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.190000	0.72057	2.181000	0.69327	0.460000	0.39030	ATC		0.448	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		17	46	0	0	0	0.007413	0	17	46				
SLC5A9	200010	broad.mit.edu	37	1	48703369	48703369	+	Silent	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:48703369G>T	ENST00000438567.2	+	11	1363	c.1311G>T	c.(1309-1311)ctG>ctT	p.L437L	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000236495.5_Silent_p.L462L|SLC5A9_ENST00000533824.1_Silent_p.L458L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	437					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TGGTGTTCCTGGTTGTCATCA	0.577																																							uc001cro.2		NA																	0				ovary(3)	3						c.(1309-1311)CTG>CTT		solute carrier family 5 (sodium/glucose							186.0	145.0	159.0					1																	48703369		2203	4300	6503	SO:0001819	synonymous_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48703369G>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1311G>T	1.37:g.48703369G>T						SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.L462L|SLC5A9_uc010omt.1_Silent_p.L451L|SLC5A9_uc001crp.2_Silent_p.L104L|SLC5A9_uc010omu.1_Silent_p.L104L|SLC5A9_uc009vyt.1_5'Flank	p.L437L	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			11	1363	+			437			Helical; (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	c.1311G>T	CCDS30709.2																																																																																				0.577	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		11	41	1	0	4.68919e-08	0.000673	9.98561e-08	11	41				
MROH7	374977	broad.mit.edu	37	1	55138776	55138776	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:55138776C>G	ENST00000421030.2	+	8	1897	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	MROH7_ENST00000409996.1_Missense_Mutation_p.Q106E|MROH7_ENST00000339553.5_Missense_Mutation_p.Q538E|MROH7_ENST00000395690.2_Missense_Mutation_p.Q538E|MROH7_ENST00000454855.2_Missense_Mutation_p.Q56E|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.Q538E|MROH7_ENST00000545244.1_Missense_Mutation_p.Q106E	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	538						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCTTTACCATCAGACCCTGGA	0.627																																							uc010ooe.1		NA																	0					0						c.(1612-1614)CAG>GAG		hypothetical protein LOC374977							39.0	39.0	39.0					1																	55138776		1886	4122	6008	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55138776C>G	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1612C>G	1.37:g.55138776C>G	ENSP00000396622:p.Gln538Glu					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.Q106E|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.Q56E|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.Q538E|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.Q538E	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			8	1936	+			538					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1612C>G	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639465	0.47153	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51;3.51	4.0	3.07	0.35406	.	0.500488	0.17075	N	0.188017	T	0.17619	0.0423	L	0.57536	1.79	0.31356	N	0.681967	D;P;B	0.61697	0.99;0.756;0.147	D;B;B	0.73380	0.98;0.405;0.184	T	0.02966	-1.1088	10	0.39692	T	0.17	-14.8142	9.4817	0.38904	0.0:0.7839:0.2161:0.0	.	538;538;106	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	E	538;106;563;538;106;56;538	ENSP00000396622:Q538E;ENSP00000442333:Q106E;ENSP00000343211:Q538E;ENSP00000387048:Q106E;ENSP00000401130:Q56E;ENSP00000379044:Q538E	ENSP00000343211:Q538E	Q	+	1	0	HEATR8	54911364	0.976000	0.34144	0.815000	0.32552	0.899000	0.52679	3.047000	0.49854	0.883000	0.36040	-0.182000	0.12963	CAG		0.627	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		8	24	0	0	0	0.004482	0	8	24				
SGIP1	84251	broad.mit.edu	37	1	67147963	67147963	+	Missense_Mutation	SNP	C	C	A	rs531131210		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:67147963C>A	ENST00000371037.4	+	15	1303	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A413E|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	409	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGACAAAGAGCAACTCCACCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19298	0.0		0.0	False		,,,				2504	0.001						uc001dcr.2		NA																	0				ovary(3)	3						c.(1225-1227)GCA>GAA		SH3-domain GRB2-like (endophilin) interacting							85.0	97.0	93.0					1																	67147963		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147963C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1226C>A	1.37:g.67147963C>A	ENSP00000360076:p.Ala409Glu					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.A176E	p.A409E	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1443	+			409			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1226C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009123	0.75046	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03181	4.02;4.02	5.19	5.19	0.71726	.	0.235594	0.43747	D	0.000531	T	0.05456	0.0144	L	0.44542	1.39	0.80722	D	1	D;B	0.60575	0.988;0.056	P;B	0.54759	0.76;0.01	T	0.53063	-0.8491	10	0.33940	T	0.23	-18.702	19.0749	0.93156	0.0:1.0:0.0:0.0	.	412;409	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	E	413;412;412;409	ENSP00000237247:A413E;ENSP00000360076:A409E	ENSP00000237247:A413E	A	+	2	0	SGIP1	66920551	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.280000	0.51677	2.570000	0.86706	0.455000	0.32223	GCA		0.512	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		50	73	1	0	2.29192e-23	0.00361	5.17868e-23	50	73				
VCAM1	7412	broad.mit.edu	37	1	101190420	101190420	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:101190420G>C	ENST00000294728.2	+	4	1003	c.902G>C	c.(901-903)aGa>aCa	p.R301T	VCAM1_ENST00000347652.2_Missense_Mutation_p.R301T|VCAM1_ENST00000370119.4_Missense_Mutation_p.R239T|VCAM1_ENST00000370115.1_Missense_Mutation_p.R301T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	301	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAAAAACAGAAAAGAGGTG	0.378																																							uc001dti.2		NA																	0				central_nervous_system(1)	1						c.(901-903)AGA>ACA		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						92.0	93.0	92.0					1																	101190420		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101190420G>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.902G>C	1.37:g.101190420G>C	ENSP00000294728:p.Arg301Thr					VCAM1_uc001dtj.2_Missense_Mutation_p.R301T|VCAM1_uc010ouj.1_Missense_Mutation_p.R239T	p.R301T	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	4	1022	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	301			Ig-like C2-type 3.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.902G>C	CCDS773.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.892259	0.33442	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.38	2.43	0.29744	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.729658	0.14152	N	0.337956	T	0.04137	0.0115	N	0.13371	0.34	0.09310	N	1	B;D;B	0.54601	0.025;0.967;0.059	B;P;B	0.59703	0.069;0.862;0.045	T	0.34279	-0.9835	10	0.17832	T	0.49	-7.5112	6.6305	0.22853	0.2923:0.0:0.7077:0.0	.	239;301;301	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	T	239;301;301;301	ENSP00000359137:R239T;ENSP00000304611:R301T;ENSP00000294728:R301T;ENSP00000359133:R301T	ENSP00000294728:R301T	R	+	2	0	VCAM1	100963008	0.608000	0.26966	0.075000	0.20258	0.948000	0.59901	0.706000	0.25690	0.745000	0.32763	0.651000	0.88453	AGA		0.378	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		3	24	0	0	0	0.000248	0	3	24				
VCAM1	7412	broad.mit.edu	37	1	101194797	101194797	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:101194797C>G	ENST00000294728.2	+	5	1164	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.L293V|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	355	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGACAGCCCTCTGAGCGGGAA	0.527																																							uc001dti.2		NA																	0				central_nervous_system(1)	1						c.(1063-1065)CTG>GTG		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						107.0	108.0	108.0					1																	101194797		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194797C>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1063C>G	1.37:g.101194797C>G	ENSP00000294728:p.Leu355Val					VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.L293V	p.L355V	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1183	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	355			Ig-like C2-type 4.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1063C>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849667	0.32699	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.70631	-0.5;-0.5	5.41	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075770	0.53938	D	0.000046	T	0.74160	0.3680	M	0.85542	2.76	0.80722	D	1	P;D	0.76494	0.75;0.999	B;D	0.71656	0.403;0.974	T	0.72947	-0.4137	10	0.13108	T	0.6	-11.6025	6.561	0.22485	0.1509:0.7065:0.0:0.1426	.	293;355	E9PDD1;P19320	.;VCAM1_HUMAN	V	293;355	ENSP00000359137:L293V;ENSP00000294728:L355V	ENSP00000294728:L355V	L	+	1	2	VCAM1	100967385	0.991000	0.36638	0.959000	0.39883	0.280000	0.26924	1.429000	0.34903	2.826000	0.97356	0.655000	0.94253	CTG		0.527	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		18	73	0	0	0	0.006122	0	18	73				
ADORA3	140	broad.mit.edu	37	1	112042915	112042915	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:112042915C>T	ENST00000241356.4	-	2	1019	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	205					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GAGTTTGTTCCGAATGATGTA	0.428																																							uc001ebh.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(613-615)CGG>CAG		adenosine A3 receptor isoform 2	Adenosine(DB00640)|Aminophylline(DB01223)						137.0	133.0	134.0					1																	112042915		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042915C>T	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.614G>A	1.37:g.112042915C>T	ENSP00000241356:p.Arg205Gln					ADORA3_uc001ebg.3_Intron|ADORA3_uc001ebf.2_Intron	p.R205Q	NM_000677	NP_000668	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	1381	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	205			Cytoplasmic (By similarity).		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.614G>A	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985805	0.35036	.	.	ENSG00000121933	ENST00000241356	T	0.42131	0.98	4.92	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36524	0.0970	L	0.59912	1.85	0.26373	N	0.976863	D	0.64830	0.994	P	0.62491	0.903	T	0.11470	-1.0586	9	0.30078	T	0.28	.	8.4612	0.32929	0.0:0.7559:0.0:0.2441	.	205	P33765	AA3R_HUMAN	Q	205	ENSP00000241356:R205Q	ENSP00000241356:R205Q	R	-	2	0	ADORA3	111844438	0.603000	0.26924	0.994000	0.49952	0.022000	0.10575	1.142000	0.31540	0.591000	0.29711	-0.140000	0.14226	CGG		0.428	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		10	33	0	0	0	0.006214	0	10	33				
FAM20B	9917	broad.mit.edu	37	1	179013004	179013004	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:179013004G>T	ENST00000263733.4	+	2	358	c.22G>T	c.(22-24)Gtg>Ttg	p.V8L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	8						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GCAGCGAGTCGTGCTGTTAGC	0.468																																							uc001gmc.2		NA																	0				ovary(3)	3						c.(22-24)GTG>TTG		hypothetical protein LOC9917 precursor							104.0	87.0	93.0					1																	179013004		2203	4300	6503	SO:0001583	missense	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179013004G>T	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.22G>T	1.37:g.179013004G>T	ENSP00000263733:p.Val8Leu						p.V8L	NM_014864	NP_055679	O75063	XYLK_HUMAN			2	315	+			8			Helical; Signal-anchor for type II membrane protein; (Potential).		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	c.22G>T	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016759	0.75161	.	.	ENSG00000116199	ENST00000440702;ENST00000263733	D	0.88277	-2.36	5.92	5.92	0.95590	.	0.053557	0.85682	D	0.000000	D	0.84056	0.5388	L	0.40543	1.245	0.80722	D	1	P	0.43973	0.823	B	0.32980	0.156	D	0.83760	0.0214	10	0.36615	T	0.2	-16.6603	20.3167	0.98654	0.0:0.0:1.0:0.0	.	8	O75063	XYLK_HUMAN	L	8	ENSP00000263733:V8L	ENSP00000263733:V8L	V	+	1	0	FAM20B	177279627	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.476000	0.97823	2.809000	0.96659	0.557000	0.71058	GTG		0.468	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		7	30	1	0	5.18039e-06	0.00308	1.04313e-05	7	30				
KIF14	9928	broad.mit.edu	37	1	200539118	200539118	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:200539118C>T	ENST00000367350.4	-	23	4020	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTGTTCTTCATCAAACTCC	0.289																																							uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(3580-3582)ATG>ATA		kinesin family member 14							115.0	118.0	117.0					1																	200539118		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200539118C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3582G>A	1.37:g.200539118C>T	ENSP00000356319:p.Met1194Ile					KIF14_uc010ppj.1_Missense_Mutation_p.M703I	p.M1194I	NM_014875	NP_055690	Q15058	KIF14_HUMAN			23	4021	-			1194			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3582G>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266256	0.59540	.	.	ENSG00000118193	ENST00000367350	T	0.16457	2.34	5.68	5.68	0.88126	.	0.053961	0.85682	D	0.000000	T	0.21145	0.0509	M	0.62723	1.935	0.38235	D	0.941157	P	0.39831	0.69	B	0.33454	0.164	T	0.05716	-1.0868	10	0.40728	T	0.16	.	19.763	0.96332	0.0:1.0:0.0:0.0	.	1194	Q15058	KIF14_HUMAN	I	1194	ENSP00000356319:M1194I	ENSP00000356319:M1194I	M	-	3	0	KIF14	198805741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.563000	0.60823	2.675000	0.91044	0.591000	0.81541	ATG		0.289	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		18	46	0	0	0	0.007413	0	18	46				
USH2A	7399	broad.mit.edu	37	1	216172259	216172259	+	Silent	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:216172259T>C	ENST00000307340.3	-	34	7013	c.6627A>G	c.(6625-6627)ttA>ttG	p.L2209L	USH2A_ENST00000366943.2_Silent_p.L2209L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2209	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTACCAGGTAAAACGTATT	0.373										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6625-6627)TTA>TTG		usherin isoform B							110.0	109.0	109.0					1																	216172259		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216172259T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6627A>G	1.37:g.216172259T>C		HNSCC(13;0.011)					p.L2209L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	34	7014	-			2209			Extracellular (Potential).|Fibronectin type-III 8.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6627A>G	CCDS31025.1																																																																																				0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	23	0	0	0	0.006214	0	9	23				
OR2M1P	388762	broad.mit.edu	37	1	248285607	248285607	+	IGR	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:248285607C>T								OR2L13 (21383 upstream) : OR2M5 (22842 downstream)																							TGCTACATTGCCATTTGCCAC	0.433																																							uc001idy.1		NA																	0					0						c.(169-171)GCC>GTC		RecName: Full=Olfactory receptor 2M5;																																				SO:0001628	intergenic_variant	388762							g.chr1:248285607C>T																													1.37:g.248285607C>T							p.A57V	NR_002141						1	170	+									Missense_Mutation	SNP		37	c.170C>T																																																																																				0	0.433									28	139	0	0	0	0.00632	0	28	139				
RET	5979	broad.mit.edu	37	10	43596058	43596058	+	Silent	SNP	G	G	A	rs151267865		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:43596058G>A	ENST00000355710.3	+	2	457	c.225G>A	c.(223-225)acG>acA	p.T75T	RET_ENST00000340058.5_Silent_p.T75T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	75					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCTACGGCACGTACCGCACAC	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				g|||	1	0.000199681	0.0008	0.0	5008	,	,		13161	0.0		0.0	False		,,,				2504	0.0				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(223-225)ACG>ACA		ret proto-oncogene isoform a	Sunitinib(DB01268)	A	,	6,4400	11.4+/-27.6	0,6,2197	64.0	54.0	57.0		225,225	1.6	0.0	10	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,	75/1073,75/1115	43596058	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43596058G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.225G>A	10.37:g.43596058G>A						RET_uc001jak.1_Silent_p.T75T	p.T75T	NM_020975	NP_066124	P07949	RET_HUMAN			2	415	+		Ovarian(717;0.0423)	75			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.225G>A	CCDS7200.1																																																																																				0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		7	26	0	0	0	0.001984	0	7	26				
SLC25A16	8034	broad.mit.edu	37	10	70248311	70248311	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:70248311G>A	ENST00000609923.1	-	7	784	c.686C>T	c.(685-687)tCa>tTa	p.S229L	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.S131L	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	229					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATTGTCTGATGAAGGTCTGCC	0.383																																							uc001joi.2		NA																	0					0						c.(685-687)TCA>TTA		solute carrier family 25, member 16							80.0	74.0	76.0					10																	70248311		2203	4300	6503	SO:0001583	missense	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70248311G>A	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.686C>T	10.37:g.70248311G>A	ENSP00000476815:p.Ser229Leu					SLC25A16_uc010qix.1_Missense_Mutation_p.S95L|SLC25A16_uc010qiy.1_Missense_Mutation_p.S131L|SLC25A16_uc001joj.2_Missense_Mutation_p.S131L	p.S229L	NM_152707	NP_689920	P16260	GDC_HUMAN			7	1138	-			229					Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	c.686C>T	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870093	0.33069	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.81247	-1.46;-1.47	5.99	5.08	0.68730	Mitochondrial carrier domain (2);	0.060635	0.64402	D	0.000002	T	0.69788	0.3150	L	0.32530	0.975	0.58432	D	0.999998	B	0.18610	0.029	B	0.12837	0.008	T	0.62877	-0.6761	10	0.25106	T	0.35	-29.9337	11.9104	0.52735	0.0664:0.1213:0.8123:0.0	.	229	P16260	GDC_HUMAN	L	229;131	ENSP00000265870:S229L;ENSP00000443914:S131L	ENSP00000265870:S229L	S	-	2	0	SLC25A16	69918317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.881000	0.87252	2.857000	0.98124	0.650000	0.86243	TCA		0.383	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			5	31	0	0	0	0.00308	0	5	31				
SAMD8	142891	broad.mit.edu	37	10	76924415	76924415	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:76924415C>T	ENST00000542569.1	+	3	694	c.591C>T	c.(589-591)atC>atT	p.I197I	SAMD8_ENST00000372687.4_Silent_p.I197I|SAMD8_ENST00000372690.3_Silent_p.I260I	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	197					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCCTAGAATCCCATGGGCCT	0.408																																							uc001jwx.1		NA																	0					0						c.(589-591)ATC>ATT		sterile alpha motif domain containing 8							222.0	198.0	206.0					10																	76924415		2203	4300	6503	SO:0001819	synonymous_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76924415C>T	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.591C>T	10.37:g.76924415C>T						SAMD8_uc001jwy.1_Silent_p.I197I	p.I197I	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN			3	694	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		197					Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.591C>T	CCDS53543.1																																																																																				0.408	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		14	79	0	0	0	0.003163	0	14	79				
F2	2147	broad.mit.edu	37	11	46744741	46744741	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:46744741G>A	ENST00000311907.5	+	5	384	c.328G>A	c.(328-330)Gag>Aag	p.E110K	F2_ENST00000530231.1_Missense_Mutation_p.E110K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	110	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TAACTGTGCTGAGGGTCTGGG	0.582																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3		NA																	0				ovary(3)	3						c.(328-330)GAG>AAG		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						140.0	138.0	139.0					11																	46744741		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46744741G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.328G>A	11.37:g.46744741G>A	ENSP00000308541:p.Glu110Lys					F2_uc001ndg.3_RNA	p.E110K	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	5	371	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	110			Kringle 1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.328G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608521	0.28623	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.66099	-0.19;-0.19;-0.19	5.33	2.18	0.27775	Kringle (5);Kringle-like fold (1);	0.731527	0.14136	N	0.339007	T	0.51160	0.1658	L	0.41961	1.31	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.47711	-0.9096	10	0.87932	D	0	.	6.978	0.24688	0.1768:0.4449:0.3783:0.0	.	110	P00734	THRB_HUMAN	K	110;110;100	ENSP00000308541:E110K;ENSP00000433907:E110K;ENSP00000387413:E100K	ENSP00000308541:E110K	E	+	1	0	F2	46701317	0.001000	0.12720	0.106000	0.21319	0.961000	0.63080	0.353000	0.20130	0.135000	0.18707	0.511000	0.50034	GAG		0.582	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			25	95	0	0	0	0.00632	0	25	95				
GLYAT	10249	broad.mit.edu	37	11	58480243	58480243	+	Silent	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:58480243T>C	ENST00000344743.3	-	4	447	c.306A>G	c.(304-306)ttA>ttG	p.L102L	GLYAT_ENST00000278400.3_Silent_p.L102L|GLYAT_ENST00000529732.1_Silent_p.L102L	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	102					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTTGAATCTGTAAATGCTGTT	0.408																																							uc001nnb.2		NA																	0					0						c.(304-306)TTA>TTG		glycine-N-acyltransferase isoform a	Glycine(DB00145)						214.0	187.0	196.0					11																	58480243		2201	4295	6496	SO:0001819	synonymous_variant	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58480243T>C	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.306A>G	11.37:g.58480243T>C						GLYAT_uc001nnc.2_Silent_p.L102L	p.L102L	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			4	461	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	102					O14833|Q96QK7	Silent	SNP	ENST00000344743.3	37	c.306A>G	CCDS7970.1																																																																																				0.408	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			15	39	0	0	0	0.003163	0	15	39				
STX3	6809	broad.mit.edu	37	11	59564823	59564823	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:59564823C>T	ENST00000337979.4	+	10	1401	c.854C>T	c.(853-855)tCc>tTc	p.S285F	STX3_ENST00000300150.7_Missense_Mutation_p.S254F|STX3_ENST00000535361.1_Missense_Mutation_p.S248F|STX3_ENST00000437946.2_Intron|STX3_ENST00000529177.1_Intron	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	285			S -> P (in dbSNP:rs34753750).		exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATTGGACTTTCCGTTGGGCTG	0.403																																							uc001nog.2		NA																	0				ovary(2)	2						c.(853-855)TCC>TTC		syntaxin 3							237.0	212.0	220.0					11																	59564823		2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59564823C>T	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.854C>T	11.37:g.59564823C>T	ENSP00000338562:p.Ser285Phe					STX3_uc010rkx.1_Intron|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_Missense_Mutation_p.S151F	p.S285F	NM_004177	NP_004168	Q13277	STX3_HUMAN			10	1044	+			285			Extracellular (Potential).		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.854C>T	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440399	0.43326	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000528805;ENST00000530221	T;T;T;T;T	0.51817	1.91;1.63;0.69;0.81;1.87	5.22	4.32	0.51571	.	0.381557	0.29253	N	0.012690	T	0.59998	0.2235	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.984;0.995	D;D	0.75484	0.983;0.986	T	0.55509	-0.8130	10	0.27785	T	0.31	-7.0882	12.8336	0.57761	0.0:0.9205:0.0:0.0795	.	248;285	Q13277-2;Q13277	.;STX3_HUMAN	F	254;285;248;200;72	ENSP00000300150:S254F;ENSP00000338562:S285F;ENSP00000441649:S248F;ENSP00000431386:S200F;ENSP00000434836:S72F	ENSP00000300150:S254F	S	+	2	0	STX3	59321399	1.000000	0.71417	0.996000	0.52242	0.370000	0.29829	4.299000	0.59073	1.217000	0.43442	-0.123000	0.14984	TCC		0.403	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		8	58	0	0	0	0.006214	0	8	58				
RAB3IL1	5866	broad.mit.edu	37	11	61672051	61672051	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:61672051A>T	ENST00000394836.2	-	7	1023	c.866T>A	c.(865-867)gTg>gAg	p.V289E	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.V263E	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	289					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GGCCACCTTCACTGTGGGCAG	0.617																																							uc001nso.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(865-867)GTG>GAG		RAB3A interacting protein (rabin3)-like 1							89.0	67.0	75.0					11																	61672051		2202	4299	6501	SO:0001583	missense	5866						protein binding	g.chr11:61672051A>T	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.866T>A	11.37:g.61672051A>T	ENSP00000378313:p.Val289Glu					RAB3IL1_uc001nsp.2_Missense_Mutation_p.V263E	p.V289E	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			7	1024	-			289					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.866T>A	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225604	0.79576	.	.	ENSG00000167994	ENST00000394836;ENST00000301773	T;T	0.49720	0.77;0.77	4.82	1.1	0.20463	.	0.689084	0.14358	N	0.324662	T	0.54983	0.1892	M	0.79123	2.44	0.34565	D	0.712787	P;B	0.44429	0.835;0.22	P;B	0.50791	0.65;0.116	T	0.62774	-0.6783	10	0.62326	D	0.03	-12.8666	5.9671	0.19330	0.5978:0.2559:0.1463:0.0	.	263;289	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	E	289;263	ENSP00000378313:V289E;ENSP00000301773:V263E	ENSP00000301773:V263E	V	-	2	0	RAB3IL1	61428627	0.926000	0.31397	0.010000	0.14722	0.377000	0.30045	3.492000	0.53259	0.066000	0.16515	0.379000	0.24179	GTG		0.617	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		23	19	0	0	0	0.00278	0	23	19				
NXF1	10482	broad.mit.edu	37	11	62566046	62566046	+	Splice_Site	SNP	C	C	T	rs548866961		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:62566046C>T	ENST00000532297.1	-	12	1647	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T	NXF1_ENST00000533048.1_5'Flank|NXF1_ENST00000294172.2_Splice_Site_p.A340T|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	340					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGCGAATGGCGCTGTCAAGA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17497	0.0		0.0	False		,,,				2504	0.001						uc001nvf.1		NA																	0				skin(3)	3						c.(1018-1020)GCC>ACC		nuclear RNA export factor 1 isoform 1							148.0	137.0	141.0					11																	62566046		2201	4299	6500	SO:0001630	splice_region_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62566046C>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1017-1G>A	11.37:g.62566046C>T						NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.A383T|NXF1_uc010rmh.1_3'UTR	p.A340T	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			11	1154	-			340			Interaction with THOC4.|LRR 3.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1018G>A	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986139	0.53934	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.57107	0.42;0.42;0.42	5.77	4.85	0.62838	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.101479	0.64402	N	0.000002	T	0.41971	0.1182	L	0.45285	1.41	0.80722	D	1	B;B	0.25169	0.119;0.091	B;B	0.20384	0.029;0.026	T	0.24225	-1.0166	10	0.12430	T	0.62	-12.691	13.0302	0.58837	0.0:0.921:0.0:0.079	.	383;340	E9PIN3;Q9UBU9	.;NXF1_HUMAN	T	340;340;383	ENSP00000294172:A340T;ENSP00000436679:A340T;ENSP00000435742:A383T	ENSP00000294172:A340T	A	-	1	0	NXF1	62322622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.558000	0.45879	1.435000	0.47434	0.650000	0.86243	GCC		0.502	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	Missense_Mutation	30	59	0	0	0	0.002096	0	30	59				
C2CD3	26005	broad.mit.edu	37	11	73849987	73849987	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:73849987C>T	ENST00000334126.7	-	5	959	c.733G>A	c.(733-735)Gag>Aag	p.E245K	C2CD3_ENST00000539061.1_Missense_Mutation_p.E245K|C2CD3_ENST00000313663.7_Missense_Mutation_p.E245K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	245					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCAGGGTTCTCTGCAAAGCAT	0.378																																							uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(733-735)GAG>AAG		C2 calcium-dependent domain containing 3							72.0	69.0	70.0					11																	73849987		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73849987C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.733G>A	11.37:g.73849987C>T	ENSP00000334379:p.Glu245Lys					C2CD3_uc001ouv.2_Missense_Mutation_p.E245K	p.E245K	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			5	960	-	Breast(11;4.16e-06)		245					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.733G>A		.	.	.	.	.	.	.	.	.	.	C	19.24	3.789735	0.70337	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.10288	2.89;2.9	5.84	5.84	0.93424	.	0.455974	0.24940	N	0.034390	T	0.24353	0.0590	M	0.72118	2.19	0.37047	D	0.897396	D;P	0.53885	0.963;0.855	P;B	0.50537	0.643;0.338	T	0.02333	-1.1175	10	0.56958	D	0.05	-14.2892	17.0537	0.86527	0.0:1.0:0.0:0.0	.	245;245	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	K	245	ENSP00000334379:E245K;ENSP00000323339:E245K	ENSP00000289350:E245K	E	-	1	0	C2CD3	73527635	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.039000	0.49791	2.771000	0.95319	0.655000	0.94253	GAG		0.378	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		11	19	0	0	0	0.000978	0	11	19				
NAALAD2	10003	broad.mit.edu	37	11	89880534	89880534	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:89880534A>C	ENST00000534061.1	+	3	461	c.231A>C	c.(229-231)gaA>gaC	p.E77D	NAALAD2_ENST00000525171.1_Missense_Mutation_p.E77D|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E77D|NAALAD2_ENST00000375944.3_Missense_Mutation_p.E77D	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	77					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGGAACAGAACAAAATTTCT	0.378																																							uc001pdf.3		NA																	0				pancreas(1)|skin(1)	2						c.(229-231)GAA>GAC		N-acetylated alpha-linked acidic dipeptidase 2							73.0	72.0	73.0					11																	89880534		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89880534A>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.231A>C	11.37:g.89880534A>C	ENSP00000432481:p.Glu77Asp					NAALAD2_uc009yvx.2_Missense_Mutation_p.E77D|NAALAD2_uc009yvy.2_Missense_Mutation_p.E77D|NAALAD2_uc001pdd.2_Missense_Mutation_p.E77D|NAALAD2_uc001pde.2_Missense_Mutation_p.E77D	p.E77D	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			3	340	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	77			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.231A>C	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.622591	0.28889	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.52754	0.65;1.02;1.02;1.02;1.02;1.02	5.13	2.77	0.32553	.	0.074798	0.53938	D	0.000047	T	0.42063	0.1186	M	0.65677	2.01	0.45415	D	0.998398	B;B;B;B;B	0.29590	0.0;0.0;0.0;0.25;0.0	B;B;B;B;B	0.26517	0.0;0.001;0.001;0.07;0.001	T	0.29027	-1.0025	9	.	.	.	-20.7316	10.1333	0.42691	0.7956:0.0:0.2044:0.0	.	77;77;77;77;77	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	D	77;77;77;77;77;23	ENSP00000431989:E77D;ENSP00000432481:E77D;ENSP00000320083:E77D;ENSP00000435249:E77D;ENSP00000365111:E77D;ENSP00000435670:E23D	.	E	+	3	2	NAALAD2	89520182	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	1.902000	0.39848	0.901000	0.36495	-0.268000	0.10319	GAA		0.378	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		20	26	0	0	0	0.001216	0	20	26				
B3GAT1	27087	broad.mit.edu	37	11	134253852	134253852	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:134253852G>T	ENST00000524765.1	-	3	4887	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	B3GAT1_ENST00000392580.1_Missense_Mutation_p.L115I|B3GAT1_ENST00000312527.4_Missense_Mutation_p.L115I|B3GAT1_ENST00000537389.1_Missense_Mutation_p.L128I|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	115					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGCCAGTGGAGGTTGGGCACG	0.706																																							uc001qhq.2		NA																	0				ovary(1)	1						c.(343-345)CTC>ATC		beta-1,3-glucuronyltransferase 1							25.0	21.0	22.0					11																	134253852		2195	4288	6483	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253852G>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.343C>A	11.37:g.134253852G>T	ENSP00000433847:p.Leu115Ile					B3GAT1_uc001qhr.2_Missense_Mutation_p.L115I|B3GAT1_uc010scv.1_Missense_Mutation_p.L128I	p.L115I	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	604	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	115			Lumenal (Potential).		Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.343C>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057050	0.93846	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.18	1.05	0.20165	.	0.071801	0.56097	D	0.000021	T	0.81851	0.4910	M	0.77616	2.38	0.80722	D	1	B;D	0.60575	0.378;0.988	P;D	0.77557	0.666;0.99	T	0.77800	-0.2452	10	0.51188	T	0.08	-13.7688	5.9645	0.19318	0.2134:0.2622:0.5244:0.0	.	128;115	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	I	115;115;115;128	ENSP00000376359:L115I;ENSP00000307875:L115I;ENSP00000433847:L115I;ENSP00000445983:L128I	ENSP00000307875:L115I	L	-	1	0	B3GAT1	133759062	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	1.428000	0.34892	0.163000	0.19507	0.561000	0.74099	CTC		0.706	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		9	4	1	0	1.76689e-08	0.006214	3.78986e-08	9	4				
GALNT8	26290	broad.mit.edu	37	12	4835792	4835792	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:4835792G>A	ENST00000252318.2	+	2	643	c.306G>A	c.(304-306)atG>atA	p.M102I	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	102					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TAAAGGCAATGGAAACCAAGG	0.453																																					Colon(108;631 1558 7270 20097 39846)	Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(304-306)ATG>ATA		polypeptide N-acetylgalactosaminyltransferase 8							64.0	61.0	62.0					12																	4835792		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835792G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.306G>A	12.37:g.4835792G>A	ENSP00000252318:p.Met102Ile						p.M102I	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			2	398	+			102			Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.306G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	5.983	0.365251	0.11352	.	.	ENSG00000130035	ENST00000252318	T	0.50548	0.74	3.38	1.41	0.22369	.	6.725170	0.00678	N	0.000671	T	0.27313	0.0670	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12293	-1.0553	10	0.22109	T	0.4	.	3.9909	0.09537	0.131:0.0:0.6385:0.2305	.	102	Q9NY28	GALT8_HUMAN	I	102	ENSP00000252318:M102I	ENSP00000252318:M102I	M	+	3	0	GALNT8	4706053	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	1.006000	0.29847	0.120000	0.18254	0.650000	0.86243	ATG		0.453	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		10	4	0	0	0	0.006214	0	10	4				
PKP2	5318	broad.mit.edu	37	12	33003796	33003796	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:33003796C>G	ENST00000070846.6	-	5	1306	c.1282G>C	c.(1282-1284)Gac>Cac	p.D428H	PKP2_ENST00000340811.4_Missense_Mutation_p.D428H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	428					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AATTTGTTGTCATTGTCTTCA	0.463																																							uc001rlj.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1282-1284)GAC>CAC		plakophilin 2 isoform 2b							134.0	132.0	133.0					12																	33003796		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33003796C>G	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1282G>C	12.37:g.33003796C>G	ENSP00000070846:p.Asp428His					PKP2_uc001rlk.3_Missense_Mutation_p.D428H|PKP2_uc010skj.1_Missense_Mutation_p.D428H	p.D428H	NM_004572	NP_004563	Q99959	PKP2_HUMAN			5	1397	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		428			ARM 3.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1282G>C	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227672	0.79576	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.69926	-0.44;0.64	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.114986	0.64402	D	0.000017	T	0.81456	0.4826	M	0.75615	2.305	0.54753	D	0.999983	D;D;D	0.76494	0.999;0.999;0.997	D;D;P	0.71870	0.957;0.975;0.867	D	0.84060	0.0374	10	0.66056	D	0.02	-6.771	17.9978	0.89189	0.0:1.0:0.0:0.0	.	428;428;428	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	428	ENSP00000342800:D428H;ENSP00000070846:D428H	ENSP00000070846:D428H	D	-	1	0	PKP2	32895063	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.086000	0.71352	2.319000	0.78375	0.462000	0.41574	GAC		0.463	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		28	60	0	0	0	0.002445	0	28	60				
RITA1	84934	broad.mit.edu	37	12	113629333	113629333	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:113629333C>T	ENST00000548278.1	+	4	1213	c.521C>T	c.(520-522)cCg>cTg	p.P174L	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.P198L|C12orf52_ENST00000549621.1_Missense_Mutation_p.P174L	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		174	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						AAGACAGAGCCGGGGCCAGCG	0.637																																							uc001tur.1		NA																	0					0						c.(520-522)CCG>CTG		hypothetical protein LOC84934							37.0	44.0	42.0					12																	113629333		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629333C>T																												ENST00000548278.1:c.521C>T	12.37:g.113629333C>T	ENSP00000449841:p.Pro174Leu					C12orf52_uc009zwg.1_Missense_Mutation_p.P171L|C12orf52_uc001tus.1_Missense_Mutation_p.P174L|C12orf52_uc001tut.1_Missense_Mutation_p.P198L	p.P174L	NM_032848	NP_116237	Q96K30	RITA_HUMAN			4	989	+			174			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.521C>T	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778044	0.31502	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813	T;T;T	0.33216	1.45;1.45;1.42	4.6	-0.962	0.10333	.	0.549952	0.16131	N	0.228166	T	0.20618	0.0496	L	0.59436	1.845	0.09310	N	1	B;B	0.32893	0.389;0.389	B;B	0.28011	0.085;0.052	T	0.20472	-1.0274	10	0.62326	D	0.03	-9.3338	0.7982	0.01070	0.3368:0.3235:0.1484:0.1913	.	198;174	F8VRG5;Q96K30	.;RITA_HUMAN	L	174;174;198;174;171	ENSP00000448289:P174L;ENSP00000449841:P174L;ENSP00000448680:P198L	ENSP00000266813:P171L	P	+	2	0	C12orf52	112113716	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.482000	0.06544	-0.033000	0.13736	-0.119000	0.15052	CCG		0.637	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			4	29	0	0	0	0.000248	0	4	29				
MLEC	9761	broad.mit.edu	37	12	121132786	121132786	+	Missense_Mutation	SNP	T	T	G	rs144903763		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:121132786T>G	ENST00000228506.3	+	3	1002	c.574T>G	c.(574-576)Tac>Gac	p.Y192D	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	192					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						AGGGAAACTCTACATTGAGTT	0.493																																							uc001tyy.1		NA																	0				ovary(1)	1						c.(574-576)TAC>GAC		malectin precursor							195.0	202.0	200.0					12																	121132786		2203	4300	6503	SO:0001583	missense	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121132786T>G	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.574T>G	12.37:g.121132786T>G	ENSP00000228506:p.Tyr192Asp						p.Y192D	NM_014730	NP_055545	Q14165	MLEC_HUMAN			3	725	+			192			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000228506.3	37	c.574T>G	CCDS9206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.33|10.33	1.320972|1.320972	0.23994|0.23994	.|.	.|.	ENSG00000110917|ENSG00000110917	ENST00000535656|ENST00000228506;ENST00000545525	.|.	.|.	.|.	5.44|5.44	1.77|1.77	0.24775|0.24775	.|Malectin (1);	.|0.408349	.|0.28901	.|N	.|0.013764	T|T	0.27027|0.27027	0.0662|0.0662	N|N	0.11427|0.11427	0.14|0.14	0.80722|0.80722	D|D	1|1	.|B	.|0.22146	.|0.065	.|B	.|0.30251	.|0.113	T|T	0.02705|0.02705	-1.1121|-1.1121	6|9	0.87932|0.17369	D|T	0|0.5	.|.	3.553|3.553	0.07854|0.07854	0.2628:0.2948:0.0:0.4424|0.2628:0.2948:0.0:0.4424	.|.	.|192	.|Q14165	.|MLEC_HUMAN	R|D	88|192;109	.|.	ENSP00000441247:L88R|ENSP00000228506:Y192D	L|Y	+|+	2|1	0|0	MLEC|MLEC	119617169|119617169	0.827000|0.827000	0.29292|0.29292	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	0.850000|0.850000	0.27737|0.27737	0.463000|0.463000	0.27118|0.27118	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.493	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		38	93	0	0	0	0.003755	0	38	93				
SETD8	387893	broad.mit.edu	37	12	123892161	123892161	+	Silent	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:123892161C>A	ENST00000402868.3	+	8	1396	c.970C>A	c.(970-972)Cga>Aga	p.R324R	SETD8_ENST00000330479.4_Silent_p.R324R			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	365	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CATCGCCTCCCGAGACATCGC	0.572																																							uc001uew.2		NA																	0					0						c.(970-972)CGA>AGA		SET domain-containing 8							77.0	59.0	65.0					12																	123892161		2203	4300	6503	SO:0001819	synonymous_variant	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123892161C>A	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.970C>A	12.37:g.123892161C>A						SETD8_uc001uex.2_Silent_p.R259R	p.R324R	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	8	1012	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		365			SET.		A8K9D0|Q86W83|Q8TD09	Silent	SNP	ENST00000402868.3	37	c.970C>A	CCDS9247.1																																																																																				0.572	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		4	28	1	0	0.00116845	0.001168	0.00230573	4	28				
ZNF664	144348	broad.mit.edu	37	12	124497004	124497004	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:124497004C>T	ENST00000539644.1	+	6	2143	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	ZNF664_ENST00000538932.2_Missense_Mutation_p.H105Y|ZNF664_ENST00000337815.4_Missense_Mutation_p.H105Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.H105Y|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	105					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)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCTTCAAATTCATATGAGAGT	0.408																																							uc001ufz.2		NA																	0					0						c.(313-315)CAT>TAT		zinc finger protein 664							70.0	81.0	77.0					12																	124497004		2202	4300	6502	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497004C>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.313C>T	12.37:g.124497004C>T	ENSP00000441405:p.His105Tyr					ZNF664_uc001uga.2_Missense_Mutation_p.H105Y|ZNF664_uc001ugb.2_Missense_Mutation_p.H105Y	p.H105Y	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2143	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		105			C2H2-type 4.		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.313C>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893686	0.72639	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000716	D	0.94463	0.8218	M	0.91663	3.23	0.38371	D	0.944861	D	0.89917	1.0	D	0.91635	0.999	D	0.96088	0.9059	10	0.87932	D	0	-25.7597	14.9673	0.71204	0.0:1.0:0.0:0.0	.	105	Q8N3J9	ZN664_HUMAN	Y	105;105;105;105;43	ENSP00000441405:H105Y;ENSP00000376205:H105Y;ENSP00000440645:H105Y;ENSP00000337320:H105Y	ENSP00000337320:H105Y	H	+	1	0	ZNF664	123062957	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	7.564000	0.82326	2.651000	0.90000	0.655000	0.94253	CAT		0.408	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		11	68	0	0	0	0.001368	0	11	68				
IL17D	53342	broad.mit.edu	37	13	21295883	21295883	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:21295883C>A	ENST00000304920.3	+	3	507	c.399C>A	c.(397-399)agC>agA	p.S133R		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	133					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		GCTTCCGCAGCGCCCCTGTCT	0.716																																							uc001unm.2		NA																	0					0						c.(397-399)AGC>AGA		interleukin 17D precursor							44.0	47.0	46.0					13																	21295883		2201	4299	6500	SO:0001583	missense	53342				inflammatory response	extracellular space	cytokine activity	g.chr13:21295883C>A	AY078238	CCDS9292.1	13q11	2008-07-18			ENSG00000172458	ENSG00000172458		"""Interleukins and interleukin receptors"""	5984	protein-coding gene	gene with protein product	"""interleukin 27"""	607587				12097364	Standard	NM_138284		Approved	IL-22, IL-27, IL-17D, IL27, FLJ30846	uc001unm.3	Q8TAD2	OTTHUMG00000016521	ENST00000304920.3:c.399C>A	13.37:g.21295883C>A	ENSP00000302924:p.Ser133Arg						p.S133R	NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)	3	507	+		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	133					B1AM69	Missense_Mutation	SNP	ENST00000304920.3	37	c.399C>A	CCDS9292.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895261	0.72639	.	.	ENSG00000172458	ENST00000304920	T	0.73897	-0.79	5.34	3.27	0.37495	.	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	M	0.92970	3.365	0.49483	D	0.999791	D	0.89917	1.0	D	0.97110	1.0	D	0.90368	0.4378	10	0.72032	D	0.01	-13.0687	12.6954	0.57001	0.0:0.8418:0.0:0.1582	.	133	Q8TAD2	IL17D_HUMAN	R	133	ENSP00000302924:S133R	ENSP00000302924:S133R	S	+	3	2	IL17D	20193883	0.590000	0.26815	0.857000	0.33713	0.517000	0.34286	0.836000	0.27545	1.244000	0.43870	0.650000	0.86243	AGC		0.716	IL17D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044087.1	NM_138284		17	18	1	0	1.15088e-07	0.004007	2.43328e-07	17	18				
LNX2	222484	broad.mit.edu	37	13	28141976	28141976	+	Splice_Site	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:28141976G>C	ENST00000316334.3	-	4	785	c.656C>G	c.(655-657)aCc>aGc	p.T219S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	219					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTGTTGTGTGGCTGCCAAGTT	0.363																																							uc001url.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(655-657)ACC>AGC		ligand of numb-protein X 2							91.0	93.0	93.0					13																	28141976		2203	4300	6503	SO:0001630	splice_region_variant	222484						zinc ion binding	g.chr13:28141976G>C	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.656-1C>G	13.37:g.28141976G>C						LNX2_uc001urm.1_Missense_Mutation_p.T219S	p.T219S	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	4	965	-		Lung SC(185;0.0156)	219					Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.656C>G	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	G	0.378	-0.930212	0.02359	.	.	ENSG00000139517	ENST00000316334	T	0.04862	3.54	5.46	5.46	0.80206	PDZ/DHR/GLGF (1);	0.571893	0.20138	N	0.098429	T	0.05593	0.0147	N	0.17474	0.49	0.35846	D	0.826376	B	0.02656	0.0	B	0.04013	0.001	T	0.40942	-0.9536	10	0.13470	T	0.59	.	19.3153	0.94211	0.0:0.0:1.0:0.0	.	219	Q8N448	LNX2_HUMAN	S	219	ENSP00000325929:T219S	ENSP00000325929:T219S	T	-	2	0	LNX2	27039976	1.000000	0.71417	0.927000	0.36925	0.043000	0.13939	4.684000	0.61686	2.559000	0.86315	0.655000	0.94253	ACC		0.363	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2		Missense_Mutation	5	27	0	0	0	0.001168	0	5	27				
FLT3	2322	broad.mit.edu	37	13	28636175	28636175	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:28636175G>T	ENST00000241453.7	-	3	278	c.197C>A	c.(196-198)gCg>gAg	p.A66E	FLT3_ENST00000537084.1_Missense_Mutation_p.A66E|FLT3_ENST00000380982.4_Missense_Mutation_p.A66E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	66					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGTCTCAACGCACACCCGAG	0.537			"""Mis, O"""		"""AML, ALL"""																																		uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0		p.599_560>LTGSSDNEYFYVDFREYEY(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(196-198)GCG>GAG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						92.0	91.0	91.0					13																	28636175		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636175G>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.197C>A	13.37:g.28636175G>T	ENSP00000241453:p.Ala66Glu					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A66E	p.A66E	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	3	279	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	66			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.197C>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926349	0.34002	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.85	5.78	4.06	0.47325	.	0.840124	0.10723	N	0.641475	T	0.60405	0.2266	N	0.24115	0.695	0.09310	N	1	B;B	0.30973	0.302;0.2	B;B	0.25987	0.065;0.029	T	0.46789	-0.9166	10	0.21540	T	0.41	.	5.542	0.17043	0.1646:0.0:0.6768:0.1586	.	66;66	P36888-2;P36888	.;FLT3_HUMAN	E	66	ENSP00000241453:A66E;ENSP00000370369:A66E;ENSP00000438139:A66E	ENSP00000241453:A66E	A	-	2	0	FLT3	27534175	0.005000	0.15991	0.071000	0.20095	0.250000	0.25880	1.168000	0.31859	0.796000	0.33947	0.557000	0.71058	GCG		0.537	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			66	23	1	0	7.1157e-29	0.00361	1.62019e-28	66	23				
NBEA	26960	broad.mit.edu	37	13	36125086	36125086	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:36125086C>G	ENST00000400445.3	+	43	7257	c.6723C>G	c.(6721-6723)ttC>ttG	p.F2241L	NBEA_ENST00000537702.1_Missense_Mutation_p.F34L|NBEA_ENST00000379939.2_Missense_Mutation_p.F2238L|NBEA_ENST00000540320.1_Missense_Mutation_p.F2241L|NBEA_ENST00000310336.4_Missense_Mutation_p.F2241L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2241					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTTTAATTTCCCTGATCAAG	0.388																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(6721-6723)TTC>TTG		neurobeachin							91.0	82.0	85.0					13																	36125086		1824	4077	5901	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36125086C>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6723C>G	13.37:g.36125086C>G	ENSP00000383295:p.Phe2241Leu					NBEA_uc010abi.2_Missense_Mutation_p.F897L|NBEA_uc010tee.1_Missense_Mutation_p.F34L|NBEA_uc010tef.1_Missense_Mutation_p.F34L|NBEA_uc010teg.1_Missense_Mutation_p.F34L	p.F2241L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	43	6929	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2241					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.6723C>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036663	0.75617	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.19	5.3	-1.39	0.08997	PH-BEACH domain (1);	0.046134	0.85682	D	0.000000	T	0.64472	0.2601	M	0.85462	2.755	0.80722	D	1	P;P	0.50272	0.607;0.933	B;P	0.49665	0.29;0.618	T	0.68808	-0.5311	10	0.56958	D	0.05	.	10.8194	0.46595	0.0:0.2273:0.0:0.7727	.	2241;2238	Q8NFP9;Q5T321	NBEA_HUMAN;.	L	2241;2241;2238;2241;868;34;34	ENSP00000440951:F2241L;ENSP00000383295:F2241L;ENSP00000369271:F2238L;ENSP00000308534:F2241L;ENSP00000440233:F34L	ENSP00000308534:F2241L	F	+	3	2	NBEA	35023086	0.993000	0.37304	0.995000	0.50966	0.997000	0.91878	0.283000	0.18846	-0.160000	0.11002	0.563000	0.77884	TTC		0.388	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		14	27	0	0	0	0.00245	0	14	27				
VWA8	23078	broad.mit.edu	37	13	42277540	42277540	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:42277540G>T	ENST00000379310.3	-	27	3192	c.3124C>A	c.(3124-3126)Ctg>Atg	p.L1042M		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1042						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGTTCTGGCAGAGTCAACCTG	0.368																																							uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(3124-3126)CTG>ATG		hypothetical protein LOC23078 isoform a							94.0	88.0	90.0					13																	42277540		1844	4091	5935	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42277540G>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3124C>A	13.37:g.42277540G>T	ENSP00000368612:p.Leu1042Met						p.L1042M	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	27	3194	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1042					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3124C>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445579	0.63178	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.24151	1.87	5.55	1.31	0.21738	.	0.000000	0.64402	D	0.000004	T	0.47600	0.1454	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.45891	-0.9230	10	0.72032	D	0.01	.	8.1833	0.31324	0.4337:0.0:0.5663:0.0	.	1042	A3KMH1	K0564_HUMAN	M	946;1042	ENSP00000368612:L1042M	ENSP00000251030:L946M	L	-	1	2	KIAA0564	41175540	0.995000	0.38212	0.999000	0.59377	0.995000	0.86356	1.824000	0.39072	0.398000	0.25338	0.655000	0.94253	CTG		0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		8	15	1	0	9.70103e-10	0.000673	2.12704e-09	8	15				
EFNB2	1948	broad.mit.edu	37	13	107148121	107148121	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:107148121C>T	ENST00000245323.4	-	3	623	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	158	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TGAGGATCTTCATGGCTCTTG	0.468																																							uc001vqi.2		NA																	0				ovary(1)	1						c.(472-474)ATG>ATA		ephrin B2 precursor							347.0	303.0	318.0					13																	107148121		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107148121C>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.474G>A	13.37:g.107148121C>T	ENSP00000245323:p.Met158Ile						p.M158I	NM_004093	NP_004084	P52799	EFNB2_HUMAN			3	499	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		158			Extracellular (Potential).		Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.474G>A	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495278	0.85069	.	.	ENSG00000125266	ENST00000245323	D	0.93547	-3.24	5.49	5.49	0.81192	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.96993	0.9018	M	0.84846	2.72	0.80722	D	1	D	0.64830	0.994	D	0.69307	0.963	D	0.97145	0.9827	10	0.62326	D	0.03	.	19.4094	0.94662	0.0:1.0:0.0:0.0	.	158	P52799	EFNB2_HUMAN	I	158	ENSP00000245323:M158I	ENSP00000245323:M158I	M	-	3	0	EFNB2	105946122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.534000	0.82004	2.583000	0.87209	0.561000	0.74099	ATG		0.468	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		38	103	0	0	0	0.006999	0	38	103				
POTEM	641455	broad.mit.edu	37	14	20020001	20020001	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:20020001C>T	ENST00000551509.1	-	1	271	c.220G>A	c.(220-222)Ggg>Agg	p.G74R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	74										endometrium(4)|kidney(1)|lung(4)	9						TTGCCGCTCCCCCTGCACCAG	0.587																																							uc001vwc.3		NA																	0					0						c.(220-222)GGG>AGG		prostate-specific P704P							11.0	21.0	19.0					14																	20020001		313	1129	1442	SO:0001583	missense	641455							g.chr14:20020001C>T		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.220G>A	14.37:g.20020001C>T	ENSP00000452296:p.Gly74Arg					P704P_uc001vwb.3_RNA	p.G74R	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN			1	272	-			74						Missense_Mutation	SNP	ENST00000551509.1	37	c.220G>A	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	c	8.632	0.893857	0.17613	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.32272	1.46	.	.	.	.	.	.	.	.	T	0.45216	0.1331	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29336	-1.0015	6	.	.	.	.	.	.	.	.	74	A6NI47	POTEM_HUMAN	R	74	ENSP00000452296:G74R	.	G	-	1	0	POTEM	19090001	0.000000	0.05858	0.008000	0.14137	0.131000	0.20780	-0.080000	0.11339	-0.397000	0.07691	0.152000	0.16155	GGG		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		190	499	0	0	0	0.00361	0	190	499				
RNASE12	493901	broad.mit.edu	37	14	21058512	21058512	+	Missense_Mutation	SNP	G	G	A	rs201559377		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:21058512G>A	ENST00000556526.1	-	1	470	c.371C>T	c.(370-372)tCc>tTc	p.S124F	RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000555283.1_Intron|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000553849.1_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000398009.2_5'Flank|RP11-14J7.6_ENST00000554006.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	124						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CTCTGTGGGGGAATAGTGGTA	0.458																																							uc001vxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(370-372)TCC>TTC		ribonuclease, RNase A family, 12 (non-active)							83.0	81.0	82.0					14																	21058512		2203	4300	6503	SO:0001583	missense	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058512G>A		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.371C>T	14.37:g.21058512G>A	ENSP00000450580:p.Ser124Phe					RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	p.S124F	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	471	-	all_cancers(95;0.00238)		124						Missense_Mutation	SNP	ENST00000556526.1	37	c.371C>T	CCDS32037.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.474200	0.01044	.	.	ENSG00000258436;ENSG00000206171	ENST00000556526;ENST00000382999	T;T	0.74002	-0.8;-0.8	4.91	3.47E-4	0.14042	Ribonuclease A, domain (3);	1.119980	0.06625	N	0.758055	T	0.62563	0.2438	L	0.31926	0.97	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.46803	-0.9165	10	0.30854	T	0.27	-3.3071	8.4312	0.32759	0.3703:0.0:0.6297:0.0	.	124	Q5GAN4	RNS12_HUMAN	F	124	ENSP00000450580:S124F;ENSP00000372460:S124F	ENSP00000372460:S124F	S	-	2	0	RNASE12;AL163195.1	20128352	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.046000	0.14035	0.091000	0.17302	-0.940000	0.02684	TCC		0.458	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			10	55	0	0	0	0.000978	0	10	55				
C14orf37	145407	broad.mit.edu	37	14	58605804	58605804	+	Silent	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:58605804C>G	ENST00000267485.7	-	2	467	c.273G>C	c.(271-273)tcG>tcC	p.S91S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	91						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTGTTAATCGAGAATGCTT	0.488																																							uc001xdc.2		NA																	0					0						c.(271-273)TCG>TCC		hypothetical protein LOC145407 precursor							124.0	123.0	123.0					14																	58605804		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605804C>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.273G>C	14.37:g.58605804C>G						C14orf37_uc010tro.1_Silent_p.S129S|C14orf37_uc001xdd.2_Silent_p.S91S|C14orf37_uc001xde.2_Silent_p.S91S	p.S91S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	384	-			91			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.273G>C	CCDS32089.1																																																																																				0.488	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		8	66	0	0	0	0.00308	0	8	66				
ARID4A	5926	broad.mit.edu	37	14	58831658	58831658	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:58831658C>G	ENST00000355431.3	+	20	3224	c.2851C>G	c.(2851-2853)Ctg>Gtg	p.L951V	ARID4A_ENST00000395168.3_Missense_Mutation_p.L951V|ARID4A_ENST00000431317.2_Missense_Mutation_p.L951V|ARID4A_ENST00000348476.3_Missense_Mutation_p.L951V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	951	Retinoblastoma protein binding. {ECO:0000255}.				erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCAATGCCTCTGATCGGGCC	0.408																																							uc001xdp.2		NA																	0				ovary(3)|skin(2)|lung(1)	6						c.(2851-2853)CTG>GTG		retinoblastoma-binding protein 1 isoform I							102.0	100.0	101.0					14																	58831658		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831658C>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2851C>G	14.37:g.58831658C>G	ENSP00000347602:p.Leu951Val					ARID4A_uc001xdo.2_Missense_Mutation_p.L951V|ARID4A_uc001xdq.2_Missense_Mutation_p.L951V|ARID4A_uc010apg.1_Missense_Mutation_p.L629V	p.L951V	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	3105	+			951			Retinoblastoma protein binding (Potential).		Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2851C>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444832	0.25987	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14516	2.52;2.53;2.52;2.53;2.5	5.68	4.79	0.61399	.	0.582772	0.15825	N	0.242814	T	0.10895	0.0266	L	0.47716	1.5	0.26499	N	0.974804	P;P;P	0.45827	0.867;0.501;0.763	B;B;B	0.35770	0.21;0.073;0.153	T	0.15954	-1.0419	10	0.25106	T	0.35	-6.5013	9.3225	0.37973	0.1441:0.7836:0.0:0.0723	.	951;951;951	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	V	951;951;951;951;629	ENSP00000347602:L951V;ENSP00000344556:L951V;ENSP00000378597:L951V;ENSP00000397368:L951V;ENSP00000416053:L629V	ENSP00000344556:L951V	L	+	1	2	ARID4A	57901411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.189000	0.50965	1.402000	0.46780	0.557000	0.71058	CTG		0.408	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		24	49	0	0	0	0.00278	0	24	49				
HEATR4	399671	broad.mit.edu	37	14	73957841	73957841	+	Intron	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:73957841G>A	ENST00000553558.1	-	17	3166				HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGGAAGATACGAAAGCAGCTG	0.672																																							uc001xok.1		NA																	0					0						c.(118-120)CGA>CAA		chromosome 14 open reading frame 169							43.0	48.0	46.0					14																	73957841		1948	4146	6094	SO:0001627	intron_variant	79697				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:73957841G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1928C>T	14.37:g.73957841G>A						HEATR4_uc010tua.1_Intron	p.R40Q	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)	1	198	+			40					B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.119G>A	CCDS9815.2																																																																																				0.672	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		5	47	0	0	0	0.001168	0	5	47				
ISM2	145501	broad.mit.edu	37	14	77942387	77942387	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:77942387G>T	ENST00000342219.4	-	7	1323	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	ISM2_ENST00000429906.1_Missense_Mutation_p.L342M|ISM2_ENST00000393684.3_Missense_Mutation_p.L335M|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000412904.1_Missense_Mutation_p.L342M	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	423	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						AGGTCCCGCAGCATCTGGCTC	0.607																																							uc001xtz.2		NA																	0				skin(1)	1						c.(1267-1269)CTG>ATG		isthmin 2 homolog isoform 1							45.0	48.0	47.0					14																	77942387		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77942387G>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1267C>A	14.37:g.77942387G>T	ENSP00000341490:p.Leu423Met					ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.L335M|ISM2_uc010tvl.1_Missense_Mutation_p.L342M	p.L423M	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			7	1341	-			423			AMOP.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1267C>A	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	g	7.947	0.744000	0.15710	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.27557	1.66;1.68;1.68;2.0	4.98	4.1	0.47936	AMOP (3);	0.224877	0.38548	N	0.001641	T	0.31949	0.0813	L	0.45137	1.4	0.37038	D	0.897009	P;P	0.46859	0.86;0.885	B;P	0.45538	0.352;0.484	T	0.25916	-1.0118	10	0.36615	T	0.2	-12.2024	14.8774	0.70504	0.0:0.0:0.855:0.145	.	342;423	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	M	423;342;342;335	ENSP00000341490:L423M;ENSP00000416773:L342M;ENSP00000395387:L342M;ENSP00000377289:L335M	ENSP00000341490:L423M	L	-	1	2	ISM2	77012140	1.000000	0.71417	0.937000	0.37676	0.212000	0.24457	1.057000	0.30492	1.114000	0.41781	-0.217000	0.12591	CTG		0.607	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		67	12	1	0	7.577e-32	0.00361	1.7386e-31	67	12				
TRIP11	9321	broad.mit.edu	37	14	92480716	92480716	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:92480716C>G	ENST00000267622.4	-	7	1402	c.1029G>C	c.(1027-1029)aaG>aaC	p.K343N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	343					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTATTTGTCTCTTTTCCACAT	0.308			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(1027-1029)AAG>AAC		thyroid hormone receptor interactor 11							143.0	120.0	128.0					14																	92480716		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92480716C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1029G>C	14.37:g.92480716C>G	ENSP00000267622:p.Lys343Asn					TRIP11_uc010auf.1_Missense_Mutation_p.K108N	p.K343N	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	7	1817	-			343			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1029G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.402636|1.402636	0.25291|0.25291	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04809	.|3.55	4.98|4.98	2.73|2.73	0.32206|0.32206	.|.	.|0.114382	.|0.64402	.|N	.|0.000019	T|T	0.02193|0.02193	0.0068|0.0068	N|N	0.11201|0.11201	0.11|0.11	0.34440|0.34440	D|D	0.699549|0.699549	.|B;B	.|0.11235	.|0.004;0.002	.|B;B	.|0.12156	.|0.007;0.004	T|T	0.37979|0.37979	-0.9682|-0.9682	5|10	.|0.17369	.|T	.|0.5	.|.	3.5439|3.5439	0.07821|0.07821	0.0:0.2786:0.4143:0.3071|0.0:0.2786:0.4143:0.3071	.|.	.|108;343	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	Q|N	88|343;108	.|ENSP00000267622:K343N	.|ENSP00000267622:K343N	E|K	-|-	1|3	0|2	TRIP11|TRIP11	91550469|91550469	0.983000|0.983000	0.35010|0.35010	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	0.240000|0.240000	0.18042|0.18042	1.213000|1.213000	0.43380|0.43380	0.561000|0.561000	0.74099|0.74099	GAG|AAG		0.308	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			15	32	0	0	0	0.003163	0	15	32				
SLC25A47	283600	broad.mit.edu	37	14	100793565	100793565	+	Missense_Mutation	SNP	C	C	T	rs202229264		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:100793565C>T	ENST00000361529.3	+	4	263	c.185C>T	c.(184-186)aCg>aTg	p.T62M	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	62					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCCGTGTGCACGGTGTCCCTG	0.667																																					GBM(11;1289 1351)		uc001yhc.2		NA																	0					0						c.(184-186)ACG>ATG		chromosome 14 open reading frame 68							131.0	130.0	130.0					14																	100793565		2203	4300	6503	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100793565C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.185C>T	14.37:g.100793565C>T	ENSP00000354886:p.Thr62Met					C14orf68_uc001yhd.2_Translation_Start_Site	p.T62M	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			4	258	+		Melanoma(154;0.152)	62			Solcar 1.|Helical; Name=2; (Potential).		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.185C>T	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676021	0.47886	.	.	ENSG00000140107	ENST00000361529	T	0.79141	-1.24	4.85	4.85	0.62838	Mitochondrial carrier domain (2);	0.095483	0.64402	D	0.000001	T	0.69566	0.3125	L	0.27053	0.805	0.80722	D	1	P	0.39696	0.683	B	0.43658	0.426	T	0.71354	-0.4618	10	0.51188	T	0.08	2.9546	10.9047	0.47073	0.0:0.9132:0.0:0.0868	.	62	Q6Q0C1	S2547_HUMAN	M	62	ENSP00000354886:T62M	ENSP00000354886:T62M	T	+	2	0	SLC25A47	99863318	0.997000	0.39634	0.954000	0.39281	0.260000	0.26232	3.577000	0.53885	2.542000	0.85734	0.485000	0.47835	ACG		0.667	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			15	99	0	0	0	0.004007	0	15	99				
BUB1B	701	broad.mit.edu	37	15	40475921	40475921	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:40475921C>G	ENST00000287598.6	+	6	783	c.588C>G	c.(586-588)ttC>ttG	p.F196L	BUB1B_ENST00000412359.3_Missense_Mutation_p.F210L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	196	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTAGACAATTCCAAGCTCGAG	0.398			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														uc001zkx.3		NA	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(586-588)TTC>TTG		budding uninhibited by benzimidazoles 1 beta							82.0	77.0	79.0					15																	40475921		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40475921C>G	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.588C>G	15.37:g.40475921C>G	ENSP00000287598:p.Phe196Leu					BUB1B_uc010ucl.1_Missense_Mutation_p.F59L	p.F196L	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	6	800	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	196			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.588C>G	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914165	0.72983	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.33654	1.4;1.74	5.2	4.29	0.51040	Mad3/BUB1 homology region 1 (1);	0.054455	0.85682	D	0.000000	T	0.47451	0.1446	M	0.75447	2.3	0.44417	D	0.99733	D;P	0.53619	0.961;0.935	P;P	0.53954	0.738;0.551	T	0.49173	-0.8967	10	0.62326	D	0.03	-12.6524	6.3437	0.21337	0.0:0.6779:0.0:0.3221	.	210;196	O60566-3;O60566	.;BUB1B_HUMAN	L	196;210;142	ENSP00000287598:F196L;ENSP00000398470:F210L	ENSP00000287598:F196L	F	+	3	2	BUB1B	38263213	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.825000	0.39081	1.197000	0.43143	0.491000	0.48974	TTC		0.398	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			6	10	0	0	0	0.00308	0	6	10				
PLA2G4D	283748	broad.mit.edu	37	15	42375420	42375420	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:42375420C>G	ENST00000290472.3	-	8	742	c.648G>C	c.(646-648)gaG>gaC	p.E216D		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	216					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGCTCTGTCTCTAGGGCTG	0.622																																							uc001zox.2		NA																	0				large_intestine(1)|skin(1)	2						c.(646-648)GAG>GAC		phospholipase A2, group IVD							67.0	67.0	67.0					15																	42375420		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42375420C>G	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.648G>C	15.37:g.42375420C>G	ENSP00000290472:p.Glu216Asp						p.E216D	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	8	743	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	216					Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.648G>C	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	9.986	1.229587	0.22542	.	.	ENSG00000159337	ENST00000290472	T	0.01234	5.13	3.38	2.44	0.29823	.	0.464971	0.18184	N	0.149029	T	0.01320	0.0043	L	0.31664	0.95	0.24424	N	0.994601	B	0.02656	0.0	B	0.04013	0.001	T	0.46359	-0.9197	10	0.27785	T	0.31	-3.7147	8.1561	0.31169	0.0:0.6467:0.3533:0.0	.	216	Q86XP0	PA24D_HUMAN	D	216	ENSP00000290472:E216D	ENSP00000290472:E216D	E	-	3	2	PLA2G4D	40162712	0.962000	0.33011	0.980000	0.43619	0.903000	0.53119	-0.028000	0.12350	0.739000	0.32628	0.511000	0.50034	GAG		0.622	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		8	15	0	0	0	0.004482	0	8	15				
PML	5371	broad.mit.edu	37	15	74325578	74325578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:74325578G>T	ENST00000268058.3	+	6	1576	c.1480G>T	c.(1480-1482)Gag>Tag	p.E494*	PML_ENST00000435786.2_Nonsense_Mutation_p.E494*|PML_ENST00000268059.6_Nonsense_Mutation_p.E494*|PML_ENST00000569477.1_Nonsense_Mutation_p.E494*|PML_ENST00000395135.3_Nonsense_Mutation_p.E494*|PML_ENST00000565898.1_Nonsense_Mutation_p.E446*|PML_ENST00000354026.6_Nonsense_Mutation_p.E446*|PML_ENST00000564428.1_Nonsense_Mutation_p.E446*|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_Nonsense_Mutation_p.E446*|PML_ENST00000567543.1_Intron|PML_ENST00000436891.3_Nonsense_Mutation_p.E494*|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Nonsense_Mutation_p.E494*	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	494	Interaction with PER2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GATGGAGTCTGAGGAGGGGAA	0.612			T	"""RARA, PAX5"""	"""APL, ALL"""																																		uc002awv.2		NA		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		0				central_nervous_system(2)|kidney(2)|breast(1)	5						c.(1480-1482)GAG>TAG		promyelocytic leukemia protein isoform 1							83.0	74.0	77.0					15																	74325578		2198	4297	6495	SO:0001587	stop_gained	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74325578G>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1480G>T	15.37:g.74325578G>T	ENSP00000268058:p.Glu494*					PML_uc002awm.2_Nonsense_Mutation_p.E494*|PML_uc002awl.2_Intron|PML_uc002awj.1_Nonsense_Mutation_p.E446*|PML_uc002awk.2_Nonsense_Mutation_p.E494*|PML_uc002awn.2_Nonsense_Mutation_p.E494*|PML_uc002awo.2_Nonsense_Mutation_p.E446*|PML_uc002awp.2_Intron|PML_uc002awq.2_Nonsense_Mutation_p.E494*|PML_uc002awr.2_Nonsense_Mutation_p.E494*|PML_uc002aws.2_Nonsense_Mutation_p.E446*|PML_uc002awt.2_Intron|PML_uc002awu.2_Nonsense_Mutation_p.E446*|PML_uc010ule.1_Nonsense_Mutation_p.E55*|PML_uc002awx.2_Nonsense_Mutation_p.E204*|PML_uc002awy.2_5'UTR	p.E494*	NM_033238	NP_150241	P29590	PML_HUMAN			6	1620	+			494					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Nonsense_Mutation	SNP	ENST00000268058.3	37	c.1480G>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420150	0.96111	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000436891;ENST00000268058;ENST00000268059;ENST00000354026;ENST00000417341;ENST00000418568	.	.	.	4.95	4.03	0.46877	.	0.479932	0.16845	N	0.197187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.3505	8.7617	0.34678	0.108:0.0:0.892:0.0	.	.	.	.	X	494;494;494;494;494;446;55;494	.	ENSP00000268058:E494X	E	+	1	0	PML	72112631	0.976000	0.34144	0.776000	0.31678	0.929000	0.56500	2.439000	0.44846	1.182000	0.42928	0.549000	0.68633	GAG		0.612	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		10	19	1	0	7.48243e-07	0.006214	1.53805e-06	10	19				
HAPLN3	145864	broad.mit.edu	37	15	89421266	89421266	+	Nonsense_Mutation	SNP	G	G	A	rs372680045		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:89421266G>A	ENST00000359595.3	-	5	1232	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	HAPLN3_ENST00000562889.1_Nonsense_Mutation_p.R402*	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	340	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CCAAAGCTTCGGACCCCAGGC	0.662																																							uc002bnc.2		NA																	0					0						c.(1018-1020)CGA>TGA		hyaluronan and proteoglycan link protein 3		G	stop/ARG	1,4399	2.1+/-5.4	0,1,2199	51.0	59.0	56.0		1018	4.7	0.8	15		56	0,8598		0,0,4299	no	stop-gained	HAPLN3	NM_178232.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		340/361	89421266	1,12997	2200	4299	6499	SO:0001587	stop_gained	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421266G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.1018C>T	15.37:g.89421266G>A	ENSP00000352606:p.Arg340*					HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Nonsense_Mutation_p.R402*	p.R340*	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			5	1146	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		340			Link 2.		A8K7P0	Nonsense_Mutation	SNP	ENST00000359595.3	37	c.1018C>T	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832324	0.91036	2.27E-4	0.0	ENSG00000140511	ENST00000359595	.	.	.	4.69	4.69	0.59074	.	0.061928	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8354	11.7923	0.52075	0.0:0.0:0.8243:0.1757	.	.	.	.	X	340	.	ENSP00000352606:R340X	R	-	1	2	HAPLN3	87222270	1.000000	0.71417	0.845000	0.33349	0.235000	0.25334	3.329000	0.52060	2.302000	0.77476	0.650000	0.86243	CGA		0.662	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		8	32	0	0	0	0.00308	0	8	32				
GRIN2A	2903	broad.mit.edu	37	16	9923359	9923359	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr16:9923359G>C	ENST00000396573.2	-	10	2237	c.1928C>G	c.(1927-1929)gCt>gGt	p.A643G	GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643G|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486G|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643G|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643G|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	643					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTGTAGCTAGCCAGGAATAT	0.502																																							uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1927-1929)GCT>GGT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						131.0	111.0	118.0					16																	9923359		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9923359G>C		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1928C>G	16.37:g.9923359G>C	ENSP00000379818:p.Ala643Gly					GRIN2A_uc010uym.1_Missense_Mutation_p.A643G|GRIN2A_uc010uyn.1_Missense_Mutation_p.A486G|GRIN2A_uc002czr.3_Missense_Mutation_p.A643G	p.A643G	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			9	2476	-			643			Helical; (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1928C>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917350	0.92249	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.999;1.0;0.994	T	0.79060	-0.1958	9	.	.	.	.	17.9016	0.88906	0.0:0.0:1.0:0.0	.	486;643;643	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	G	643;643;486;643;643	ENSP00000379818:A643G;ENSP00000385872:A643G;ENSP00000441572:A486G;ENSP00000332549:A643G;ENSP00000379820:A643G	.	A	-	2	0	GRIN2A	9830860	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.692000	0.98682	2.465000	0.83290	0.655000	0.94253	GCT		0.502	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			4	59	0	0	0	0.000602	0	4	59				
NOMO1	23420	broad.mit.edu	37	16	14972646	14972646	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr16:14972646C>T	ENST00000287667.7	+	23	2883	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	904						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGTTTCGTTCCAACCTCTTGA	0.537																																							uc002dcv.2		NA																	0				ovary(1)	1						c.(2710-2712)TCC>TCT		nodal modulator 1 precursor							187.0	188.0	188.0					16																	14972646		2197	4300	6497	SO:0001819	synonymous_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14972646C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2712C>T	16.37:g.14972646C>T							p.S904S	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			23	2778	+			904			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	c.2712C>T	CCDS10556.1																																																																																				0.537	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			42	123	0	0	0	0.00361	0	42	123				
GLG1	2734	broad.mit.edu	37	16	74525005	74525005	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr16:74525005A>G	ENST00000422840.2	-	8	1342	c.1343T>C	c.(1342-1344)aTt>aCt	p.I448T	GLG1_ENST00000447066.2_Missense_Mutation_p.I437T|GLG1_ENST00000205061.5_Missense_Mutation_p.I448T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	448					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATGGTGTTCAATCTCCCCCCG	0.522																																							uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(1342-1344)ATT>ACT		golgi apparatus protein 1 isoform 3							177.0	148.0	158.0					16																	74525005		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74525005A>G		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1343T>C	16.37:g.74525005A>G	ENSP00000405984:p.Ile448Thr					GLG1_uc002fcx.2_Missense_Mutation_p.I448T|GLG1_uc002fcw.3_Missense_Mutation_p.I437T|GLG1_uc002fcz.3_Intron	p.I448T	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			8	1393	-			448			Extracellular (Potential).|Cys-rich GLG1 6.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1343T>C	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750462	0.89753	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.81890	-0.0725	9	0.87932	D	0	-5.9872	15.9905	0.80202	1.0:0.0:0.0:0.0	.	448;448;437	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	T	448;437;448	.	ENSP00000205061:I448T	I	-	2	0	GLG1	73082506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.090000	0.94144	2.176000	0.68965	0.533000	0.62120	ATT		0.522	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		19	64	0	0	0	0.001216	0	19	64				
POLR2A	5430	broad.mit.edu	37	17	7417451	7417451	+	Silent	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:7417451C>A	ENST00000322644.6	+	29	6267	c.5868C>A	c.(5866-5868)ctC>ctA	p.L1956L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1956	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTACAGTCTCACAAGCCCGG	0.662																																							uc002ghf.3		NA																	0				pancreas(1)	1						c.(5866-5868)CTC>CTA		DNA-directed RNA polymerase II A							75.0	65.0	69.0					17																	7417451		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417451C>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5868C>A	17.37:g.7417451C>A							p.L1956L	NM_000937	NP_000928	P24928	RPB1_HUMAN			29	6102	+		Prostate(122;0.173)	1956			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].|52; approximate.		A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.5868C>A	CCDS32548.1																																																																																				0.662	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		7	22	1	0	3.09899e-07	0.004482	6.45986e-07	7	22				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	p.Y220C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	8	0	0	0	0.004007	0	14	8				
NLK	51701	broad.mit.edu	37	17	26512286	26512286	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:26512286G>C	ENST00000407008.3	+	8	1949	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTTGGTCTTTGATCCAGTAAG	0.333																																							uc010crj.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1231-1233)GAT>CAT		nemo like kinase							86.0	72.0	77.0					17																	26512286		2202	4300	6502	SO:0001583	missense	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26512286G>C	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1231G>C	17.37:g.26512286G>C	ENSP00000384625:p.Asp411His					NLK_uc010cri.1_RNA	p.D411H	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	8	1443	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		411			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	ENST00000407008.3	37	c.1231G>C	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785437	0.90282	.	.	ENSG00000087095	ENST00000407008	T	0.55234	0.53	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.83692	2.655	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.78481	-0.2187	10	0.87932	D	0	-5.1097	19.0575	0.93072	0.0:0.0:1.0:0.0	.	411	Q9UBE8	NLK_HUMAN	H	411	ENSP00000384625:D411H	ENSP00000384625:D411H	D	+	1	0	NLK	23536413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.758000	0.94735	0.563000	0.77884	GAT		0.333	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		3	8	0	0	0	0.004672	0	3	8				
GOSR2	9570	broad.mit.edu	37	17	45016025	45016025	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:45016025C>T	ENST00000393456.2	+	6	595	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W|GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W|GOSR2_ENST00000576910.2_Missense_Mutation_p.R133W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	180					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CACAGTGATGCGGCTCATCGA	0.493																																							uc002ila.2		NA																	0				ovary(1)|skin(1)	2						c.(538-540)CGG>TGG		golgi SNAP receptor complex member 2 isoform A							277.0	241.0	253.0					17																	45016025		2203	4300	6503	SO:0001583	missense	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45016025C>T	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.538C>T	17.37:g.45016025C>T	ENSP00000377101:p.Arg180Trp					GOSR2_uc010wkh.1_Missense_Mutation_p.R180W|GOSR2_uc002ikz.2_Missense_Mutation_p.R180W	p.R180W	NM_004287	NP_004278	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		6	611	+			180			Cytoplasmic (Potential).		D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.538C>T	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898222	0.72639	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000439730	T;T;T	0.79352	-1.26;-1.26;-1.26	4.84	1.52	0.23074	.	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.90816	0.4705	10	0.87932	D	0	-8.7805	13.6926	0.62556	0.4145:0.5855:0.0:0.0	.	180;180;180	E7EQ34;O14653;O14653-2	.;GOSR2_HUMAN;.	W	180	ENSP00000225567:R180W;ENSP00000377101:R180W;ENSP00000390577:R180W	ENSP00000225567:R180W	R	+	1	2	GOSR2	42371024	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.349000	0.33998	0.262000	0.21774	0.655000	0.94253	CGG		0.493	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			41	139	0	0	0	0.001951	0	41	139				
TTLL6	284076	broad.mit.edu	37	17	46846427	46846427	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:46846427C>T	ENST00000393382.3	-	15	2741	c.2600G>A	c.(2599-2601)aGg>aAg	p.R867K	TTLL6_ENST00000433608.2_Missense_Mutation_p.R560K	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACATGGGTCCCTCATAGCACT	0.507																																							uc010wlo.1		NA																	0					0						c.(2599-2601)AGG>AAG		tubulin tyrosine ligase-like family, member 6							137.0	109.0	118.0					17																	46846427		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46846427C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2600G>A	17.37:g.46846427C>T	ENSP00000377043:p.Arg867Lys					TTLL6_uc002iob.2_Missense_Mutation_p.R560K|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Missense_Mutation_p.R620K|TTLL6_uc002iod.2_Intron	p.R867K	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			16	2635	-			819						Missense_Mutation	SNP	ENST00000393382.3	37	c.2600G>A	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581343	0.28180	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.09	0.947	0.19555	.	.	.	.	.	T	0.25457	0.0619	N	0.20685	0.6	0.09310	N	1	B;B	0.17465	0.003;0.022	B;B	0.17433	0.003;0.018	T	0.20438	-1.0275	8	0.35671	T	0.21	.	7.1089	0.25378	0.0:0.6388:0.0:0.3612	.	819;560	Q8N841;G5E937	TTLL6_HUMAN;.	K	867;560;545;819	.	ENSP00000302547:R560K	R	-	2	0	TTLL6	44201426	0.008000	0.16893	0.013000	0.15412	0.013000	0.08279	0.331000	0.19733	0.140000	0.18849	-0.244000	0.11960	AGG		0.507	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		11	50	0	0	0	0.000673	0	11	50				
CCDC47	57003	broad.mit.edu	37	17	61842114	61842114	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:61842114T>C	ENST00000225726.5	-	3	740	c.358A>G	c.(358-360)Ata>Gta	p.I120V	CCDC47_ENST00000582252.1_Missense_Mutation_p.I120V|CCDC47_ENST00000403162.3_Missense_Mutation_p.I120V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	120					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACAATCGTTATTGGGTCTTTA	0.343																																							uc002jbs.3		NA																	0					0						c.(358-360)ATA>GTA		coiled-coil domain containing 47 precursor							208.0	182.0	191.0					17																	61842114		2201	4299	6500	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61842114T>C	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.358A>G	17.37:g.61842114T>C	ENSP00000225726:p.Ile120Val					CCDC47_uc010ddx.2_Missense_Mutation_p.I120V|CCDC47_uc002jbt.2_Missense_Mutation_p.I120V	p.I120V	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			3	694	-			120					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.358A>G	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084431	0.36758	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.49	5.49	0.81192	.	0.045255	0.85682	D	0.000000	T	0.53578	0.1805	L	0.40543	1.245	0.49915	D	0.999831	B;B	0.20671	0.047;0.028	B;B	0.21917	0.037;0.016	T	0.48603	-0.9021	9	0.25106	T	0.35	-23.3621	14.562	0.68148	0.0:0.0:0.0:1.0	.	120;120	Q96A33-2;Q96A33	.;CCD47_HUMAN	V	120	.	ENSP00000225726:I120V	I	-	1	0	CCDC47	59195846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.112000	0.64634	2.306000	0.77630	0.482000	0.46254	ATA		0.343	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		13	31	0	0	0	0.004007	0	13	31				
SERPINB10	5273	broad.mit.edu	37	18	61582871	61582871	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr18:61582871T>C	ENST00000238508.3	+	2	186	c.127T>C	c.(127-129)Tat>Cat	p.Y43H		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	43					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GACCATAGTGTATTTGGGCGC	0.453																																							uc010xev.1		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(127-129)TAT>CAT		serine (or cysteine) proteinase inhibitor, clade							82.0	82.0	82.0					18																	61582871		2203	4300	6503	SO:0001583	missense	5273					cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	g.chr18:61582871T>C	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.127T>C	18.37:g.61582871T>C	ENSP00000238508:p.Tyr43His					SERPINB2_uc002ljp.1_Missense_Mutation_p.Y184H|SERPINB2_uc002ljq.1_Missense_Mutation_p.Y157H|SERPINB10_uc010xew.1_Missense_Mutation_p.Y43H	p.Y43H	NM_005024	NP_005015	P48595	SPB10_HUMAN			2	217	+		Esophageal squamous(42;0.131)	43					Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.127T>C	CCDS11990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.244|8.244	0.807445|0.807445	0.16467|0.16467	.|.	.|.	ENSG00000242550|ENSG00000242550	ENST00000397996;ENST00000418725|ENST00000238508	T;D|D	0.83335|0.83837	-0.91;-1.71|-1.77	5.85|5.85	3.43|3.43	0.39272|0.39272	.|Serpin domain (3);	.|0.369343	.|0.27936	.|N	.|0.017241	D|D	0.83566|0.83566	0.5282|0.5282	M|M	0.88310|0.88310	2.945|2.945	0.23865|0.23865	N|N	0.996622|0.996622	.|B;B	.|0.18610	.|0.007;0.029	.|B;B	.|0.22753	.|0.023;0.041	T|T	0.75797|0.75797	-0.3191|-0.3191	7|10	0.34782|0.48119	T|T	0.22|0.1	.|.	8.4016|8.4016	0.32590|0.32590	0.0:0.2212:0.0:0.7788|0.0:0.2212:0.0:0.7788	.|.	.|43;43	.|P48595;B2RC45	.|SPB10_HUMAN;.	A|H	255;228|43	ENSP00000381082:V255A;ENSP00000392381:V228A|ENSP00000238508:Y43H	ENSP00000381082:V255A|ENSP00000238508:Y43H	V|Y	+|+	2|1	0|0	SERPINB10|SERPINB10	59733851|59733851	0.755000|0.755000	0.28372|0.28372	0.989000|0.989000	0.46669|0.46669	0.081000|0.081000	0.17604|0.17604	1.316000|1.316000	0.33620|0.33620	1.039000|1.039000	0.40074|0.40074	-0.280000|-0.280000	0.10049|0.10049	GTA|TAT		0.453	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		17	17	0	0	0	0.00499	0	17	17				
FBXW9	84261	broad.mit.edu	37	19	12807158	12807158	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:12807158G>C	ENST00000380339.3	-	1	274	c.238C>G	c.(238-240)Ctg>Gtg	p.L80V	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000587955.1_Missense_Mutation_p.L80V|FBXW9_ENST00000393261.3_Missense_Mutation_p.L80V			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	80	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGAAGGCTCAGAAGGCCCGGC	0.711																																							uc010dyx.2		NA																	0				ovary(1)	1						c.(238-240)CTG>GTG		F-box and WD-40 domain protein 9							15.0	20.0	18.0					19																	12807158		1953	4130	6083	SO:0001583	missense	84261						protein binding	g.chr19:12807158G>C	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.238C>G	19.37:g.12807158G>C	ENSP00000369696:p.Leu80Val					FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.L80V|FBXW9_uc002mun.1_5'UTR	p.L80V	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			1	238	-			80			F-box.		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.238C>G		.	.	.	.	.	.	.	.	.	.	G	18.46	3.629126	0.67015	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.43688	0.94;0.94	5.0	2.8	0.32819	.	0.000000	0.51477	D	0.000095	T	0.53190	0.1781	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.80764	0.986;0.994	T	0.45116	-0.9283	10	0.29301	T	0.29	-16.2585	7.533	0.27693	0.276:0.0:0.724:0.0	.	80;80	Q5XUX1-2;Q5XUX1-3	.;.	V	80	ENSP00000376945:L80V;ENSP00000369696:L80V	ENSP00000369696:L80V	L	-	1	2	FBXW9	12668158	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	1.289000	0.33307	0.498000	0.27948	0.462000	0.41574	CTG		0.711	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		2	3	0	0	0	0.004672	0	2	3				
OR10H2	26538	broad.mit.edu	37	19	15839226	15839226	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:15839226G>A	ENST00000305899.3	+	1	393	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCGCTACGTGGCCATCTGCCA	0.642																																							uc002nbm.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(373-375)GCC>ACC		olfactory receptor, family 10, subfamily H,							66.0	56.0	59.0					19																	15839226		2203	4299	6502	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839226G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.373G>A	19.37:g.15839226G>A	ENSP00000306095:p.Ala125Thr						p.A125T	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	393	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		125			Cytoplasmic (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.373G>A	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.409011	0.83340	.	.	ENSG00000171942	ENST00000305899	T	0.01947	4.54	3.4	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000156	T	0.08935	0.0221	H	0.94964	3.605	0.45227	D	0.998233	P	0.48911	0.917	P	0.44447	0.45	T	0.09164	-1.0687	10	0.87932	D	0	.	12.3469	0.55126	0.0:0.0:1.0:0.0	.	125	O60403	O10H2_HUMAN	T	125	ENSP00000306095:A125T	ENSP00000306095:A125T	A	+	1	0	OR10H2	15700226	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.968000	0.76086	1.446000	0.47643	0.537000	0.68136	GCC		0.642	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			15	13	0	0	0	0.00278	0	15	13				
ZNF43	7594	broad.mit.edu	37	19	21990830	21990830	+	Missense_Mutation	SNP	A	A	C	rs199855387		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:21990830A>C	ENST00000354959.4	-	4	2178	c.2009T>G	c.(2008-2010)aTa>aGa	p.I670R	ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R|ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R|ZNF43_ENST00000594012.1_Missense_Mutation_p.I664R	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGTATGAATTATCTTATGTTT	0.368																																							uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2008-2010)ATA>AGA		zinc finger protein 43																																				SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990830A>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2009T>G	19.37:g.21990830A>C	ENSP00000347045:p.Ile670Arg					ZNF43_uc010ecv.2_Missense_Mutation_p.I664R|ZNF43_uc002nql.2_Missense_Mutation_p.I664R|ZNF43_uc002nqm.2_Missense_Mutation_p.I664R|ZNF43_uc002nqk.2_Missense_Mutation_p.I600R	p.I670R	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	2139	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	670			C2H2-type 18.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.2009T>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.634793	0.00007	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.12465	2.68	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00133	-2.03	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.33752	-0.9856	9	0.02654	T	1	.	4.0493	0.09788	0.179:0.591:0.0:0.23	.	670	P17038	ZNF43_HUMAN	R	669;670	ENSP00000347045:I670R	ENSP00000347045:I670R	I	-	2	0	ZNF43	21782670	0.000000	0.05858	0.000000	0.03702	0.718000	0.41266	-3.559000	0.00431	-1.192000	0.02691	-1.026000	0.02426	ATA		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		3	49	0	0	0	0.000602	0	3	49				
UBA2	10054	broad.mit.edu	37	19	34936003	34936003	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:34936003G>T	ENST00000246548.4	+	8	818	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	UBA2_ENST00000439527.2_Missense_Mutation_p.D154Y	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	250					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AACTGGATATGATCCAGTTAA	0.358																																							uc002nvk.2		NA																	0				ovary(1)	1						c.(748-750)GAT>TAT		SUMO-1 activating enzyme subunit 2							87.0	87.0	87.0					19																	34936003		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34936003G>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.748G>T	19.37:g.34936003G>T	ENSP00000246548:p.Asp250Tyr					UBA2_uc010xrx.1_Missense_Mutation_p.D123Y|UBA2_uc002nvl.2_Missense_Mutation_p.D154Y	p.D250Y	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		8	818	+	Esophageal squamous(110;0.162)		250					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.748G>T	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360516	0.82353	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.60171	0.21;1.37	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.042305	0.85682	D	0.000000	T	0.60560	0.2278	M	0.81341	2.54	0.80722	D	1	P	0.49862	0.929	B	0.43990	0.438	T	0.64067	-0.6494	10	0.02654	T	1	-24.1042	18.524	0.90965	0.0:0.0:1.0:0.0	.	250	Q9UBT2	SAE2_HUMAN	Y	123;250;154	ENSP00000246548:D250Y;ENSP00000437484:D154Y	ENSP00000246548:D250Y	D	+	1	0	UBA2	39627843	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.713000	0.91408	2.736000	0.93811	0.591000	0.81541	GAT		0.358	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		23	35	1	0	7.88262e-20	0.00333	1.76762e-19	23	35				
SPINT2	10653	broad.mit.edu	37	19	38779813	38779813	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:38779813G>A	ENST00000301244.7	+	4	808	c.373G>A	c.(373-375)Gat>Aat	p.D125N	CTB-102L5.4_ENST00000591889.1_Silent_p.A2A|SPINT2_ENST00000587090.1_Missense_Mutation_p.D75N|SPINT2_ENST00000454580.3_Missense_Mutation_p.D68N	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	125					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACTCCAGCGATATGTTCAA	0.557																																							uc002ohr.1		NA																	0					0						c.(373-375)GAT>AAT		serine protease inhibitor, Kunitz type, 2							112.0	103.0	106.0					19																	38779813		2203	4300	6503	SO:0001583	missense	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38779813G>A	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.373G>A	19.37:g.38779813G>A	ENSP00000301244:p.Asp125Asn					SPINT2_uc002ohs.1_Missense_Mutation_p.D68N	p.D125N	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	704	+	all_cancers(60;6.83e-07)		125			Extracellular (Potential).		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	c.373G>A	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281185	0.40394	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.61510	0.42;0.1	4.34	3.25	0.37280	Proteinase inhibitor I2, Kunitz metazoa (1);	0.190621	0.37178	N	0.002218	T	0.30823	0.0777	N	0.19112	0.55	0.09310	N	1	P;B	0.34743	0.466;0.152	B;B	0.19148	0.024;0.021	T	0.08764	-1.0706	10	0.25751	T	0.34	.	6.3279	0.21255	0.139:0.0:0.861:0.0	.	68;125	B4DLU1;O43291	.;SPIT2_HUMAN	N	125;68	ENSP00000301244:D125N;ENSP00000389788:D68N	ENSP00000301244:D125N	D	+	1	0	SPINT2	43471653	0.110000	0.22057	0.083000	0.20561	0.680000	0.39746	1.093000	0.30939	2.271000	0.75665	0.655000	0.94253	GAT		0.557	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			40	53	0	0	0	0.002222	0	40	53				
KDELR1	10945	broad.mit.edu	37	19	48887602	48887602	+	Silent	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:48887602G>C	ENST00000330720.2	-	4	683	c.489C>G	c.(487-489)ctC>ctG	p.L163L	KDELR1_ENST00000597017.1_Silent_p.L101L	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	163					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TCCAGTTGAAGAGATAGAGCG	0.562																																							uc002pjb.1		NA																	0					0						c.(487-489)CTC>CTG		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum							87.0	74.0	78.0					19																	48887602		2203	4300	6503	SO:0001819	synonymous_variant	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48887602G>C	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.489C>G	19.37:g.48887602G>C						KDELR1_uc002pja.1_Silent_p.L101L	p.L163L	NM_006801	NP_006792	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	4	684	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	163			Helical; (Potential).		B2R6N4|Q54A39|Q8NBW7	Silent	SNP	ENST00000330720.2	37	c.489C>G	CCDS12718.1																																																																																				0.562	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			6	27	0	0	0	0.00308	0	6	27				
SIGLEC10	89790	broad.mit.edu	37	19	51918513	51918513	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:51918513C>G	ENST00000339313.5	-	7	1368	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E370Q|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E328Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E360Q|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E270Q|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E418Q|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E335Q|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E360Q|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.E418Q			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	418	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTTCGTGCTCCACTTGAACC	0.672																																							uc002pwo.2		NA																	0				skin(1)	1						c.(1252-1254)GAG>CAG		sialic acid binding Ig-like lectin 10 precursor							60.0	57.0	58.0					19																	51918513		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918513C>G	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1252G>C	19.37:g.51918513C>G	ENSP00000345243:p.Glu418Gln					SIGLEC10_uc002pwp.2_Missense_Mutation_p.E360Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.E360Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.E418Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.E328Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.E370Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.E230Q|SIGLEC10_uc002pws.1_Missense_Mutation_p.E254Q	p.E418Q	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	7	1868	-		all_neural(266;0.0199)	418			Ig-like C2-type 3.|Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1252G>C	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	10.97	1.501463	0.26861	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.74;2.5;2.5;2.74;2.5;2.74	4.71	3.68	0.42216	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.329073	0.26341	N	0.024932	T	0.31482	0.0798	M	0.69358	2.11	0.23107	N	0.998285	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;1.0;0.99;0.966	D;D;D;D;D;D;D;P	0.85130	0.988;0.997;0.99;0.968;0.987;0.994;0.929;0.842	T	0.04128	-1.0975	10	0.62326	D	0.03	.	8.6602	0.34088	0.0:0.8926:0.0:0.1074	.	370;328;418;270;418;360;360;418	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	Q	418;335;270;418;360;328;360;370;418	ENSP00000342389:E418Q;ENSP00000396742:E335Q;ENSP00000395475:E270Q;ENSP00000348646:E418Q;ENSP00000408387:E360Q;ENSP00000431444:E328Q;ENSP00000389132:E360Q;ENSP00000414324:E370Q;ENSP00000345243:E418Q	ENSP00000345243:E418Q	E	-	1	0	SIGLEC10	56610325	0.341000	0.24801	0.041000	0.18516	0.049000	0.14656	0.872000	0.28037	0.980000	0.38523	0.462000	0.41574	GAG		0.672	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		12	50	0	0	0	0.001368	0	12	50				
ZNF552	79818	broad.mit.edu	37	19	58319454	58319454	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:58319454G>T	ENST00000391701.1	-	3	1347	c.1178C>A	c.(1177-1179)tCt>tAt	p.S393Y	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACGAAGTGAAGAGATTTGCCT	0.413																																							uc002qqg.2		NA																	0					0						c.(1177-1179)TCT>TAT		zinc finger protein 552							147.0	143.0	144.0					19																	58319454		2203	4300	6503	SO:0001583	missense	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319454G>T	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1178C>A	19.37:g.58319454G>T	ENSP00000375582:p.Ser393Tyr					ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.S389Y	p.S393Y	NM_024762	NP_079038	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1348	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	393			C2H2-type 9.		B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	c.1178C>A	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747200	0.15710	.	.	ENSG00000178935	ENST00000391701	T	0.30448	1.53	1.96	-0.903	0.10534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30510	0.0767	M	0.82923	2.615	0.09310	N	1	P;P	0.50943	0.94;0.523	B;B	0.41646	0.36;0.362	T	0.25363	-1.0134	9	0.45353	T	0.12	.	2.833	0.05506	0.2066:0.3006:0.4928:0.0	.	389;393	B7Z1H1;Q9H707	.;ZN552_HUMAN	Y	393	ENSP00000375582:S393Y	ENSP00000375582:S393Y	S	-	2	0	ZNF552	63011266	0.038000	0.19896	0.001000	0.08648	0.447000	0.32167	0.923000	0.28757	0.143000	0.18926	0.205000	0.17691	TCT		0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		11	70	1	0	7.03913e-09	0.001368	1.53205e-08	11	70				
LGALSL	29094	broad.mit.edu	37	2	64685477	64685477	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:64685477T>C	ENST00000238875.5	+	5	888	c.434T>C	c.(433-435)tTt>tCt	p.F145S	LGALSL_ENST00000409537.2_Silent_p.L86L	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	145	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										CACCAACTTTTTGATTTTTAC	0.393																																							uc002scy.3		NA																	0					0						c.(433-435)TTT>TCT		galectin-related protein							208.0	202.0	204.0					2																	64685477		2203	4300	6503	SO:0001583	missense	29094					intracellular	sugar binding	g.chr2:64685477T>C	AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"""galectin-related protein"""					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.434T>C	2.37:g.64685477T>C	ENSP00000238875:p.Phe145Ser						p.F145S	NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN			5	787	+			145			Galectin.		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	ENST00000238875.5	37	c.434T>C	CCDS1877.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172346	0.78452	.	.	ENSG00000119862	ENST00000238875	T	0.05319	3.46	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.07139	-1.0788	10	0.56958	D	0.05	-22.4514	16.2806	0.82678	0.0:0.0:0.0:1.0	.	145	Q3ZCW2	LEGL_HUMAN	S	145	ENSP00000238875:F145S	ENSP00000238875:F145S	F	+	2	0	AC008074.1	64538981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.248000	0.74166	0.533000	0.62120	TTT		0.393	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181		62	96	0	0	0	0.00361	0	62	96				
SLC20A1	6574	broad.mit.edu	37	2	113420601	113420601	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:113420601G>A	ENST00000272542.3	+	11	2578	c.2039G>A	c.(2038-2040)tGa>tAa	p.*680*		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	0					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTCAGAATGTGAAGCTGTTTG	0.403																																							uc002tib.2		NA																	0				ovary(2)	2						c.(2038-2040)TGA>TAA		solute carrier family 20 (phosphate							147.0	145.0	146.0					2																	113420601		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113420601G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.2039G>A	2.37:g.113420601G>A							p.*680*	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			11	2485	+			680					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.2039G>A	CCDS2099.1																																																																																				0.403	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		13	78	0	0	0	0.003163	0	13	78				
ERMN	57471	broad.mit.edu	37	2	158177848	158177848	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:158177848G>A	ENST00000410096.1	-	3	1081	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	ERMN_ENST00000420719.2_Missense_Mutation_p.R244W|ERMN_ENST00000535935.1_Missense_Mutation_p.R158W|ERMN_ENST00000397283.2_Missense_Mutation_p.R277W	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	264					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CTGATTTTCCGATAGGATATT	0.393																																							uc002tzh.2		NA																	0				ovary(1)|skin(1)	2						c.(790-792)CGG>TGG		ermin, ERM-like protein isoform b							143.0	137.0	139.0					2																	158177848		1883	4117	6000	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158177848G>A	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.790C>T	2.37:g.158177848G>A	ENSP00000387047:p.Arg264Trp					ERMN_uc010zcj.1_Missense_Mutation_p.R158W|ERMN_uc010zck.1_Missense_Mutation_p.R244W|ERMN_uc002tzi.2_Missense_Mutation_p.R277W	p.R264W	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN			3	1052	-			264					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.790C>T	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154260	0.57259	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	6.07	4.25	0.50352	.	0.000000	0.64402	D	0.000011	D	0.92629	0.7658	L	0.36672	1.1	0.39528	D	0.968623	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93504	0.6847	10	0.87932	D	0	-54.3772	15.343	0.74311	0.0:0.0:0.7448:0.2552	.	244;277;264	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	W	264;277;158;244	ENSP00000387047:R264W;ENSP00000380453:R277W;ENSP00000438397:R158W;ENSP00000410646:R244W	ENSP00000380453:R277W	R	-	1	2	ERMN	157886094	1.000000	0.71417	0.989000	0.46669	0.840000	0.47671	2.144000	0.42197	0.868000	0.35678	0.655000	0.94253	CGG		0.393	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		14	102	0	0	0	0.00245	0	14	102				
ZAK	51776	broad.mit.edu	37	2	174081930	174081930	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:174081930A>C	ENST00000375213.3	+	11	1017	c.939A>C	c.(937-939)agA>agC	p.R313S	MLTK_ENST00000338983.3_Missense_Mutation_p.R313S|MLTK_ENST00000539448.1_Missense_Mutation_p.R313S|MLTK_ENST00000431503.2_Missense_Mutation_p.R212S|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R313S	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		313					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										AACGAGAAAGACGTTTAAAGA	0.522																																							uc002uhz.2		NA																	0				lung(3)|stomach(1)|ovary(1)|skin(1)	6						c.(937-939)AGA>AGC		MLK-related kinase isoform 1							81.0	75.0	77.0					2																	174081930		2203	4300	6503	SO:0001583	missense	51776				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr2:174081930A>C																												ENST00000375213.3:c.939A>C	2.37:g.174081930A>C	ENSP00000364361:p.Arg313Ser					ZAK_uc002uhy.2_Missense_Mutation_p.R313S|ZAK_uc010zei.1_Missense_Mutation_p.R212S|ZAK_uc002uia.1_Missense_Mutation_p.R313S|uc002uib.2_Intron	p.R313S	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.176)		11	1139	+			313					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.939A>C	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113086	0.56398	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	T;T;T;T;T	0.78481	-0.81;-0.79;-0.81;-1.18;-0.79	5.59	0.811	0.18739	.	0.157220	0.53938	D	0.000056	T	0.59018	0.2163	N	0.24115	0.695	0.54753	D	0.999986	P;P;P;P	0.38370	0.495;0.628;0.454;0.495	B;B;B;B	0.34489	0.09;0.184;0.078;0.09	T	0.53906	-0.8372	10	0.39692	T	0.17	.	9.3438	0.38096	0.5741:0.0:0.4259:0.0	.	313;313;313;313	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0	.;.;MLTK_HUMAN;.	S	313;313;313;212;313	ENSP00000439414:R313S;ENSP00000387259:R313S;ENSP00000340257:R313S;ENSP00000399787:R212S;ENSP00000364361:R313S	ENSP00000340257:R313S	R	+	3	2	AC013461.1	173790176	0.997000	0.39634	0.989000	0.46669	0.997000	0.91878	0.600000	0.24104	0.430000	0.26230	0.533000	0.62120	AGA		0.522	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			8	32	0	0	0	0.004482	0	8	32				
TTN	7273	broad.mit.edu	37	2	179604792	179604792	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:179604792C>G	ENST00000591111.1	-	46	12441	c.12217G>C	c.(12217-12219)Gag>Cag	p.E4073Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4219Q|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E4390Q|TTN_ENST00000359218.5_Missense_Mutation_p.E4152Q|TTN_ENST00000460472.2_Missense_Mutation_p.E4027Q|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4152Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCTCTGCTCTTCTGGAATA	0.468																																							uc010zfh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12655-12657)GAG>CAG		titin isoform novex-2							52.0	52.0	52.0					2																	179604792		1838	4091	5929	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604792C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12217G>C	2.37:g.179604792C>G	ENSP00000465570:p.Glu4073Gln					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4152Q|TTN_uc010zfj.1_Missense_Mutation_p.E4027Q|TTN_uc002umz.1_Intron	p.E4219Q	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12879	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12655G>C		.	.	.	.	.	.	.	.	.	.	C	4.296	0.054258	0.08291	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61040	0.2;0.14;0.14	5.7	3.86	0.44501	.	.	.	.	.	T	0.40670	0.1126	N	0.17082	0.46	0.19300	N	0.999978	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.34004	-0.9846	9	0.87932	D	0	.	8.4806	0.33040	0.0:0.629:0.2141:0.1569	.	4027;4152;4219	D3DPF9;E7EQE6;E7ET18	.;.;.	Q	4027;4219;4152;4027	ENSP00000434586:E4027Q;ENSP00000340554:E4219Q;ENSP00000352154:E4152Q	ENSP00000340554:E4219Q	E	-	1	0	TTN	179313037	0.740000	0.28207	0.837000	0.33122	0.133000	0.20885	0.317000	0.19487	1.413000	0.46997	0.655000	0.94253	GAG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	28	0	0	0	0.001216	0	20	28				
NRP2	8828	broad.mit.edu	37	2	206590657	206590657	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:206590657C>A	ENST00000357785.5	+	6	872	c.841C>A	c.(841-843)Ctg>Atg	p.L281M	NRP2_ENST00000357118.4_Missense_Mutation_p.L281M|NRP2_ENST00000360409.3_Missense_Mutation_p.L281M|NRP2_ENST00000540178.1_Missense_Mutation_p.L281M|NRP2_ENST00000355117.4_Missense_Mutation_p.L281M|NRP2_ENST00000412873.2_Missense_Mutation_p.L281M|NRP2_ENST00000540841.1_Missense_Mutation_p.L281M|NRP2_ENST00000417189.1_Missense_Mutation_p.L281M|NRP2_ENST00000272849.3_Missense_Mutation_p.L281M			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAATGTTCCTCTGGGCATGGA	0.537																																							uc002vaw.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(841-843)CTG>ATG		neuropilin 2 isoform 1 precursor							130.0	110.0	117.0					2																	206590657		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590657C>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.841C>A	2.37:g.206590657C>A	ENSP00000350432:p.Leu281Met					NRP2_uc002vat.2_Missense_Mutation_p.L281M|NRP2_uc002vau.2_Missense_Mutation_p.L281M|NRP2_uc002vav.2_Missense_Mutation_p.L281M|NRP2_uc002vax.2_Missense_Mutation_p.L281M|NRP2_uc002vay.2_Missense_Mutation_p.L281M|NRP2_uc010fud.2_Missense_Mutation_p.L281M	p.L281M	NM_201266	NP_957718	O60462	NRP2_HUMAN			6	1632	+			281			Extracellular (Potential).|F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.841C>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777496	0.49786	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	6.07	2.93	0.34026	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.139892	0.53938	D	0.000047	D	0.97952	0.9326	M	0.69463	2.115	0.41125	D	0.985844	D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.999;0.999;0.992	D;D;D;D;D;D	0.83275	0.98;0.985;0.996;0.989;0.989;0.936	D	0.97453	1.0029	10	0.54805	T	0.06	-14.1289	9.4917	0.38965	0.0:0.6723:0.0:0.3277	.	281;281;281;281;281;281	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	M	281	ENSP00000353582:L281M;ENSP00000439658:L281M;ENSP00000439261:L281M;ENSP00000347238:L281M;ENSP00000387519:L281M;ENSP00000349632:L281M;ENSP00000350432:L281M;ENSP00000407626:L281M;ENSP00000272849:L281M	ENSP00000272849:L281M	L	+	1	2	NRP2	206298902	0.001000	0.12720	0.991000	0.47740	0.562000	0.35680	-0.037000	0.12164	0.882000	0.36016	0.655000	0.94253	CTG		0.537	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			13	41	1	0	0.000219431	0.00245	0.000435917	13	41				
SLC4A3	6508	broad.mit.edu	37	2	220494078	220494078	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:220494078G>A	ENST00000358055.3	+	4	942	c.430G>A	c.(430-432)Gag>Aag	p.E144K	AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E144K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E144K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E144K|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E144K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	144	Poly-Glu.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		agaggaggaagaggaAGGAGA	0.617																																							uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(430-432)GAG>AAG		solute carrier family 4, anion exchanger, member							27.0	33.0	31.0					2																	220494078		2202	4299	6501	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494078G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.430G>A	2.37:g.220494078G>A	ENSP00000350756:p.Glu144Lys					SLC4A3_uc002vmn.2_Missense_Mutation_p.E144K|SLC4A3_uc002vmo.3_Missense_Mutation_p.E144K|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	p.E144K	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	699	+		Renal(207;0.0183)	144			Poly-Glu.|Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.430G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323581	0.81580	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.01	5.01	0.66863	.	0.707453	0.13933	N	0.352728	T	0.29458	0.0734	L	0.43923	1.385	0.43919	D	0.996566	B;P	0.46512	0.421;0.879	B;B	0.41764	0.202;0.366	T	0.04165	-1.0972	10	0.17369	T	0.5	.	16.2844	0.82712	0.0:0.0:1.0:0.0	.	144;144	P48751;P48751-3	B3A3_HUMAN;.	K	144	ENSP00000350756:E144K;ENSP00000362865:E144K;ENSP00000273063:E144K;ENSP00000362867:E144K;ENSP00000314006:E144K	ENSP00000273063:E144K	E	+	1	0	SLC4A3	220202322	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.501000	0.60393	2.598000	0.87819	0.462000	0.41574	GAG		0.617	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		3	9	0	0	0	0.000602	0	3	9				
RALGAPB	57148	broad.mit.edu	37	20	37202806	37202806	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr20:37202806G>C	ENST00000262879.6	+	29	4440	c.4156G>C	c.(4156-4158)Gaa>Caa	p.E1386Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1386Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E1165Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1383Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1386	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACAACTCTTGAAAAAGAAGT	0.398																																							uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(4156-4158)GAA>CAA		Ral GTPase activating protein, beta subunit							61.0	70.0	67.0					20																	37202806		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37202806G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4156G>C	20.37:g.37202806G>C	ENSP00000262879:p.Glu1386Gln					RALGAPB_uc002xix.2_Missense_Mutation_p.E1383Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E1165Q	p.E1386Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			29	4413	+			1386			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.4156G>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908084	0.92107	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	6.01	6.01	0.97437	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	L	0.44542	1.39	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.59115	0.852;0.852	D	0.91861	0.5499	10	0.23302	T	0.38	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	1383;1386	A2A2E9;Q86X10	.;RLGPB_HUMAN	Q	1386;1383;1165;1386;1215	ENSP00000262879:E1386Q;ENSP00000380235:E1383Q;ENSP00000380231:E1165Q;ENSP00000380233:E1386Q;ENSP00000416646:E1215Q	ENSP00000262879:E1386Q	E	+	1	0	RALGAPB	36636220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAA		0.398	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	78	0	0	0	0.004482	0	9	78				
KCNQ2	3785	broad.mit.edu	37	20	62038708	62038708	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr20:62038708C>G	ENST00000359125.2	-	17	2082	c.1908G>C	c.(1906-1908)aaG>aaC	p.K636N	KCNQ2_ENST00000360480.3_Missense_Mutation_p.K608N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.K644N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K644N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.K605N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.K618N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K636N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	636					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGAAGTCCAGCTTCTTCTCCA	0.642																																							uc002yey.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1906-1908)AAG>AAC		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						28.0	30.0	29.0					20																	62038708		2199	4298	6497	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038708C>G	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1908G>C	20.37:g.62038708C>G	ENSP00000352035:p.Lys636Asn					KCNQ2_uc002yez.1_Missense_Mutation_p.K605N|KCNQ2_uc002yfa.1_Missense_Mutation_p.K618N|KCNQ2_uc002yfb.1_Missense_Mutation_p.K608N	p.K636N	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2085	-	all_cancers(38;1.24e-11)		636			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1908G>C	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829632	0.71258	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99769	-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7	5.06	4.11	0.48088	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	M	0.85945	2.785	0.47123	D	0.99932	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97462	1.0035	10	0.87932	D	0	-16.6984	13.3231	0.60444	0.0:0.9223:0.0:0.0777	.	608;618;605;636	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	N	618;636;606;644;636;605;608;632;644	ENSP00000349789:K618N;ENSP00000352035:K636N;ENSP00000359246:K606N;ENSP00000346601:K644N;ENSP00000352718:K636N;ENSP00000399612:K605N;ENSP00000353668:K608N;ENSP00000339611:K632N;ENSP00000359244:K644N	ENSP00000339611:K632N	K	-	3	2	KCNQ2	61509152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.817000	0.39002	1.121000	0.41925	0.491000	0.48974	AAG		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		6	29	0	0	0	0.001168	0	6	29				
GRIK1	2897	broad.mit.edu	37	21	30933950	30933950	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:30933950G>A	ENST00000399907.1	-	15	2762	c.2351C>T	c.(2350-2352)cCt>cTt	p.P784L	GRIK1_ENST00000399909.1_Missense_Mutation_p.P769L|GRIK1_ENST00000389125.3_Missense_Mutation_p.P769L|GRIK1_ENST00000389124.2_Missense_Mutation_p.P784L|GRIK1_ENST00000309434.7_Missense_Mutation_p.P786L|GRIK1_ENST00000327783.4_Missense_Mutation_p.P784L|GRIK1_ENST00000399914.1_Missense_Mutation_p.P769L|GRIK1_ENST00000535441.1_Missense_Mutation_p.P786L|GRIK1_ENST00000399913.1_Missense_Mutation_p.P784L	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	784					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CTTACCAATAGGTGTTCCCAC	0.468																																							uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2350-2352)CCT>CTT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						120.0	99.0	106.0					21																	30933950		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30933950G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2351C>T	21.37:g.30933950G>A	ENSP00000382791:p.Pro784Leu					GRIK1_uc002ynn.2_Missense_Mutation_p.P769L|GRIK1_uc011acs.1_Missense_Mutation_p.P784L|GRIK1_uc011act.1_Missense_Mutation_p.P645L	p.P784L	NM_000830	NP_000821	P39086	GRIK1_HUMAN			15	2815	-			784			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2351C>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688442	0.88639	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	4.83	4.83	0.62350	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	H	0.97131	3.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.71133	-0.4681	10	0.87932	D	0	.	18.0824	0.89445	0.0:0.0:1.0:0.0	.	769;784;784;769	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	L	784;769;784;769;786;645;784;784;769;786	ENSP00000327687:P784L;ENSP00000373777:P769L;ENSP00000382797:P784L;ENSP00000382798:P769L;ENSP00000446326:P786L;ENSP00000373776:P784L;ENSP00000382791:P784L;ENSP00000382793:P769L;ENSP00000311646:P786L	ENSP00000311646:P786L	P	-	2	0	GRIK1	29855821	1.000000	0.71417	0.837000	0.33122	0.903000	0.53119	9.554000	0.98121	2.665000	0.90641	0.563000	0.77884	CCT		0.468	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			6	11	0	0	0	0.001168	0	6	11				
TTC3	7267	broad.mit.edu	37	21	38537922	38537922	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:38537922G>C	ENST00000399017.2	+	33	6153	c.3406G>C	c.(3406-3408)Gag>Cag	p.E1136Q	TTC3_ENST00000354749.2_Missense_Mutation_p.E1136Q|TTC3_ENST00000355666.1_Missense_Mutation_p.E1136Q|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1136					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGCAGAATATGAGTTTTTCCC	0.373																																					Ovarian(38;194 1649 35661)	Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(3406-3408)GAG>CAG		tetratricopeptide repeat domain 3							134.0	147.0	142.0					21																	38537922		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38537922G>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3406G>C	21.37:g.38537922G>C	ENSP00000381981:p.Glu1136Gln					TTC3_uc011aee.1_Missense_Mutation_p.E826Q|TTC3_uc002ywa.2_Missense_Mutation_p.E1136Q|TTC3_uc002ywb.2_Missense_Mutation_p.E1136Q|TTC3_uc010gnf.2_Missense_Mutation_p.E901Q|TTC3_uc002ywc.2_Missense_Mutation_p.E826Q|TTC3_uc002ywd.1_Missense_Mutation_p.E200Q	p.E1136Q	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			33	3511	+		Myeloproliferative disorder(46;0.0412)	1136					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3406G>C	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.467258|2.467258	0.43839|0.43839	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.14266|.	2.53;2.52;2.82;2.82;2.82|.	4.75|4.75	3.84|3.84	0.44239|0.44239	.|.	0.187560|.	0.36665|.	N|.	0.002470|.	T|T	0.61236|0.61236	0.2331|0.2331	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	D;P|.	0.61697|.	0.99;0.953|.	P;P|.	0.59825|.	0.864;0.551|.	T|T	0.58618|0.58618	-0.7605|-0.7605	10|5	0.56958|.	D|.	0.05|.	-7.6711|-7.6711	13.2654|13.2654	0.60131|0.60131	0.0:0.1808:0.8192:0.0|0.0:0.1808:0.8192:0.0	.|.	194;1136|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	Q|I	1136;1118;1136;1136;1136|291	ENSP00000403943:E1136Q;ENSP00000391891:E1118Q;ENSP00000347889:E1136Q;ENSP00000381981:E1136Q;ENSP00000346791:E1136Q|.	ENSP00000346791:E1136Q|.	E|M	+|+	1|3	0|0	TTC3|TTC3	37459792|37459792	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	3.555000|3.555000	0.53727|0.53727	1.091000|1.091000	0.41335|0.41335	0.591000|0.591000	0.81541|0.81541	GAG|ATG		0.373	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			33	113	0	0	0	0.003755	0	33	113				
PCNT	5116	broad.mit.edu	37	21	47855999	47855999	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:47855999G>C	ENST00000359568.5	+	39	9041	c.8934G>C	c.(8932-8934)atG>atC	p.M2978I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2978					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGAGGCGATGAGGCAGCGGC	0.697																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(8932-8934)ATG>ATC		pericentrin							30.0	32.0	31.0					21																	47855999		2203	4298	6501	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47855999G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8934G>C	21.37:g.47855999G>C	ENSP00000352572:p.Met2978Ile					PCNT_uc002zjj.2_Missense_Mutation_p.M2781I	p.M2978I	NM_006031	NP_006022	O95613	PCNT_HUMAN			39	9041	+	Breast(49;0.112)		2978			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8934G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	0.269	-0.994314	0.02145	.	.	ENSG00000160299	ENST00000359568	T	0.01209	5.17	5.58	-11.2	0.00127	.	.	.	.	.	T	0.00440	0.0014	N	0.04880	-0.145	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.0	T	0.47947	-0.9077	9	0.02654	T	1	.	3.0259	0.06091	0.229:0.4458:0.1334:0.1917	.	2781;2978	O95613-2;O95613	.;PCNT_HUMAN	I	2978	ENSP00000352572:M2978I	ENSP00000352572:M2978I	M	+	3	0	PCNT	46680427	0.000000	0.05858	0.001000	0.08648	0.368000	0.29767	-0.845000	0.04340	-2.205000	0.00742	0.467000	0.42956	ATG		0.697	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		10	21	0	0	0	0.006214	0	10	21				
TMEM184B	25829	broad.mit.edu	37	22	38641953	38641953	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr22:38641953C>T	ENST00000361906.3	-	3	554	c.346G>A	c.(346-348)Gac>Aac	p.D116N	TMEM184B_ENST00000361684.4_Missense_Mutation_p.D116N	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	116						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TCATAGCAGTCGCGGACGGTG	0.642																																							uc003avf.1		NA																	0					0						c.(346-348)GAC>AAC		transmembrane protein 184B							61.0	50.0	54.0					22																	38641953		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38641953C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.346G>A	22.37:g.38641953C>T	ENSP00000355210:p.Asp116Asn					TMEM184B_uc003avg.1_Missense_Mutation_p.D116N|TMEM184B_uc003avh.1_Missense_Mutation_p.D50N|TMEM184B_uc010gxl.1_RNA	p.D116N	NM_012264	NP_036396	Q9Y519	T184B_HUMAN			3	570	-	Melanoma(58;0.045)		116					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.346G>A	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819551	0.90873	.	.	ENSG00000198792	ENST00000361906;ENST00000361684;ENST00000403210	T;T;T	0.54866	0.55;0.55;0.55	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.69463	2.115	0.80722	D	1	D	0.64830	0.994	P	0.60068	0.868	T	0.71958	-0.4435	10	0.54805	T	0.06	.	17.2945	0.87167	0.0:1.0:0.0:0.0	.	116	Q9Y519	T184B_HUMAN	N	116;116;50	ENSP00000355210:D116N;ENSP00000354441:D116N;ENSP00000385608:D50N	ENSP00000354441:D116N	D	-	1	0	TMEM184B	36971899	1.000000	0.71417	0.918000	0.36340	0.563000	0.35712	7.714000	0.84703	2.060000	0.61445	0.549000	0.68633	GAC		0.642	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		5	9	0	0	0	0.001168	0	5	9				
FEZF2	55079	broad.mit.edu	37	3	62358290	62358290	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr3:62358290G>C	ENST00000283268.3	-	2	548	c.254C>G	c.(253-255)tCa>tGa	p.S85*	FEZF2_ENST00000486811.1_Nonsense_Mutation_p.S85*|FEZF2_ENST00000475839.1_Nonsense_Mutation_p.S85*	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	85					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CAGTGTCTTTGACGGCACCTC	0.716																																					NSCLC(170;1772 2053 12525 15604 23984)	NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2		NA																	0				lung(1)	1						c.(253-255)TCA>TGA		FEZ family zinc finger 2							31.0	35.0	33.0					3																	62358290		2203	4300	6503	SO:0001587	stop_gained	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62358290G>C	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.254C>G	3.37:g.62358290G>C	ENSP00000283268:p.Ser85*					FEZF2_uc003dli.2_Nonsense_Mutation_p.S85*	p.S85*	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	1	461	-		Lung SC(41;0.0262)	85					A8K349|Q9BZ91|Q9NWB9	Nonsense_Mutation	SNP	ENST00000283268.3	37	c.254C>G	CCDS2897.1	.	.	.	.	.	.	.	.	.	.	G	38	6.947132	0.97956	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	.	.	.	5.1	5.1	0.69264	.	0.051456	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.1336	13.9327	0.64006	0.0:0.0:0.8473:0.1527	.	.	.	.	X	85	.	ENSP00000283268:S85X	S	-	2	0	FEZF2	62333330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.594000	0.74104	2.399000	0.81585	0.555000	0.69702	TCA		0.716	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		5	15	0	0	0	0.001984	0	5	15				
C3orf56	285311	broad.mit.edu	37	3	126915686	126915686	+	Missense_Mutation	SNP	C	C	A	rs538234414	byFrequency	TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr3:126915686C>A	ENST00000398112.1	+	2	398	c.158C>A	c.(157-159)aCt>aAt	p.T53N		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	53										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CAGCCTGTAACTGACCTGGCC	0.612																																							uc003eji.1		NA																	0					NA						c.(157-159)ACT>AAT		RecName: Full=Putative uncharacterized protein C3orf56;							36.0	43.0	41.0					3																	126915686		1969	4146	6115	SO:0001583	missense	0							g.chr3:126915686C>A	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.158C>A	3.37:g.126915686C>A	ENSP00000381182:p.Thr53Asn						p.T53N							2	398	+								B2RNW5	Missense_Mutation	SNP	ENST00000398112.1	37	c.158C>A		.	.	.	.	.	.	.	.	.	.	C	3.277	-0.147783	0.06627	.	.	ENSG00000214324	ENST00000398112	.	.	.	2.38	0.535	0.17133	.	.	.	.	.	T	0.48978	0.1530	.	.	.	0.09310	N	1	D	0.62365	0.991	P	0.59288	0.855	T	0.33007	-0.9885	7	0.56958	D	0.05	.	4.6631	0.12652	0.0:0.6734:0.0:0.3266	.	53	Q8N813	CC056_HUMAN	N	53	.	ENSP00000381182:T53N	T	+	2	0	C3orf56	128398376	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.167000	0.09940	0.112000	0.17975	0.460000	0.39030	ACT		0.612	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			11	5	1	0	1.58986e-06	0.000673	3.24552e-06	11	5				
SHROOM3	57619	broad.mit.edu	37	4	77476912	77476912	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:77476912C>T	ENST00000296043.6	+	2	1272	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	107	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGGTAGTGCGCAGGTAGGT	0.587																																							uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(319-321)CGC>TGC		shroom family member 3 protein							99.0	85.0	90.0					4																	77476912		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77476912C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.319C>T	4.37:g.77476912C>T	ENSP00000296043:p.Arg107Cys						p.R107C	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		2	1272	+			107			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.319C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270259	0.59540	.	.	ENSG00000138771	ENST00000296043	T	0.25085	1.82	4.44	3.57	0.40892	PDZ/DHR/GLGF (3);	0.662303	0.12377	N	0.474244	T	0.60235	0.2253	M	0.92555	3.32	0.40078	D	0.976099	D	0.89917	1.0	D	0.85130	0.997	T	0.66548	-0.5896	10	0.87932	D	0	-5.2315	12.5483	0.56212	0.1672:0.8328:0.0:0.0	.	107	Q8TF72	SHRM3_HUMAN	C	107	ENSP00000296043:R107C	ENSP00000296043:R107C	R	+	1	0	SHROOM3	77695936	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.839000	0.55835	1.120000	0.41904	0.467000	0.42956	CGC		0.587	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		6	14	0	0	0	0.001168	0	6	14				
SLC9B1	150159	broad.mit.edu	37	4	103910990	103910990	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:103910990G>A	ENST00000296422.7	-	3	319	c.178C>T	c.(178-180)Cta>Tta	p.L60L	SLC9B1_ENST00000394789.3_Silent_p.L60L	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	60					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.L60V(1)									ACTCCTCTTAGAGGACAAGAA	0.284																																							uc003hww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(178-180)CTA>TTA		Na+/H+ exchanger domain containing 1 isoform 1							152.0	137.0	142.0					4																	103910990		2200	4293	6493	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103910990G>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.178C>T	4.37:g.103910990G>A						NHEDC1_uc003hwu.2_Silent_p.L60L|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Intron	p.L60L	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	3	300	-		Hepatocellular(203;0.217)	60					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.178C>T	CCDS34041.1																																																																																				0.284	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		7	13	0	0	0	0.004482	0	7	13				
SCLT1	132320	broad.mit.edu	37	4	129857944	129857944	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:129857944C>G	ENST00000281142.5	-	18	2198	c.1695G>C	c.(1693-1695)gaG>gaC	p.E565D	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	565					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGTCTTCCATCTCTCTCAATT	0.343																																							uc003igp.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1693-1695)GAG>GAC		sodium channel associated protein 1							110.0	99.0	103.0					4																	129857944		2202	4300	6502	SO:0001583	missense	132320					centrosome		g.chr4:129857944C>G	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1695G>C	4.37:g.129857944C>G	ENSP00000281142:p.Glu565Asp					SCLT1_uc003ign.2_Missense_Mutation_p.E229D|SCLT1_uc003igo.2_Missense_Mutation_p.E175D|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.E565D	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			18	2201	-			565			Potential.		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1695G>C	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868340	0.51588	.	.	ENSG00000151466	ENST00000281142	T	0.50277	0.75	4.85	0.0192	0.14120	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.32052	-0.9921	9	.	.	.	-9.8957	10.1437	0.42751	0.0:0.5745:0.0:0.4255	.	565	Q96NL6	SCLT1_HUMAN	D	565	ENSP00000281142:E565D	.	E	-	3	2	SCLT1	130077394	0.965000	0.33210	0.981000	0.43875	0.727000	0.41649	0.352000	0.20113	-0.280000	0.09154	0.591000	0.81541	GAG		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		3	24	0	0	0	0.004672	0	3	24				
PCDH18	54510	broad.mit.edu	37	4	138452016	138452016	+	Missense_Mutation	SNP	C	C	G	rs549269263		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:138452016C>G	ENST00000344876.4	-	1	1613	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N	PCDH18_ENST00000507846.1_Missense_Mutation_p.K189N|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.K409N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTCATATGTCTTCTGAAGTT	0.383																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1225-1227)AAG>AAC		protocadherin 18 precursor							108.0	116.0	113.0					4																	138452016		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452016C>G	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1227G>C	4.37:g.138452016C>G	ENSP00000355082:p.Lys409Asn					PCDH18_uc003ihf.3_Missense_Mutation_p.K402N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.K189N|PCDH18_uc011cha.1_Intron	p.K409N	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	1614	-	all_hematologic(180;0.24)		409			Cadherin 4.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1227G>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096481	0.56075	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.52983	0.64;0.64;0.64	6.03	4.26	0.50523	Cadherin (4);Cadherin-like (1);	0.148742	0.30428	N	0.009653	T	0.60689	0.2288	L	0.48260	1.515	0.80722	D	1	D;D;D	0.89917	0.998;0.988;1.0	D;D;D	0.78314	0.988;0.915;0.991	T	0.61402	-0.7070	10	0.62326	D	0.03	.	13.0246	0.58808	0.1355:0.7452:0.1193:0.0	.	189;409;409	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	N	409;409;189	ENSP00000355082:K409N;ENSP00000390688:K409N;ENSP00000425903:K189N	ENSP00000355082:K409N	K	-	3	2	PCDH18	138671466	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	4.889000	0.63171	0.824000	0.34613	0.557000	0.71058	AAG		0.383	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		21	33	0	0	0	0.001882	0	21	33				
LPCAT1	79888	broad.mit.edu	37	5	1479756	1479756	+	Missense_Mutation	SNP	G	G	A	rs375249372	byFrequency	TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:1479756G>A	ENST00000283415.3	-	8	928	c.796C>T	c.(796-798)Cac>Tac	p.H266Y		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	266					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACTTGGTTGTGAAACTGACAC	0.448											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	5	0.000998403	0.0	0.0	5008	,	,		22018	0.0		0.0	False		,,,				2504	0.0051						uc003jcm.2		NA																	0				ovary(2)	2						c.(796-798)CAC>TAC		lysophosphatidylcholine acyltransferase 1		G	TYR/HIS	0,4406		0,0,2203	173.0	128.0	143.0		796	3.7	1.0	5		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPCAT1	NM_024830.3	83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/535	1479756	1,13005	2203	4300	6503	SO:0001583	missense	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1479756G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.796C>T	5.37:g.1479756G>A	ENSP00000283415:p.His266Tyr		OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596		p.H266Y	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	8	913	-			266			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.796C>T	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728494	0.15507	0.0	1.16E-4	ENSG00000153395	ENST00000283415	D	0.93712	-3.27	3.71	3.71	0.42584	.	0.100525	0.64402	D	0.000002	D	0.88145	0.6358	L	0.42008	1.315	0.43018	D	0.994563	B	0.02656	0.0	B	0.04013	0.001	T	0.81929	-0.0708	10	0.02654	T	1	-14.3928	15.1237	0.72465	0.0:0.0:1.0:0.0	.	266	Q8NF37	PCAT1_HUMAN	Y	266	ENSP00000283415:H266Y	ENSP00000283415:H266Y	H	-	1	0	LPCAT1	1532756	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.773000	0.68898	2.025000	0.59659	0.561000	0.74099	CAC		0.448	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		7	20	0	0	0	0.001984	0	7	20				
DNAH5	1767	broad.mit.edu	37	5	13692194	13692194	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:13692194G>C	ENST00000265104.4	-	79	13878	c.13774C>G	c.(13774-13776)Cga>Gga	p.R4592G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4592					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R4592*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTCCGTTCGAACTGGCTTC	0.468									Kartagener syndrome																														uc003jfd.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13774-13776)CGA>GGA		dynein, axonemal, heavy chain 5							108.0	99.0	102.0					5																	13692194		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13692194G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13774C>G	5.37:g.13692194G>C	ENSP00000265104:p.Arg4592Gly					DNAH5_uc003jfc.2_Missense_Mutation_p.R760G	p.R4592G	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			79	13816	-	Lung NSC(4;0.00476)		4592					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13774C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169890	0.78452	.	.	ENSG00000039139	ENST00000265104	T	0.33216	1.42	5.76	5.76	0.90799	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84437	0.0580	10	0.87932	D	0	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	4592	Q8TE73	DYH5_HUMAN	G	4592	ENSP00000265104:R4592G	ENSP00000265104:R4592G	R	-	1	2	DNAH5	13745194	0.948000	0.32251	0.997000	0.53966	0.683000	0.39861	1.417000	0.34770	2.722000	0.93159	0.650000	0.86243	CGA		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11	45	0	0	0	0.001368	0	11	45				
DNAH5	1767	broad.mit.edu	37	5	13830323	13830323	+	Splice_Site	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:13830323C>T	ENST00000265104.4	-	37	6166		c.e37-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCCAGTCCTTCGAAAGGA	0.363									Kartagener syndrome																														uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e37-1		dynein, axonemal, heavy chain 5							57.0	57.0	57.0					5																	13830323		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13830323C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6062-1G>A	5.37:g.13830323C>T							p.G2021_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			37	6104	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.6062_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614496	0.87359	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13883323	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	.		0.363	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	13	11	0	0	0	0.001855	0	13	11				
CMYA5	202333	broad.mit.edu	37	5	79032782	79032782	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:79032782G>T	ENST00000446378.2	+	2	8225	c.8194G>T	c.(8194-8196)Gat>Tat	p.D2732Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2732					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTTGTCATGATGAAATAGA	0.393																																							uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(8194-8196)GAT>TAT		cardiomyopathy associated 5							50.0	49.0	49.0					5																	79032782		1831	4072	5903	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032782G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8194G>T	5.37:g.79032782G>T	ENSP00000394770:p.Asp2732Tyr						p.D2732Y	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8266	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2732					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.8194G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	9.344	1.063668	0.20067	.	.	ENSG00000164309	ENST00000446378	T	0.19806	2.12	4.09	2.25	0.28309	.	0.885835	0.09779	N	0.756943	T	0.18341	0.0440	L	0.42245	1.32	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.27606	-1.0069	10	0.87932	D	0	.	6.5739	0.22553	0.0975:0.0:0.7258:0.1767	.	2732	Q8N3K9	CMYA5_HUMAN	Y	2732	ENSP00000394770:D2732Y	ENSP00000394770:D2732Y	D	+	1	0	CMYA5	79068538	0.000000	0.05858	0.001000	0.08648	0.201000	0.24016	-0.053000	0.11846	0.327000	0.23409	-0.351000	0.07748	GAT		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		10	19	1	0	2.17888e-05	0.006214	4.35775e-05	10	19				
APC	324	broad.mit.edu	37	5	112154981	112154981	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:112154981G>C	ENST00000457016.1	+	10	1632	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	APC_ENST00000508376.2_Missense_Mutation_p.E418Q|APC_ENST00000257430.4_Missense_Mutation_p.E418Q			P25054	APC_HUMAN	adenomatous polyposis coli	418	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGCTTACTGTGAAACCTGTTG	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		0				large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(1252-1254)GAA>CAA		adenomatous polyposis coli							58.0	57.0	57.0					5																	112154981		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112154981G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1252G>C	5.37:g.112154981G>C	ENSP00000413133:p.Glu418Gln	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.E400Q|APC_uc003kpz.3_Missense_Mutation_p.E418Q|APC_uc003kpy.3_Missense_Mutation_p.E418Q|APC_uc010jbz.2_Missense_Mutation_p.E135Q|APC_uc010jca.2_5'Flank	p.E418Q	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	10	1632	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	418			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1252G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152626	0.94645	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94184	-2.67;-3.37;-2.67;-2.67;-2.85	5.94	5.94	0.96194	Armadillo-type fold (1);	0.096875	0.64402	D	0.000001	D	0.94735	0.8301	L	0.46741	1.465	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.56398	0.797;0.797	D	0.94633	0.7823	10	0.72032	D	0.01	-10.0533	20.419	0.99029	0.0:0.0:1.0:0.0	.	420;418	Q4LE70;P25054	.;APC_HUMAN	Q	418;400;418;418;418	ENSP00000413133:E418Q;ENSP00000423224:E400Q;ENSP00000257430:E418Q;ENSP00000427089:E418Q;ENSP00000423828:E418Q	ENSP00000257430:E418Q	E	+	1	0	APC	112182880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.832000	0.97577	0.650000	0.86243	GAA		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		6	26	0	0	0	0.00308	0	6	26				
RAD50	10111	broad.mit.edu	37	5	131978009	131978009	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:131978009G>C	ENST00000265335.6	+	25	4279	c.3892G>C	c.(3892-3894)Gag>Cag	p.E1298Q	AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.E1159Q|AC004041.2_ENST00000435042.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1298					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGTGCTCAGAGATTGTGAA	0.358								Homologous recombination																															uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(3892-3894)GAG>CAG	Homologous_recombination	RAD50 homolog isoform 1							97.0	96.0	96.0					5																	131978009		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131978009G>C	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3892G>C	5.37:g.131978009G>C	ENSP00000265335:p.Glu1298Gln					RAD50_uc003kxh.2_Missense_Mutation_p.E1159Q	p.E1298Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		25	4279	+		all_cancers(142;0.0368)|Breast(839;0.198)	1298					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.3892G>C	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913295	0.92178	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.04654	3.58;3.79	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.09512	0.0234	L	0.37630	1.12	0.58432	D	0.999999	P	0.50710	0.938	P	0.52554	0.702	T	0.38845	-0.9642	10	0.22109	T	0.4	-12.6556	16.9387	0.86210	0.0:0.1279:0.8721:0.0	.	1298	Q92878	RAD50_HUMAN	Q	1159;1298	ENSP00000368100:E1159Q;ENSP00000265335:E1298Q	ENSP00000265335:E1298Q	E	+	1	0	RAD50	132005908	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.462000	0.80851	1.454000	0.47793	0.655000	0.94253	GAG		0.358	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		6	22	0	0	0	0.001984	0	6	22				
ANKHD1	54882	broad.mit.edu	37	5	139876307	139876307	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:139876307G>C	ENST00000360839.2	+	15	2602	c.2448G>C	c.(2446-2448)aaG>aaC	p.K816N	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.K816N|ANKHD1_ENST00000297183.6_Missense_Mutation_p.K816N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	816						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAGATAAGATAGAAGAAC	0.373																																							uc003lfs.1		NA																	0				ovary(6)	6						c.(2446-2448)AAG>AAC		ANKHD1-EIF4EBP3 protein							69.0	72.0	71.0					5																	139876307		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139876307G>C	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2448G>C	5.37:g.139876307G>C	ENSP00000354085:p.Lys816Asn					ANKHD1_uc003lfq.1_Missense_Mutation_p.K835N|ANKHD1_uc003lfr.2_Missense_Mutation_p.K816N|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.K296N|ANKHD1_uc003lfv.1_Intron	p.K816N	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2572	+			816					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2448G>C	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071729	0.36566	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.71698	-0.56;-0.59;-0.39;-0.59	5.76	4.89	0.63831	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	L	0.59436	1.845	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66351	0.943;0.941;0.941	T	0.74109	-0.3771	10	0.22706	T	0.39	.	10.6766	0.45789	0.145:0.0:0.855:0.0	.	816;816;816	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	N	816;849;816;816;350;835;816	ENSP00000354085:K816N;ENSP00000297183:K816N;ENSP00000394489:K835N;ENSP00000432016:K816N	ENSP00000432016:K816N	K	+	3	2	ANKHD1-EIF4EBP3;ANKHD1	139856491	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.442000	0.44873	1.435000	0.47434	0.585000	0.79938	AAG		0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		16	30	0	0	0	0.006122	0	16	30				
PCDHA5	56143	broad.mit.edu	37	5	140203499	140203499	+	Silent	SNP	G	G	A	rs151078612		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:140203499G>A	ENST00000529859.1	+	1	2139	c.2139G>A	c.(2137-2139)acG>acA	p.T713T	PCDHA5_ENST00000378126.3_Silent_p.T713T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T713T|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	713					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTCACGCTGCTGCTGT	0.692																																							uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2137-2139)ACG>ACA		protocadherin alpha 5 isoform 1 precursor							60.0	57.0	58.0					5																	140203499		2203	4299	6502	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203499G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2139G>A	5.37:g.140203499G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.T713T|PCDHA5_uc003lhj.1_Silent_p.T713T	p.T713T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2139	+			713			Helical; (Potential).		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2139G>A	CCDS54917.1																																																																																				0.692	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		14	34	0	0	0	0.001855	0	14	34				
PCDHA9	9752	broad.mit.edu	37	5	140228143	140228143	+	Silent	SNP	C	C	T	rs146722772		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:140228143C>T	ENST00000532602.1	+	1	1096	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.L21L|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	21					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGATCCTCGCAATGTGGG	0.562																																					Melanoma(55;1800 1972 14909)	Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(61-63)CTC>CTT		protocadherin alpha 9 isoform 1 precursor		C	,,,,,,,,,,,	1,4393		0,1,2196	72.0	73.0	73.0		63,,,,,,,,,,,63	-2.9	0.0	5	dbSNP_134	73	0,8540		0,0,4270	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_014005.3,NM_018900.2,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	,,,,,,,,,,,	0,1,6466	TT,TC,CC		0.0,0.0228,0.0077	,,,,,,,,,,,	21/843,,,,,,,,,,,21/951	140228143	1,12933	2197	4270	6467	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140228143C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.63C>T	5.37:g.140228143C>T						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_uc003lht.1_Silent_p.L21L	p.L21L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	787	+			21					O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.63C>T	CCDS54920.1																																																																																				0.562	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		30	48	0	0	0	0.001786	0	30	48				
PCDHGA7	56108	broad.mit.edu	37	5	140764587	140764587	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:140764587C>T	ENST00000518325.1	+	1	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	707					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTAGCCTTCGTCCTCGTAC	0.627																																							uc003lka.1		NA																	0					0						c.(2119-2121)TTC>TTT		protocadherin gamma subfamily A, 7 isoform 1							61.0	66.0	65.0					5																	140764587		2203	4300	6503	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764587C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2121C>T	5.37:g.140764587C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.F707F|PCDHGB4_uc011dav.1_5'Flank	p.F707F	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2121	+			707			Helical; (Potential).		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.2121C>T	CCDS54927.1																																																																																				0.627	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		8	25	0	0	0	0.004482	0	8	25				
PCDHGB3	56102	broad.mit.edu	37	5	140779407	140779407	+	Intron	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:140779407C>A	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCTCTTCGATATGGTGC	0.667																																							uc003lkf.1		NA																	0					0						c.(1711-1713)TTC>TTA		protocadherin gamma subfamily B, 5 isoform 1							27.0	35.0	33.0					5																	140779407		2148	4253	6401	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779407C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27031C>A	5.37:g.140779407C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.F571L	p.F571L	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1713	+			571			Cadherin 6.|Extracellular (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1713C>A	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		9	20	1	0	0.00448238	0.004482	0.00878665	9	20				
OR14J1	442191	broad.mit.edu	37	6	29274772	29274772	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:29274772C>T	ENST00000377160.2	+	1	370	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTTTCTTCTTCATAGCTCTGG	0.438																																							uc011dln.1		NA																	0				ovary(1)	1						c.(304-306)TTC>TTT		olfactory receptor, family 5, subfamily U member							170.0	191.0	183.0					6																	29274772		1511	2709	4220	SO:0001819	synonymous_variant	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274772C>T		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.306C>T	6.37:g.29274772C>T							p.F102F	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	306	+			102			Helical; Name=3; (Potential).		A2BEC2|B0V078|Q5ST27	Silent	SNP	ENST00000377160.2	37	c.306C>T	CCDS34362.1																																																																																				0.438	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			16	213	0	0	0	0.00499	0	16	213				
DNAH8	1769	broad.mit.edu	37	6	38885911	38885911	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:38885911C>G	ENST00000359357.3	+	68	10122	c.9868C>G	c.(9868-9870)Ctg>Gtg	p.L3290V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3254V|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3507V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3290	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTGTTGCCTCTGAAGGTAAA	0.373																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9868-9870)CTG>GTG		dynein, axonemal, heavy polypeptide 8							59.0	62.0	61.0					6																	38885911		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38885911C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9868C>G	6.37:g.38885911C>G	ENSP00000352312:p.Leu3290Val					uc003oof.1_Intron	p.L3290V	NM_001371	NP_001362					68	10468	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9868C>G		.	.	.	.	.	.	.	.	.	.	C	17.57	3.423064	0.62733	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.74106	-0.81;-0.81;-0.81	5.72	3.9	0.45041	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.64402	D	0.000002	D	0.86477	0.5942	H	0.94423	3.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.88348	0.2979	10	0.42905	T	0.14	.	13.1425	0.59442	0.0:0.8659:0.0:0.1341	.	3290	Q96JB1	DYH8_HUMAN	V	3495;3495;3290;3254	ENSP00000333363:L3495V;ENSP00000352312:L3290V;ENSP00000402294:L3254V	ENSP00000333363:L3495V	L	+	1	2	DNAH8	38993889	0.931000	0.31567	0.996000	0.52242	0.967000	0.64934	2.014000	0.40951	1.393000	0.46605	0.650000	0.86243	CTG		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	46	0	0	0	0.001168	0	6	46				
C6orf226	441150	broad.mit.edu	37	6	42858486	42858486	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:42858486G>C	ENST00000408925.2	-	1	68	c.41C>G	c.(40-42)tCt>tGt	p.S14C		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	14										lung(2)	2						AGCTGAGGCAGAGGCCGGGGC	0.672																																							uc003osw.2		NA																	0					0						c.(40-42)TCT>TGT		hypothetical protein LOC441150							31.0	40.0	37.0					6																	42858486		1988	4150	6138	SO:0001583	missense	441150							g.chr6:42858486G>C	BC051007, BC060325	CCDS43463.1	6p21.1	2009-02-11			ENSG00000221821	ENSG00000221821			34431	protein-coding gene	gene with protein product							Standard	NM_001008739		Approved	LOC441150	uc003osw.3	Q5I0X4	OTTHUMG00000156926	ENST00000408925.2:c.41C>G	6.37:g.42858486G>C	ENSP00000386146:p.Ser14Cys						p.S14C	NM_001008739	NP_001008739	Q5I0X4	CF226_HUMAN			1	69	-			14						Missense_Mutation	SNP	ENST00000408925.2	37	c.41C>G	CCDS43463.1	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729099	0.15507	.	.	ENSG00000221821	ENST00000408925	.	.	.	4.58	3.7	0.42460	.	0.812390	0.10352	U	0.684986	T	0.15435	0.0372	N	0.14661	0.345	0.09310	N	1	P	0.43169	0.8	P	0.46144	0.505	T	0.14615	-1.0466	9	0.72032	D	0.01	0.9786	10.9645	0.47403	0.0:0.1882:0.8118:0.0	.	14	Q5I0X4	CF226_HUMAN	C	14	.	ENSP00000386146:S14C	S	-	2	0	C6orf226	42966464	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.006000	0.13152	1.288000	0.44600	0.561000	0.74099	TCT		0.672	C6orf226-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346635.1	NM_001008739		14	92	0	0	0	0.003163	0	14	92				
GPR116	221395	broad.mit.edu	37	6	46847599	46847599	+	Missense_Mutation	SNP	G	G	A	rs199931272		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:46847599G>A	ENST00000283296.7	-	9	1280	c.992C>T	c.(991-993)tCg>tTg	p.S331L	GPR116_ENST00000265417.7_Missense_Mutation_p.S331L|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.S331L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	331	Ig-like 1.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTGGACACCGAAGTCATGTT	0.453																																					NSCLC(59;410 1274 8751 36715 50546)	NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(991-993)TCG>TTG		G-protein coupled receptor 116 precursor							200.0	168.0	179.0					6																	46847599		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46847599G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.992C>T	6.37:g.46847599G>A	ENSP00000283296:p.Ser331Leu					GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.S331L|GPR116_uc010jzi.1_Missense_Mutation_p.S3L|GPR116_uc003oyr.2_Missense_Mutation_p.S331L	p.S331L	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		9	1281	-			331			Ig-like 1.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.992C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	8.310	0.821872	0.16678	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.68181	-0.31;-0.31;-0.31	5.87	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.293204	0.25575	N	0.029737	T	0.45935	0.1367	L	0.59436	1.845	0.80722	D	1	B;B;B	0.34226	0.443;0.443;0.443	B;B;B	0.31812	0.136;0.136;0.136	T	0.51957	-0.8639	10	0.41790	T	0.15	-6.8893	10.0373	0.42135	0.0933:0.0:0.9067:0.0	.	331;331;331	E9PBS6;A8K0D8;Q8IZF2	.;.;GP116_HUMAN	L	331	ENSP00000283296:S331L;ENSP00000354563:S331L;ENSP00000265417:S331L	ENSP00000265417:S331L	S	-	2	0	GPR116	46955558	0.995000	0.38212	0.845000	0.33349	0.078000	0.17371	2.930000	0.48924	1.467000	0.48044	0.591000	0.81541	TCG		0.453	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		9	137	0	0	0	0.006214	0	9	137				
REV3L	5980	broad.mit.edu	37	6	111714122	111714122	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:111714122G>C	ENST00000358835.3	-	6	1073	c.619C>G	c.(619-621)Ctt>Gtt	p.L207V	REV3L_ENST00000368802.3_Missense_Mutation_p.L207V|REV3L_ENST00000368805.1_Missense_Mutation_p.L207V|REV3L_ENST00000435970.1_Missense_Mutation_p.L129V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	207					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTATCAGCAAGAGAATTTCCT	0.313								DNA polymerases (catalytic subunits)																															uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(619-621)CTT>GTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							71.0	71.0	71.0					6																	111714122		2203	4297	6500	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111714122G>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.619C>G	6.37:g.111714122G>C	ENSP00000351697:p.Leu207Val					REV3L_uc003pux.3_Missense_Mutation_p.L129V|REV3L_uc003puz.3_Missense_Mutation_p.L129V	p.L207V	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	5	942	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	207					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.619C>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261674	0.23051	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01538	4.88;4.88;4.88;4.79	5.27	3.37	0.38596	Ribonuclease H-like (1);	1.181460	0.05951	N	0.638808	T	0.00608	0.0020	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47420	-0.9119	10	0.16420	T	0.52	.	5.003	0.14273	0.081:0.1181:0.5884:0.2125	.	207	O60673	DPOLZ_HUMAN	V	207;207;207;129	ENSP00000357792:L207V;ENSP00000357795:L207V;ENSP00000351697:L207V;ENSP00000402003:L129V	ENSP00000351697:L207V	L	-	1	0	REV3L	111820815	0.601000	0.26907	0.296000	0.24974	0.926000	0.56050	0.153000	0.16323	1.223000	0.43536	0.557000	0.71058	CTT		0.313	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		5	16	0	0	0	0.001168	0	5	16				
KPNA5	3841	broad.mit.edu	37	6	117023208	117023208	+	Silent	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:117023208T>C	ENST00000368564.1	+	6	610	c.462T>C	c.(460-462)aaT>aaC	p.N154N	KPNA5_ENST00000356348.1_Silent_p.N154N			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	151	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CATTAACAAATATAGCATCTG	0.358																																							uc003pxh.2		NA																	0				breast(3)|skin(1)	4						c.(460-462)AAT>AAC		karyopherin alpha 5							99.0	98.0	99.0					6																	117023208		2203	4300	6503	SO:0001819	synonymous_variant	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117023208T>C	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.462T>C	6.37:g.117023208T>C							p.N154N	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	6	593	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	151			NLS binding site (major) (By similarity).|ARM 2.		B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	c.462T>C	CCDS5111.1																																																																																				0.358	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		6	40	0	0	0	0.001984	0	6	40				
LATS1	9113	broad.mit.edu	37	6	150004976	150004976	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:150004976G>C	ENST00000543571.1	-	4	1796	c.1249C>G	c.(1249-1251)Cat>Gat	p.H417D	LATS1_ENST00000253339.5_Missense_Mutation_p.H417D|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.H417D	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCCATGTTATGACTATTTCTG	0.453																																							uc003qmu.1		NA																	0				lung(5)|central_nervous_system(1)	6						c.(1249-1251)CAT>GAT		LATS homolog 1							156.0	163.0	161.0					6																	150004976		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004976G>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1249C>G	6.37:g.150004976G>C	ENSP00000437550:p.His417Asp					LATS1_uc010kif.1_Missense_Mutation_p.H312D|LATS1_uc003qmv.1_Missense_Mutation_p.H417D|LATS1_uc003qmw.2_Missense_Mutation_p.H417D|LATS1_uc010kig.1_Missense_Mutation_p.H312D	p.H417D	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1797	-		Ovarian(120;0.0164)	417						Missense_Mutation	SNP	ENST00000543571.1	37	c.1249C>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038594	0.75617	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.53206	0.63;0.63;3.2	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000010	T	0.59636	0.2208	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.995	P;D;D	0.85130	0.885;0.997;0.922	T	0.56745	-0.7928	9	.	.	.	.	18.921	0.92525	0.0:0.0:1.0:0.0	.	269;417;417	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	D	417	ENSP00000437550:H417D;ENSP00000253339:H417D;ENSP00000444678:H417D	.	H	-	1	0	LATS1	150046669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.468000	0.97676	2.488000	0.83962	0.655000	0.94253	CAT		0.453	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		29	108	0	0	0	0.007291	0	29	108				
SYNE1	23345	broad.mit.edu	37	6	152599341	152599341	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:152599341C>T	ENST00000367255.5	-	98	19057	c.18456G>A	c.(18454-18456)ctG>ctA	p.L6152L	SYNE1_ENST00000356820.4_Silent_p.L676L|SYNE1_ENST00000448038.1_Silent_p.L6081L|SYNE1_ENST00000341594.5_Silent_p.L5764L|SYNE1_ENST00000265368.4_Silent_p.L6152L|SYNE1_ENST00000423061.1_Silent_p.L6081L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6152					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCCCTCCAGCAGCAGGT	0.522										HNSCC(10;0.0054)																													uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18454-18456)CTG>CTA		spectrin repeat containing, nuclear envelope 1							156.0	159.0	158.0					6																	152599341		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152599341C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18456G>A	6.37:g.152599341C>T		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L676L|SYNE1_uc003qos.3_Silent_p.L676L|SYNE1_uc003qot.3_Silent_p.L6081L|SYNE1_uc003qou.3_Silent_p.L6152L|SYNE1_uc010kiy.1_Silent_p.L331L	p.L6152L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	98	19058	-		Ovarian(120;0.0955)	6152			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.18456G>A	CCDS5236.2																																																																																				0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		31	89	0	0	0	0.001786	0	31	89				
PDE10A	10846	broad.mit.edu	37	6	165863740	165863740	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:165863740G>A	ENST00000366882.1	-	5	460	c.306C>T	c.(304-306)atC>atT	p.I102I	PDE10A_ENST00000539869.2_Silent_p.I112I|PDE10A_ENST00000354448.4_Silent_p.I102I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	102	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.I102I(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTATTTTAATGATGCTGCTCA	0.378																																					Esophageal Squamous(22;308 615 5753 12038 40624)	Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(304-306)ATC>ATT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						175.0	161.0	166.0					6																	165863740		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165863740G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.306C>T	6.37:g.165863740G>A						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.I32I|PDE10A_uc003quo.2_Silent_p.I112I	p.I102I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	5	547	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	102			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.306C>T																																																																																					0.378	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			17	60	0	0	0	0.007413	0	17	60				
ABCA13	154664	broad.mit.edu	37	7	48317992	48317992	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:48317992G>C	ENST00000435803.1	+	18	7225	c.7201G>C	c.(7201-7203)Gac>Cac	p.D2401H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2401					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAAGTCTGAGGACCTCTTCAA	0.383																																							uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7201-7203)GAC>CAC		ATP binding cassette, sub-family A (ABC1),							53.0	51.0	52.0					7																	48317992		1837	4093	5930	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317992G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7201G>C	7.37:g.48317992G>C	ENSP00000411096:p.Asp2401His					ABCA13_uc010kys.1_5'Flank	p.D2401H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7226	+			2401					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7201G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286589	0.40494	.	.	ENSG00000179869	ENST00000435803	T	0.58652	0.32	4.92	-0.401	0.12407	.	0.263270	0.26563	N	0.023675	T	0.51363	0.1670	L	0.34521	1.04	0.18873	N	0.999986	D	0.71674	0.998	P	0.59703	0.862	T	0.46148	-0.9212	10	0.87932	D	0	.	1.3392	0.02151	0.1716:0.1381:0.3793:0.311	.	2401	Q86UQ4	ABCAD_HUMAN	H	2401	ENSP00000411096:D2401H	ENSP00000411096:D2401H	D	+	1	0	ABCA13	48288538	0.002000	0.14202	0.000000	0.03702	0.016000	0.09150	0.237000	0.17985	-0.301000	0.08882	-1.045000	0.02358	GAC		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	29	0	0	0	0.006214	0	10	29				
PON2	5445	broad.mit.edu	37	7	95041643	95041643	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:95041643G>C	ENST00000222572.3	-	4	594	c.348C>G	c.(346-348)atC>atG	p.I116M	PON2_ENST00000483292.1_5'Flank|PON2_ENST00000433091.2_Missense_Mutation_p.I116M|PON2_ENST00000536183.1_Missense_Mutation_p.I137M			Q15165	PON2_HUMAN	paraoxonase 2	116					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TGAAAGTGCTGATGCCATGTG	0.393																																					GBM(42;803 823 13649 23368 31463)	GBM(42;803 823 13649 23368 31463)	uc003unv.2		NA																	0					0						c.(346-348)ATC>ATG		paraoxonase 2 isoform 1							196.0	167.0	177.0					7																	95041643		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95041643G>C	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.348C>G	7.37:g.95041643G>C	ENSP00000222572:p.Ile116Met					PON2_uc003unu.2_Missense_Mutation_p.I116M|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.I29M	p.I116M	NM_000305	NP_000296	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	469	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		116				Calcium 2; via carbonyl oxygen (By similarity).	A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.348C>G	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884391	0.51908	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.52057	1.32;0.68;1.32	4.6	2.76	0.32466	Six-bladed beta-propeller, TolB-like (1);	0.047954	0.85682	D	0.000000	T	0.47097	0.1427	L	0.48174	1.505	0.47245	D	0.999368	P;P	0.49358	0.832;0.923	P;P	0.52343	0.696;0.696	T	0.34329	-0.9833	10	0.42905	T	0.14	-9.3209	6.468	0.21993	0.1547:0.1484:0.6969:0.0	.	116;116	A4D1H7;Q15165	.;PON2_HUMAN	M	137;114;116;116	ENSP00000440282:I137M;ENSP00000404622:I116M;ENSP00000222572:I116M	ENSP00000222572:I116M	I	-	3	3	PON2	94879579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.820000	0.48057	0.651000	0.30788	0.561000	0.74099	ATC		0.393	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		20	38	0	0	0	0.00278	0	20	38				
SLC12A9	56996	broad.mit.edu	37	7	100463720	100463720	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:100463720C>T	ENST00000354161.3	+	14	2363	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	746					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTGCGGCCTCTTCCTGCTGC	0.697																																							uc003uwp.2		NA																	0					0						c.(2236-2238)CTC>CTT		solute carrier family 12 (potassium/chloride							70.0	87.0	81.0					7																	100463720		2201	4293	6494	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463720C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2238C>T	7.37:g.100463720C>T						SLC12A9_uc011kki.1_Silent_p.L277L|SLC12A9_uc003uwr.2_Silent_p.L482L|SLC12A9_uc003uws.2_Silent_p.L277L|SLC12A9_uc003uwt.2_Silent_p.L482L|SLC12A9_uc003uwv.2_Silent_p.L277L|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	p.L746L	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			14	2380	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		746			Helical; (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.2238C>T	CCDS5707.1																																																																																				0.697	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		17	98	0	0	0	0.001216	0	17	98				
RELN	5649	broad.mit.edu	37	7	103207077	103207077	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:103207077G>A	ENST00000428762.1	-	32	4877	c.4718C>T	c.(4717-4719)aCg>aTg	p.T1573M	RELN_ENST00000424685.2_Missense_Mutation_p.T1573M|RELN_ENST00000343529.5_Missense_Mutation_p.T1573M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1573					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGAAATGCCGTTGCAGGTGT	0.498																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4717-4719)ACG>ATG		reelin isoform a							123.0	107.0	112.0					7																	103207077		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103207077G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4718C>T	7.37:g.103207077G>A	ENSP00000392423:p.Thr1573Met					RELN_uc010liz.2_Missense_Mutation_p.T1573M	p.T1573M	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	32	4878	-			1573					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4718C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936295	0.73442	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.34472	1.36;1.36;1.36	5.95	5.95	0.96441	.	0.050740	0.85682	D	0.000000	T	0.65903	0.2736	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.67639	-0.5619	10	0.87932	D	0	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	1573;1573	P78509-2;P78509	.;RELN_HUMAN	M	1573	ENSP00000392423:T1573M;ENSP00000345694:T1573M;ENSP00000388446:T1573M	ENSP00000345694:T1573M	T	-	2	0	RELN	102994313	1.000000	0.71417	0.171000	0.22900	0.742000	0.42306	9.189000	0.94928	2.826000	0.97356	0.491000	0.48974	ACG		0.498	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	28	0	0	0	0.003163	0	15	28				
STRIP2	57464	broad.mit.edu	37	7	129122844	129122844	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:129122844G>C	ENST00000249344.2	+	20	2251	c.2211G>C	c.(2209-2211)caG>caC	p.Q737H	RNU1-72P_ENST00000362976.1_RNA|STRIP2_ENST00000435494.2_Missense_Mutation_p.Q737H	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	737					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CCATTTACCAGAAAGTGCGTC	0.468																																							uc011koy.1		NA																	0					0						c.(2209-2211)CAG>CAC		hypothetical protein LOC57464 isoform a							94.0	79.0	84.0					7																	129122844		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129122844G>C	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2211G>C	7.37:g.129122844G>C	ENSP00000249344:p.Gln737His					FAM40B_uc003vow.2_Missense_Mutation_p.Q737H|FAM40B_uc011koz.1_Missense_Mutation_p.Q229H	p.Q737H	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			20	2251	+			737					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.2211G>C	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553217	0.65425	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.47177	0.85;0.85	5.32	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.75777	2.31	0.80722	D	1	D;P	0.67145	0.996;0.86	D;P	0.81914	0.995;0.535	T	0.66412	-0.5930	10	0.34782	T	0.22	-23.6756	13.7395	0.62838	0.0751:0.0:0.9249:0.0	.	737;737	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	H	737	ENSP00000249344:Q737H;ENSP00000392393:Q737H	ENSP00000249344:Q737H	Q	+	3	2	FAM40B	128910080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.348000	0.73009	1.373000	0.46208	0.655000	0.94253	CAG		0.468	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		4	19	0	0	0	0.000248	0	4	19				
TMEM176A	55365	broad.mit.edu	37	7	150498696	150498696	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:150498696G>C	ENST00000484928.1	+	2	639	c.58G>C	c.(58-60)Gat>Cat	p.D20H	TMEM176A_ENST00000461345.1_Intron|TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000447204.2_5'Flank|TMEM176B_ENST00000326442.5_5'Flank|TMEM176A_ENST00000004103.3_Missense_Mutation_p.D20H|TMEM176B_ENST00000492607.1_5'Flank|TMEM176B_ENST00000450753.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	20					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCCACATCGATGTGCACAT	0.652																																							uc003whx.1		NA																	0				ovary(2)	2						c.(58-60)GAT>CAT		hepatocellular carcinoma-associated antigen 112							48.0	44.0	45.0					7																	150498696		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150498696G>C	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.58G>C	7.37:g.150498696G>C	ENSP00000417626:p.Asp20His					TMEM176B_uc003wht.3_5'Flank|TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank	p.D20H	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	136	+			20					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.58G>C	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111676	0.20714	.	.	ENSG00000002933	ENST00000484928;ENST00000004103	T;T	0.08102	3.13;3.13	3.77	-7.53	0.01336	.	0.809387	0.10549	N	0.661729	T	0.05686	0.0149	L	0.39898	1.24	0.09310	N	0.999999	B	0.14012	0.009	B	0.11329	0.006	T	0.31166	-0.9953	10	0.48119	T	0.1	-24.638	6.6311	0.22857	0.471:0.345:0.1841:0.0	.	20	Q96HP8	T176A_HUMAN	H	20	ENSP00000417626:D20H;ENSP00000004103:D20H	ENSP00000004103:D20H	D	+	1	0	TMEM176A	150129629	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-2.618000	0.00880	-1.842000	0.01181	-0.745000	0.03516	GAT		0.652	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		8	21	0	0	0	0.004482	0	8	21				
SLC35G5	83650	broad.mit.edu	37	8	11189308	11189308	+	Silent	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:11189308G>T	ENST00000382435.4	+	1	912	c.693G>T	c.(691-693)ctG>ctT	p.L231L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	231						integral component of membrane (GO:0016021)											TGGTGGGGCTGCTGGGCTGTG	0.632																																							uc003wtp.1		NA																	0					0						c.(691-693)CTG>CTT		acyl-malonyl condensing enzyme							29.0	47.0	41.0					8																	11189308		2194	4285	6479	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11189308G>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.693G>T	8.37:g.11189308G>T							p.L231L	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	814	+			231			Helical; (Potential).		A2RRL6	Silent	SNP	ENST00000382435.4	37	c.693G>T	CCDS5980.1																																																																																				0.632	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		10	62	1	0	2.27111e-07	0.001368	4.76772e-07	10	62				
KIAA1456	57604	broad.mit.edu	37	8	12879335	12879335	+	Missense_Mutation	SNP	G	G	A	rs570175321		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:12879335G>A	ENST00000524591.2	+	5	1636	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	383							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTCTGCAGTTGATTCCACAGA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		21731	0.0		0.0	False		,,,				2504	0.001						uc010lsq.2		NA																	0					0						c.(1147-1149)GAT>AAT		hypothetical protein LOC57604 isoform 1							72.0	68.0	69.0					8																	12879335		1899	4127	6026	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12879335G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1147G>A	8.37:g.12879335G>A	ENSP00000432695:p.Asp383Asn					C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.D296N|C8orf79_uc010lsr.2_Missense_Mutation_p.D257N	p.D383N	NM_020844	NP_065895	Q9P272	K1456_HUMAN			5	1639	+			383					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.1147G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385198	0.25031	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.13307	2.6	4.75	-4.37	0.03633	.	2.300950	0.01139	N	0.006160	T	0.10852	0.0265	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32745	-0.9895	10	0.39692	T	0.17	0.2002	7.2041	0.25897	0.4546:0.1979:0.3475:0.0	.	383	Q9P272	K1456_HUMAN	N	383;296	ENSP00000432695:D383N	ENSP00000432695:D383N	D	+	1	0	AC135352.2	12923706	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.268000	0.18571	-0.722000	0.04922	-0.136000	0.14681	GAT		0.413	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		8	20	0	0	0	0.00308	0	8	20				
OPRK1	4986	broad.mit.edu	37	8	54141989	54141989	+	Silent	SNP	G	G	A	rs201720764		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:54141989G>A	ENST00000265572.3	-	4	1308	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	OPRK1_ENST00000524278.1_Silent_p.F248F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.F337F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	337					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACACCGCTTGAAGTTTTCAT	0.493																																							uc003xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1009-1011)TTC>TTT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						76.0	71.0	73.0					8																	54141989		2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54141989G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.1011C>T	8.37:g.54141989G>A						OPRK1_uc003xri.1_Silent_p.F337F|OPRK1_uc010lyc.1_Silent_p.F248F	p.F337F	NM_000912	NP_000903	P41145	OPRK_HUMAN			3	1386	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	337			Cytoplasmic (Potential).		E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.1011C>T	CCDS6152.1																																																																																				0.493	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			4	40	0	0	0	0.000248	0	4	40				
PTP4A3	11156	broad.mit.edu	37	8	142444085	142444085	+	IGR	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:142444085C>T	ENST00000521578.1	+	0	1717				MROH5_ENST00000430863.1_RNA|CTD-3064M3.7_ENST00000606664.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3						peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CCGACACCTTCTGGAGGAAGG	0.637																																							uc003ywi.2		NA																	0					0						c.(3928-3930)CAG>CAA		hypothetical protein LOC389690							50.0	62.0	58.0					8																	142444085		2105	4203	6308	SO:0001628	intergenic_variant	389690						binding	g.chr8:142444085C>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365			8.37:g.142444085C>T						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.Q1310Q	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		32	4011	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		1310					Q8IVN5|Q99849|Q9BTW5	Silent	SNP	ENST00000521578.1	37	c.3930G>A	CCDS6383.1																																																																																				0.637	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		5	17	0	0	0	0.000602	0	5	17				
PLEC	5339	broad.mit.edu	37	8	144992130	144992130	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:144992130C>T	ENST00000322810.4	-	32	12439	c.12270G>A	c.(12268-12270)atG>atA	p.M4090I	PLEC_ENST00000356346.3_Missense_Mutation_p.M3939I|PLEC_ENST00000398774.2_Missense_Mutation_p.M3921I|PLEC_ENST00000436759.2_Missense_Mutation_p.M3980I|PLEC_ENST00000527096.1_Missense_Mutation_p.M3976I|PLEC_ENST00000345136.3_Missense_Mutation_p.M3953I|PLEC_ENST00000354589.3_Missense_Mutation_p.M3953I|PLEC_ENST00000357649.2_Missense_Mutation_p.M3957I|PLEC_ENST00000354958.2_Missense_Mutation_p.M3931I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4090	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCCTTCTTCATGGCCTGGT	0.612																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(12268-12270)ATG>ATA		plectin isoform 1							28.0	33.0	31.0					8																	144992130		2124	4227	6351	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992130C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12270G>A	8.37:g.144992130C>T	ENSP00000323856:p.Met4090Ile					PLEC_uc003zab.1_Missense_Mutation_p.M3953I|PLEC_uc003zac.1_Missense_Mutation_p.M3957I|PLEC_uc003zad.2_Missense_Mutation_p.M3953I|PLEC_uc003zae.1_Missense_Mutation_p.M3921I|PLEC_uc003zag.1_Missense_Mutation_p.M3931I|PLEC_uc003zah.2_Missense_Mutation_p.M3939I|PLEC_uc003zaj.2_Missense_Mutation_p.M3980I	p.M4090I	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	12440	-			4090			Plectin 22.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12270G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	3.950	-0.012501	0.07727	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.94	4.94	0.65067	.	0.000000	0.85682	U	0.000000	T	0.67277	0.2876	M	0.64404	1.975	0.53005	D	0.999961	B;B;B;B;B;B;B;B	0.22003	0.051;0.051;0.051;0.063;0.051;0.051;0.051;0.051	B;B;B;B;B;B;B;B	0.33454	0.102;0.102;0.102;0.164;0.102;0.102;0.102;0.102	T	0.68315	-0.5441	10	0.72032	D	0.01	.	12.7296	0.57191	0.0:0.9185:0.0:0.0815	.	3980;3939;3931;4090;3921;3953;3957;3953	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	I	3953;3957;3953;3921;4090;3931;3939;3980;3976	ENSP00000344848:M3953I;ENSP00000350277:M3957I;ENSP00000346602:M3953I;ENSP00000381756:M3921I;ENSP00000323856:M4090I;ENSP00000347044:M3931I;ENSP00000348702:M3939I;ENSP00000388180:M3980I;ENSP00000434583:M3976I	ENSP00000323856:M4090I	M	-	3	0	PLEC	145064118	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.780000	0.62382	2.567000	0.86603	0.549000	0.68633	ATG		0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	31	0	0	0	0.00308	0	8	31				
PLEC	5339	broad.mit.edu	37	8	144992966	144992966	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:144992966C>T	ENST00000322810.4	-	32	11603	c.11434G>A	c.(11434-11436)Gag>Aag	p.E3812K	PLEC_ENST00000356346.3_Missense_Mutation_p.E3661K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3643K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3702K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3698K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3675K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3675K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3679K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3653K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3812	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGAGAGCCTCACGGAGGCTC	0.652																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11434-11436)GAG>AAG		plectin isoform 1							25.0	30.0	29.0					8																	144992966		1946	4127	6073	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992966C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11434G>A	8.37:g.144992966C>T	ENSP00000323856:p.Glu3812Lys					PLEC_uc003zab.1_Missense_Mutation_p.E3675K|PLEC_uc003zac.1_Missense_Mutation_p.E3679K|PLEC_uc003zad.2_Missense_Mutation_p.E3675K|PLEC_uc003zae.1_Missense_Mutation_p.E3643K|PLEC_uc003zag.1_Missense_Mutation_p.E3653K|PLEC_uc003zah.2_Missense_Mutation_p.E3661K|PLEC_uc003zaj.2_Missense_Mutation_p.E3702K	p.E3812K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11604	-			3812			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11434G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754343	0.31046	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.25	3.36	0.38483	.	0.180634	0.32884	U	0.005537	T	0.69314	0.3097	M	0.65975	2.015	0.42892	D	0.994204	B;B;B;B;B;B;B;B	0.28760	0.073;0.221;0.073;0.043;0.073;0.073;0.073;0.073	B;B;B;B;B;B;B;B	0.30855	0.121;0.121;0.121;0.057;0.121;0.121;0.121;0.121	T	0.71862	-0.4464	10	0.87932	D	0	.	13.7725	0.63034	0.0:0.8446:0.1554:0.0	.	3702;3661;3653;3812;3643;3675;3679;3675	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3675;3679;3675;3643;3812;3653;3661;3702;3698	ENSP00000344848:E3675K;ENSP00000350277:E3679K;ENSP00000346602:E3675K;ENSP00000381756:E3643K;ENSP00000323856:E3812K;ENSP00000347044:E3653K;ENSP00000348702:E3661K;ENSP00000388180:E3702K;ENSP00000434583:E3698K	ENSP00000323856:E3812K	E	-	1	0	PLEC	145064954	0.976000	0.34144	0.362000	0.25862	0.845000	0.48019	2.461000	0.45040	0.984000	0.38629	0.448000	0.29417	GAG		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	51	0	0	0	0.000673	0	9	51				
DMRT1	1761	broad.mit.edu	37	9	893951	893951	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:893951G>A	ENST00000382276.3	+	3	727	c.578G>A	c.(577-579)aGc>aAc	p.S193N	DMRT1_ENST00000569227.1_Missense_Mutation_p.S35N	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	193					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCTGTCACCAGCAGAGGGCAT	0.428											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003zgv.2		NA																	0				ovary(1)	1						c.(577-579)AGC>AAC		doublesex and mab-3 related transcription factor							90.0	77.0	82.0					9																	893951		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:893951G>A	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.578G>A	9.37:g.893951G>A	ENSP00000371711:p.Ser193Asn		OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	DMRT1_uc003zgu.1_Missense_Mutation_p.S193N	p.S193N	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	3	727	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	193					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.578G>A	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776140	0.90195	.	.	ENSG00000137090	ENST00000382276	T	0.22134	1.97	5.92	5.92	0.95590	.	0.189455	0.56097	D	0.000039	T	0.54727	0.1876	M	0.85630	2.765	0.49687	D	0.999819	D;D	0.89917	0.997;1.0	D;D	0.91635	0.992;0.999	T	0.56902	-0.7902	10	0.62326	D	0.03	.	20.3657	0.98878	0.0:0.0:1.0:0.0	.	193;193	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	N	193	ENSP00000371711:S193N	ENSP00000371711:S193N	S	+	2	0	DMRT1	883951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.962000	0.76048	2.820000	0.97059	0.650000	0.86243	AGC		0.428	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		18	15	0	0	0	0.001523	0	18	15				
MPDZ	8777	broad.mit.edu	37	9	13121878	13121878	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:13121878C>T	ENST00000319217.7	-	38	5338	c.5091G>A	c.(5089-5091)ctG>ctA	p.L1697L	MPDZ_ENST00000381015.4_Silent_p.L1697L|MPDZ_ENST00000447879.1_Silent_p.L1664L|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000538841.1_Silent_p.L556L|MPDZ_ENST00000381022.2_Silent_p.L1697L|MPDZ_ENST00000546205.1_Silent_p.L1711L|MPDZ_ENST00000536827.1_Silent_p.L1664L|MPDZ_ENST00000541718.1_Silent_p.L1697L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1697	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCGTCTGTCTCAGGACATTGA	0.478																																							uc010mia.1		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(5089-5091)CTG>CTA		multiple PDZ domain protein							94.0	86.0	88.0					9																	13121878		2017	4195	6212	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13121878C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5091G>A	9.37:g.13121878C>T						MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Silent_p.L231L|MPDZ_uc010mib.2_Silent_p.L402L|MPDZ_uc010mhx.2_Silent_p.L519L|MPDZ_uc011lmm.1_Silent_p.L556L|MPDZ_uc003zkz.3_Silent_p.L390L|MPDZ_uc010mhy.2_Silent_p.L1697L|MPDZ_uc010mhz.2_Silent_p.L1664L|MPDZ_uc011lmn.1_Silent_p.L1664L|MPDZ_uc003zlb.3_Silent_p.L1697L	p.L1697L	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	37	5148	-			1697			PDZ 10.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.5091G>A																																																																																					0.478	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		5	22	0	0	0	0.000602	0	5	22				
DENND4C	55667	broad.mit.edu	37	9	19372102	19372102	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:19372102G>A	ENST00000380432.2	+	28	4986	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q	RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000434457.2_Silent_p.Q1936Q|DENND4C_ENST00000602925.1_Silent_p.Q1887Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1651					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAGGTTGCAGAAAATTGATG	0.378																																							uc003znq.2		NA																	0				ovary(1)|skin(1)	2						c.(4951-4953)CAG>CAA		DENN/MADD domain containing 4C							112.0	120.0	118.0					9																	19372102		2203	4300	6503	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19372102G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4953G>A	9.37:g.19372102G>A						DENND4C_uc011lnc.1_Silent_p.Q981Q|DENND4C_uc011lnd.1_Silent_p.Q939Q|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR	p.Q1651Q	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			28	4986	+			1651					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.4953G>A																																																																																					0.378	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		24	58	0	0	0	0.003954	0	24	58				
OR13J1	392309	broad.mit.edu	37	9	35869976	35869976	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:35869976G>A	ENST00000377981.2	-	1	485	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGCAGCACGCAGAGCCGGT	0.627																																							uc011lph.1		NA																	0				central_nervous_system(1)	1						c.(421-423)TGC>TGT		olfactory receptor, family 13, subfamily J,							55.0	62.0	60.0					9																	35869976		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869976G>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.423C>T	9.37:g.35869976G>A							p.C141C	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	423	-	all_epithelial(49;0.169)		141			Helical; Name=4; (Potential).		B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.423C>T	CCDS35011.1																																																																																				0.627	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			7	34	0	0	0	0.001984	0	7	34				
FRMPD1	22844	broad.mit.edu	37	9	37746696	37746696	+	Missense_Mutation	SNP	G	G	A	rs202028346		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:37746696G>A	ENST00000539465.1	+	16	5260	c.4667G>A	c.(4666-4668)cGt>cAt	p.R1556H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1556H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1556						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCTGGCCCGTCAGTGCACG	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15302	0.0		0.0	False		,,,				2504	0.0						uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4666-4668)CGT>CAT		FERM and PDZ domain containing 1							104.0	108.0	106.0					9																	37746696		2203	4299	6502	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746696G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4667G>A	9.37:g.37746696G>A	ENSP00000444411:p.Arg1556His					FRMPD1_uc004aah.1_Missense_Mutation_p.R1556H	p.R1556H	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4711	+			1556					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4667G>A	CCDS6612.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.66	3.184777	0.57909	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.12255	2.7;2.7	5.71	4.82	0.62117	.	0.117695	0.64402	N	0.000020	T	0.14874	0.0359	L	0.59436	1.845	0.80722	D	1	B	0.30179	0.271	B	0.18263	0.021	T	0.02047	-1.1223	10	0.72032	D	0.01	-13.5164	12.5065	0.55984	0.0809:0.0:0.9191:0.0	.	1556	Q5SYB0	FRPD1_HUMAN	H	1556	ENSP00000366995:R1556H;ENSP00000444411:R1556H	ENSP00000366995:R1556H	R	+	2	0	FRMPD1	37736696	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.691000	0.47010	1.424000	0.47217	0.655000	0.94253	CGT		0.592	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		24	75	0	0	0	0.004656	0	24	75				
FRMD3	257019	broad.mit.edu	37	9	86153022	86153022	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:86153022G>C	ENST00000304195.3	-	1	331	c.125C>G	c.(124-126)tCg>tGg	p.S42W	FRMD3_ENST00000376438.1_Missense_Mutation_p.S42W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	42	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGAGATCTCCGAGTCGTCCAG	0.652																																							uc004ams.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(124-126)TCG>TGG		FERM domain containing 3							25.0	31.0	29.0					9																	86153022		2036	4178	6214	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:86153022G>C	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.125C>G	9.37:g.86153022G>C	ENSP00000303508:p.Ser42Trp					FRMD3_uc004amr.1_Missense_Mutation_p.S28W	p.S42W	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			1	327	-			42			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.125C>G	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718264	0.89205	.	.	ENSG00000172159	ENST00000376438;ENST00000304195	T;T	0.78481	-1.18;-1.18	4.52	4.52	0.55395	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.346678	0.26680	N	0.023044	D	0.90397	0.6994	M	0.90977	3.165	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.76071	0.987;0.978	D	0.92831	0.6280	10	0.87932	D	0	.	17.4109	0.87485	0.0:0.0:1.0:0.0	.	42;42	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	W	42	ENSP00000365621:S42W;ENSP00000303508:S42W	ENSP00000303508:S42W	S	-	2	0	FRMD3	85342842	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.565000	0.67365	2.326000	0.78906	0.591000	0.81541	TCG		0.652	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		4	3	0	0	0	0.000248	0	4	3				
ENG	2022	broad.mit.edu	37	9	130581094	130581094	+	Silent	SNP	G	G	C	rs45502392		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:130581094G>C	ENST00000373203.4	-	11	1729	c.1329C>G	c.(1327-1329)ctC>ctG	p.L443L	ENG_ENST00000344849.3_Silent_p.L443L|ENG_ENST00000480266.1_Intron|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	443	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGTCCATGTTGAGGCAGTGCA	0.627									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																														uc004bsj.3		NA																	0					0						c.(1327-1329)CTC>CTG		endoglin isoform 1 precursor							170.0	159.0	163.0					9																	130581094		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130581094G>C	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1329C>G	9.37:g.130581094G>C						ENG_uc011mam.1_Silent_p.L254L|ENG_uc004bsk.3_Silent_p.L443L|uc004bsl.1_Intron	p.L443L	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			11	1742	-			443			Ser/Thr-rich.|Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.1329C>G	CCDS48029.1																																																																																				0.627	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			34	155	0	0	0	0.004878	0	34	155				
SDCCAG3	10807	broad.mit.edu	37	9	139302345	139302345	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:139302345C>G	ENST00000357365.3	-	4	464	c.335G>C	c.(334-336)aGa>aCa	p.R112T	SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.R89T|PMPCA_ENST00000371717.3_5'Flank|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.R39T|PMPCA_ENST00000399219.3_5'Flank|PMPCA_ENST00000371720.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	112						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGAAACTCTCTAAAAGAGAA	0.448																																							uc004chi.2		NA																	0					0						c.(334-336)AGA>ACA		serologically defined colon cancer antigen 3							101.0	104.0	103.0					9																	139302345		1868	4102	5970	SO:0001583	missense	10807					cytoplasm		g.chr9:139302345C>G	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.335G>C	9.37:g.139302345C>G	ENSP00000349929:p.Arg112Thr					SDCCAG3_uc004chj.2_Missense_Mutation_p.R89T|SDCCAG3_uc004chk.2_Missense_Mutation_p.R39T|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank	p.R112T	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	4	540	-		Myeloproliferative disorder(178;0.0511)	112					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.335G>C	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555445	0.27739	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723;ENST00000446833	T;T;T;T	0.33216	2.25;2.27;2.26;1.42	5.34	5.34	0.76211	.	0.062767	0.64402	D	0.000001	T	0.16981	0.0408	N	0.08118	0	0.21184	N	0.999769	B;B;B	0.24426	0.004;0.103;0.004	B;B;B	0.22601	0.003;0.04;0.002	T	0.18053	-1.0349	10	0.87932	D	0	-16.2885	9.5468	0.39286	0.0:0.084:0.0:0.916	.	39;89;112	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	T	112;89;39;62;103	ENSP00000349929:R112T;ENSP00000298537:R89T;ENSP00000360790:R39T;ENSP00000360788:R62T	ENSP00000298537:R89T	R	-	2	0	SDCCAG3	138422166	1.000000	0.71417	0.997000	0.53966	0.897000	0.52465	2.941000	0.49011	0.860000	0.35481	-0.269000	0.10298	AGA		0.448	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		12	99	0	0	0	0.003163	0	12	99				
CCDC183	84960	broad.mit.edu	37	9	139697160	139697160	+	Silent	SNP	C	C	T	rs199891165		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:139697160C>T	ENST00000338005.6	+	6	623	c.588C>T	c.(586-588)ctC>ctT	p.L196L	RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		196										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		TGCAGAACCTCGTGGTCAACT	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18608	0.0		0.0	False		,,,				2504	0.0						uc004cjf.2		NA																	0				ovary(1)	1						c.(586-588)CTC>CTT		hypothetical protein LOC84960		C		2,4058		0,2,2028	119.0	129.0	125.0		588	-9.7	0.0	9		125	0,8376		0,0,4188	no	coding-synonymous	KIAA1984	NM_001039374.4		0,2,6216	TT,TC,CC		0.0,0.0493,0.0161		196/535	139697160	2,12434	2030	4188	6218	SO:0001819	synonymous_variant	84960							g.chr9:139697160C>T																												ENST00000338005.6:c.588C>T	9.37:g.139697160C>T							p.L196L	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	6	636	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	196			Potential.		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	ENST00000338005.6	37	c.588C>T	CCDS43906.1																																																																																				0.562	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			28	83	0	0	0	0.005443	0	28	83				
ZC4H2	55906	broad.mit.edu	37	X	64139010	64139010	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chrX:64139010G>T	ENST00000374839.3	-	4	579	c.473C>A	c.(472-474)gCa>gAa	p.A158E	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000545618.1_Missense_Mutation_p.A153E|ZC4H2_ENST00000337990.2_Missense_Mutation_p.A135E|ZC4H2_ENST00000447788.2_Intron	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	158					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCAGCGGCTGCAGCGGCCAG	0.587																																							uc004dvu.2		NA																	0				ovary(1)	1						c.(472-474)GCA>GAA		zinc finger, C4H2 domain containing							47.0	43.0	45.0					X																	64139010		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64139010G>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.473C>A	X.37:g.64139010G>T	ENSP00000363972:p.Ala158Glu					ZC4H2_uc004dvv.2_Missense_Mutation_p.A135E|ZC4H2_uc011mov.1_Missense_Mutation_p.A135E|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	p.A158E	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			4	561	-			158					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.473C>A	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877711	0.51801	.	.	ENSG00000126970	ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	T	0.57289	-0.7837	9	0.11182	T	0.66	.	15.7218	0.77718	0.0:0.0:1.0:0.0	.	158	Q9NQZ6	ZC4H2_HUMAN	E	153;158;135	.	ENSP00000338650:A135E	A	-	2	0	ZC4H2	64055735	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.525000	0.98039	2.397000	0.81536	0.597000	0.82753	GCA		0.587	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		21	15	1	0	1.22574e-08	0.002299	2.64831e-08	21	15				
LPAR4	2846	broad.mit.edu	37	X	78011031	78011031	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chrX:78011031C>G	ENST00000435339.3	+	2	1051	c.665C>G	c.(664-666)tCt>tGt	p.S222C		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	222					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGAATGTCTCTTGCTCTTCT	0.373																																							uc010nme.2		NA																	0				ovary(3)	3						c.(664-666)TCT>TGT		lysophosphatidic acid receptor 4							88.0	76.0	80.0					X																	78011031		2202	4299	6501	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011031C>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.665C>G	X.37:g.78011031C>G	ENSP00000408205:p.Ser222Cys						p.S222C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	1070	+			222			Helical; Name=5; (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.665C>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	6.383	0.438730	0.12104	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37584	1.19;1.19	4.2	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.226023	0.35970	U	0.002862	T	0.19765	0.0475	N	0.11255	0.115	0.28657	N	0.906349	B	0.02656	0.0	B	0.01281	0.0	T	0.11891	-1.0569	10	0.39692	T	0.17	.	11.0788	0.48047	0.1866:0.8134:0.0:0.0	.	222	Q99677	LPAR4_HUMAN	C	222	ENSP00000408205:S222C;ENSP00000362398:S222C	ENSP00000362398:S222C	S	+	2	0	LPAR4	77897687	0.532000	0.26346	0.970000	0.41538	0.970000	0.65996	2.621000	0.46418	0.741000	0.32674	0.415000	0.27848	TCT		0.373	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		8	18	0	0	0	0.00308	0	8	18				
F5	2153	broad.mit.edu	37	1	169529792	169529793	+	Splice_Site	INS	-	-	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:169529792_169529793insT	ENST00000367797.3	-	4	786_787	c.585_586insA	c.(583-588)aaaggg>aaaAggg	p.G196fs	F5_ENST00000546081.1_Splice_Site_p.G59fs|F5_ENST00000367796.3_Splice_Site_p.G196fs	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	196	F5/8 type A 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTGTTCTTACCTTTTTTACAGA	0.446																																							uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	GRCh37	CD034471	F5	D		c.(583-588)AAAGGGfs		coagulation factor V precursor	Drotrecogin alfa(DB00055)																																			SO:0001630	splice_region_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529792_169529793insT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.586+1->A	1.37:g.169529798_169529798dupT						F5_uc010plr.1_RNA	p.K195fs	NM_000130	NP_000121	P12259	FA5_HUMAN			4	730_731	-	all_hematologic(923;0.208)		195_196			F5/8 type A 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Frame_Shift_Ins	INS	ENST00000367797.3	37	c.585_586insA	CCDS1281.1																																																																																				0.446	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	Frame_Shift_Ins	11	55	NA	NA	NA	NA	NA	11	55	---	---	---	---
FAM21C	253725	broad.mit.edu	37	10	46250511	46250513	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:46250511_46250513delTGA	ENST00000336378.4	+	15	1486_1488	c.1368_1370delTGA	c.(1366-1371)ggtgat>ggt	p.D461del	FAM21C_ENST00000359860.4_In_Frame_Del_p.D405del|FAM21C_ENST00000537517.1_In_Frame_Del_p.D437del|FAM21C_ENST00000540872.1_In_Frame_Del_p.D461del|FAM21C_ENST00000374362.2_In_Frame_Del_p.D461del	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	461	Poly-Asp.				retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						atgatgatggtgatgatgatgac	0.507																																							uc001jcu.2		NA																	0				ovary(1)	1						c.(1366-1371)GGTGAT>GGT		hypothetical protein LOC253725																																				SO:0001651	inframe_deletion	253725							g.chr10:46250511_46250513delTGA		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1368_1370delTGA	10.37:g.46250520_46250522delTGA	ENSP00000337541:p.Asp461del					FAM21C_uc001jcs.1_In_Frame_Del_p.D406del|FAM21C_uc001jct.2_In_Frame_Del_p.D461del|FAM21C_uc010qfi.1_In_Frame_Del_p.D437del|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'Flank	p.D461del	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			15	1467_1469	+			461					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	In_Frame_Del	DEL	ENST00000336378.4	37	c.1368_1370delTGA																																																																																					0.507	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	22	NA	NA	NA	NA	NA	7	22	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102552609	102552616	+	Frame_Shift_Del	DEL	GTATTGAT	GTATTGAT	-	rs533377532		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	GTATTGAT	GTATTGAT	-	-	GTATTGAT	GTATTGAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:102552609_102552616delGTATTGAT	ENST00000216281.8	-	2	305_312	c.100_107delATCAATAC	c.(100-108)atcaatactfs	p.INT34fs	HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000334701.7_Frame_Shift_Del_p.INT156fs	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	34					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CGAGTAGAAAGTATTGATGATCAATGAC	0.438																																							uc001yku.3		NA																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(100-108)ATCAATACTfs		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)																																			SO:0001589	frameshift_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552609_102552616delGTATTGAT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.100_107delATCAATAC	14.37:g.102552609_102552616delGTATTGAT	ENSP00000216281:p.Ile34fs					HSP90AA1_uc001ykv.3_Frame_Shift_Del_p.I156fs|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Frame_Shift_Del_p.I23fs	p.I34fs	NM_005348	NP_005339	P07900	HS90A_HUMAN			2	290_297	-			34_36					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Frame_Shift_Del	DEL	ENST00000216281.8	37	c.100_107delATCAATAC	CCDS9967.1																																																																																				0.438	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		8	65	NA	NA	NA	NA	NA	8	65	---	---	---	---
GIPC1	10755	broad.mit.edu	37	19	14589262	14589262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:14589262delC	ENST00000393033.4	-	9	1237	c.968delG	c.(967-969)ggcfs	p.G323fs	GIPC1_ENST00000393029.3_Frame_Shift_Del_p.G226fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.G323fs|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.G323fs|GIPC1_ENST00000591349.1_Frame_Shift_Del_p.G226fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.G226fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	323					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCCAATGGCGCCCCAGACGTC	0.657																																					Pancreas(33;78 923 2910 41023 52850)	Pancreas(33;78 923 2910 41023 52850)	uc002myt.2		NA																	0					0						c.(967-969)GGCfs		regulator of G-protein signalling 19 interacting							29.0	28.0	29.0					19																	14589262		2203	4299	6502	SO:0001589	frameshift_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14589262delC	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.968delG	19.37:g.14589262delC	ENSP00000376753:p.Gly323fs					GIPC1_uc002myu.2_Frame_Shift_Del_p.G323fs|GIPC1_uc002myv.2_Frame_Shift_Del_p.G226fs|GIPC1_uc002myw.2_Frame_Shift_Del_p.G226fs|GIPC1_uc002myx.2_Frame_Shift_Del_p.G323fs|GIPC1_uc002myy.2_Frame_Shift_Del_p.G226fs	p.G323fs	NM_005716	NP_005707	O14908	GIPC1_HUMAN			9	1238	-			323					A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Del	DEL	ENST00000393033.4	37	c.968delG	CCDS12310.1																																																																																				0.657	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			3	6	NA	NA	NA	NA	NA	3	6	---	---	---	---
RPS4XP21	126235	broad.mit.edu	37	19	34583921	34583921	+	IGR	DEL	G	G	-	rs564263000		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:34583921delG								RN7SL150P (165391 upstream) : LSM14A (79508 downstream)																							TAGATCAGACGGAAACCCTCT	0.428																																							uc002nuz.2		NA																	0					NA						c.(241-243)CGTfs		full-length cDNA clone CS0DE007YF24 of Placenta of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr19:34583921delG																													19.37:g.34583921delG							p.R81fs							1	293	-									Frame_Shift_Del	DEL		37	c.241delC																																																																																				0	0.428									5	8	NA	NA	NA	NA	NA	5	8	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467519	164467519	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:164467519delG	ENST00000333129.3	-	3	1137	c.823delC	c.(823-825)ctgfs	p.L275fs	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	275	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTGAAGGCAGGTACGCTGAA	0.617																																							uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(823-825)CTGfs		fidgetin							37.0	41.0	40.0					2																	164467519		2012	4160	6172	SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467519delG	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.823delC	2.37:g.164467519delG	ENSP00000333836:p.Leu275fs						p.L275fs	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1134	-			275			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Del	DEL	ENST00000333129.3	37	c.823delC	CCDS2221.2																																																																																				0.617	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		12	42	NA	NA	NA	NA	NA	12	42	---	---	---	---
ABHD5	51099	broad.mit.edu	37	3	43732525	43732526	+	Frame_Shift_Del	DEL	GA	GA	-	rs138695912|rs387906336		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr3:43732525_43732526delGA	ENST00000458276.2	+	1	164_165	c.41_42delGA	c.(40-42)ggafs	p.G14fs	ANO10_ENST00000495772.1_Intron	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	14					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCCGACACCGGAGAGAGGTAAG	0.733																																							uc003cmx.2		NA																	0				ovary(1)	1						c.(40-42)GGAfs		abhydrolase domain containing 5																																				SO:0001589	frameshift_variant	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43732525_43732526delGA	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.41_42delGA	3.37:g.43732529_43732530delGA	ENSP00000390849:p.Gly14fs						p.G14fs	NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	1	151_152	+		Renal(3;0.0134)	14					B2R9K0|Q9Y369	Frame_Shift_Del	DEL	ENST00000458276.2	37	c.41_42delGA	CCDS2711.1																																																																																				0.733	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		8	25	NA	NA	NA	NA	NA	8	25	---	---	---	---
