#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	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
FASTK	10922	broad.mit.edu	37	7	150775682	150775682	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:150775682G>A	ENST00000297532.6	-	4	869	c.792C>T	c.(790-792)ttC>ttT	p.F264F	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.F237F|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Silent_p.F123F	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	264					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GAACCACCAGGAAGTGGGCAA	0.637																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(790-792)ttC>ttT		Fas-activated serine/threonine kinase							55.0	57.0	56.0					7																	150775682		2203	4300	6503	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775682G>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.792C>T	7.37:g.150775682G>A						FASTK_ENST00000353841.2_Silent_p.F123F|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Silent_p.F237F|FASTK_ENST00000489884.1_5'UTR	p.F264F	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	4	869	-			264					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.792C>T	CCDS5918.1																																																																																				0.637	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		12	36	0	0	0	1	0	12	36				
LPIN3	64900	broad.mit.edu	37	20	39985680	39985680	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:39985680C>T	ENST00000373257.3	+	15	1895	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTGGCCTCAGCGGCGCCTGAA	0.612																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e15-1		lipin 3							66.0	57.0	60.0					20																	39985680		2203	4300	6503	SO:0001630	splice_region_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39985680C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1804-1C>T	20.37:g.39985680C>T							p.R602_splice	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			15	1895	+		Myeloproliferative disorder(115;0.000739)	602			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Splice_Site	SNP	ENST00000373257.3	37	c.1803_splice	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435993	0.25813	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	T	0.80738	-1.41	4.69	2.71	0.32032	.	0.370565	0.28488	N	0.015180	T	0.67183	0.2866	L	0.43152	1.355	0.34737	D	0.730338	B;B	0.21147	0.052;0.017	B;B	0.18263	0.021;0.003	T	0.59606	-0.7423	9	.	.	.	-13.9751	3.0524	0.06173	0.2919:0.4563:0.1624:0.0894	.	603;602	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	W	602;235	ENSP00000362354:R602W	.	R	+	1	2	LPIN3	39419094	0.998000	0.40836	0.779000	0.31741	0.509000	0.34042	0.376000	0.20535	0.397000	0.25310	0.462000	0.41574	CGG		0.612	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	Missense_Mutation	12	71	0	0	0	1	0	12	71				
RALBP1	10928	broad.mit.edu	37	18	9517239	9517239	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr18:9517239G>A	ENST00000019317.4	+	3	864	c.641G>A	c.(640-642)cGt>cAt	p.R214H	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.R214H|RNU2-27P_ENST00000516185.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	214	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GCCGTTTTCCGTGAATGTATA	0.418																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(640-642)cGt>cAt		ralA binding protein 1							74.0	70.0	71.0					18																	9517239		2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9517239G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.641G>A	18.37:g.9517239G>A	ENSP00000019317:p.Arg214His					RALBP1_ENST00000383432.3_Missense_Mutation_p.R214H	p.R214H			Q15311	RBP1_HUMAN			3	864	+			214			Rho-GAP.		D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.641G>A	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149801	0.94645	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.20069	2.1;2.1	5.1	5.1	0.69264	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56306	-0.8001	10	0.66056	D	0.02	0.4667	18.8707	0.92313	0.0:0.0:1.0:0.0	.	214	Q15311	RBP1_HUMAN	H	214	ENSP00000019317:R214H;ENSP00000372924:R214H	ENSP00000019317:R214H	R	+	2	0	RALBP1	9507239	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.803000	0.99136	2.513000	0.84729	0.655000	0.94253	CGT		0.418	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		4	68	0	0	0	1	0	4	68				
PPT1	5538	broad.mit.edu	37	1	40536136	40536136	+	IGR	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:40536136C>T	ENST00000433473.3	-	0	2740				CAP1_ENST00000340450.3_Silent_p.D383D|CAP1_ENST00000372797.3_Silent_p.D384D|CAP1_ENST00000372802.1_Silent_p.D383D|CAP1_ENST00000372798.1_Silent_p.D383D|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372805.3_Silent_p.D384D|CAP1_ENST00000372792.2_Silent_p.D384D	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATTCGATGACGTGGTGGGCA	0.383																																						ENST00000372797.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(1150-1152)gaC>gaT		CAP, adenylate cyclase-associated protein 1 (yeast)							211.0	203.0	205.0					1																	40536136		1927	4147	6074	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40536136C>T	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40536136C>T						CAP1_ENST00000372792.2_Silent_p.D384D|CAP1_ENST00000372798.1_Silent_p.D383D|CAP1_ENST00000372802.1_Silent_p.D383D|CAP1_ENST00000340450.3_Silent_p.D383D|CAP1_ENST00000372805.3_Silent_p.D384D|CAP1_ENST00000479759.1_3'UTR	p.D384D	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		11	1713	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	384			C-CAP/cofactor C-like.		B4DY24|Q6FGQ4	Silent	SNP	ENST00000433473.3	37	c.1152C>T	CCDS447.1																																																																																				0.383	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		23	80	0	0	0	1	0	23	80				
ASPM	259266	broad.mit.edu	37	1	197070003	197070003	+	Missense_Mutation	SNP	A	A	G	rs199422179		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:197070003A>G	ENST00000367409.4	-	18	8634	c.8378T>C	c.(8377-8379)aTg>aCg	p.M2793T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2793					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCTTGAATCATAACACCTTC	0.393																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(8377-8379)aTg>aCg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							134.0	133.0	133.0					1																	197070003		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070003A>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8378T>C	1.37:g.197070003A>G	ENSP00000356379:p.Met2793Thr					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.M2793T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	8634	-			2793					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8378T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	5.782	0.328690	0.10956	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.54866	0.55	4.49	-7.78	0.01223	.	1.623000	0.02927	N	0.138680	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.09377	0.002;0.004	T	0.13202	-1.0518	10	0.15952	T	0.53	.	0.5029	0.00582	0.2206:0.2037:0.2832:0.2924	.	779;2793	E7EQ84;Q8IZT6	.;ASPM_HUMAN	T	2793;779	ENSP00000356379:M2793T	ENSP00000356376:M779T	M	-	2	0	ASPM	195336626	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.012000	0.12699	-1.687000	0.01437	0.379000	0.24179	ATG		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		53	124	0	0	0	1	0	53	124				
LRIG1	26018	broad.mit.edu	37	3	66501997	66501997	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:66501997G>A	ENST00000273261.3	-	3	875	c.351C>T	c.(349-351)gtC>gtT	p.V117V	LRIG1_ENST00000383703.3_Silent_p.V117V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	117					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGAGAGAGACGACATGTGATG	0.483																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(349-351)gtC>gtT		leucine-rich repeats and immunoglobulin-like domains 1							225.0	189.0	201.0					3																	66501997		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66501997G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.351C>T	3.37:g.66501997G>A						LRIG1_ENST00000273261.3_Silent_p.V117V	p.V117V			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	3	954	-		Lung NSC(201;0.0101)	117					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.351C>T	CCDS33783.1																																																																																				0.483	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		5	95	0	0	0	1	0	5	95				
IRS4	8471	broad.mit.edu	37	X	107976934	107976934	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:107976934G>T	ENST00000372129.2	-	1	2717	c.2641C>A	c.(2641-2643)Ccc>Acc	p.P881T	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	881					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCTTTGGGGGCTCATGATCT	0.443																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2641-2643)Ccc>Acc		insulin receptor substrate 4							169.0	176.0	174.0					X																	107976934		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976934G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2641C>A	X.37:g.107976934G>T	ENSP00000361202:p.Pro881Thr						p.P881T	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2717	-			881						Missense_Mutation	SNP	ENST00000372129.2	37	c.2641C>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.168574	0.01660	.	.	ENSG00000133124	ENST00000372129	T	0.32515	1.45	5.05	2.25	0.28309	.	0.683676	0.14530	N	0.313896	T	0.25269	0.0614	M	0.63428	1.95	0.09310	N	1	B	0.24823	0.112	B	0.21708	0.036	T	0.35822	-0.9773	10	0.08381	T	0.77	-5.4603	7.714	0.28694	0.2152:0.0:0.6675:0.1173	.	881	O14654	IRS4_HUMAN	T	881	ENSP00000361202:P881T	ENSP00000361202:P881T	P	-	1	0	IRS4	107863590	0.995000	0.38212	0.066000	0.19879	0.003000	0.03518	1.642000	0.37207	0.170000	0.19704	-1.231000	0.01572	CCC		0.443	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		117	184	1	0	1.34936e-44	1	1.46078e-44	117	184				
ZNF14	7561	broad.mit.edu	37	19	19822868	19822868	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:19822868C>T	ENST00000344099.3	-	4	1360	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTTTCGTGTTCTCGAAGGGAA	0.383																																						ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1222-1224)Gaa>Aaa		zinc finger protein 14							97.0	99.0	98.0					19																	19822868		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822868C>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1222G>A	19.37:g.19822868C>T	ENSP00000340514:p.Glu408Lys						p.E408K	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1360	-		Renal(1328;0.0474)	408					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1222G>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262878	0.01445	.	.	ENSG00000105708	ENST00000344099	T	0.08193	3.12	1.68	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.10685	0.025	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45338	-0.9268	9	0.05833	T	0.94	.	4.6108	0.12402	0.0:0.4564:0.0:0.5436	.	408	P17017	ZNF14_HUMAN	K	408	ENSP00000340514:E408K	ENSP00000340514:E408K	E	-	1	0	ZNF14	19683868	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.002000	0.12924	-0.420000	0.07427	0.467000	0.42956	GAA		0.383	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		5	241	0	0	0	1	0	5	241				
ASB16	92591	broad.mit.edu	37	17	42248325	42248325	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:42248325C>T	ENST00000293414.1	+	1	252	c.168C>T	c.(166-168)tgC>tgT	p.C56C		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	56					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCGTTCCTGCCGAGACCCAG	0.662																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(166-168)tgC>tgT		ankyrin repeat and SOCS box containing 16							27.0	25.0	25.0					17																	42248325		2203	4300	6503	SO:0001819	synonymous_variant	92591				intracellular signal transduction		protein binding	g.chr17:42248325C>T	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.168C>T	17.37:g.42248325C>T							p.C56C	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	252	+		Breast(137;0.00765)|Prostate(33;0.0313)	56					B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	c.168C>T	CCDS11478.1																																																																																				0.662	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			3	32	0	0	0	1	0	3	32				
CDH26	60437	broad.mit.edu	37	20	58563978	58563978	+	Missense_Mutation	SNP	G	G	A	rs148034325		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:58563978G>A	ENST00000244047.5	+	9	1354	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	CDH26_ENST00000348616.4_Missense_Mutation_p.R348H			Q8IXH8	CAD26_HUMAN	cadherin 26	348	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TATGAGACTCGCCCAGCGCAA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15719	0.0		0.0	False		,,,				2504	0.0					ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1042-1044)cGc>cAc		cadherin 26							50.0	55.0	53.0					20																	58563978		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58563978G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1043G>A	20.37:g.58563978G>A	ENSP00000244047:p.Arg348His					CDH26_ENST00000244047.5_Missense_Mutation_p.R348H	p.R348H	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1343	+	all_lung(29;0.00963)		348			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1043G>A		.	.	.	.	.	.	.	.	.	.	G	9.382	1.073240	0.20147	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.54279	0.58;0.58	5.41	-2.58	0.06228	.	1.251120	0.05082	N	0.483744	T	0.29817	0.0745	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.10337	-1.0634	10	0.37606	T	0.19	.	3.3637	0.07196	0.2284:0.1018:0.4734:0.1963	.	348	Q8IXH8-4	.	H	348	ENSP00000244047:R348H;ENSP00000339390:R348H	ENSP00000244047:R348H	R	+	2	0	CDH26	57997373	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.474000	0.06607	-0.729000	0.04875	-0.768000	0.03414	CGC		0.567	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		4	90	0	0	0	1	0	4	90				
GUF1	60558	broad.mit.edu	37	4	44682767	44682767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:44682767C>T	ENST00000281543.5	+	3	528	c.334C>T	c.(334-336)Cga>Tga	p.R112*	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						gcaagtggaacgagaaagagg	0.333																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(334-336)Cga>Tga		GUF1 GTPase homolog (S. cerevisiae)							65.0	66.0	66.0					4																	44682767		2197	4286	6483	SO:0001587	stop_gained	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44682767C>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.334C>T	4.37:g.44682767C>T	ENSP00000281543:p.Arg112*					GUF1_ENST00000506793.1_3'UTR	p.R112*	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			3	528	+			112						Nonsense_Mutation	SNP	ENST00000281543.5	37	c.334C>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	38	6.853175	0.97885	.	.	ENSG00000151806	ENST00000281543	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4266	17.6231	0.88087	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	ENSP00000281543:R112X	R	+	1	2	GUF1	44377524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.601000	0.67606	2.455000	0.83008	0.557000	0.71058	CGA		0.333	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		10	48	0	0	0	1	0	10	48				
PTPRK	5796	broad.mit.edu	37	6	128388788	128388788	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr6:128388788T>C	ENST00000368215.3	-	12	2032	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S	PTPRK_ENST00000368210.3_Missense_Mutation_p.N678S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Missense_Mutation_p.N678S|PTPRK_ENST00000368213.5_Missense_Mutation_p.N678S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.N678S|PTPRK_ENST00000368227.3_Missense_Mutation_p.N678S|PTPRK_ENST00000532331.1_Missense_Mutation_p.N678S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	678	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCAGGTAGGTTTCCCGGGGG	0.542																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2032-2034)aAc>aGc		protein tyrosine phosphatase, receptor type, K							111.0	108.0	109.0					6																	128388788		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128388788T>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2033A>G	6.37:g.128388788T>C	ENSP00000357198:p.Asn678Ser					PTPRK_ENST00000368207.3_Missense_Mutation_p.N678S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.N678S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Missense_Mutation_p.N678S|PTPRK_ENST00000368226.4_Missense_Mutation_p.N678S|PTPRK_ENST00000532331.1_Missense_Mutation_p.N678S|PTPRK_ENST00000368213.5_Missense_Mutation_p.N678S	p.N678S			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	12	2399	-			678			Fibronectin type-III 4.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2033A>G		.	.	.	.	.	.	.	.	.	.	T	0.014	-1.590717	0.00864	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.07688	3.19;3.17;3.18;3.19;3.18;3.19;3.17	5.93	5.93	0.95920	.	0.045508	0.85682	D	0.000000	T	0.01387	0.0045	N	0.04245	-0.25	0.43421	D	0.995574	B;B;B;B;B;B	0.22276	0.002;0.02;0.034;0.067;0.001;0.001	B;B;B;B;B;B	0.20955	0.006;0.013;0.028;0.032;0.001;0.003	T	0.31668	-0.9935	10	0.02654	T	1	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	678;678;678;535;678;678	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	S	678;678;678;678;678;678;678;535	ENSP00000357209:N678S;ENSP00000357210:N678S;ENSP00000432973:N678S;ENSP00000357196:N678S;ENSP00000357193:N678S;ENSP00000357198:N678S;ENSP00000357190:N678S	ENSP00000357190:N678S	N	-	2	0	PTPRK	128430481	0.987000	0.35691	0.871000	0.34182	0.075000	0.17131	1.527000	0.35975	2.271000	0.75665	0.533000	0.62120	AAC		0.542	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			4	92	0	0	0	1	0	4	92				
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs377546716		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATAACTAATCCCTTTTCTTCT	0.408																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			2	Substitution - coding silent(2)	p.R529R(2)	lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1585-1587)agG>agA		UDP glucuronosyltransferase 2 family, polypeptide B17							82.0	79.0	80.0					4																	69403349		2114	4002	6116	SO:0001819	synonymous_variant	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403349C>T	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1587G>A	4.37:g.69403349C>T							p.R529R	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			6	1629	-			529						Silent	SNP	ENST00000317746.2	37	c.1587G>A	CCDS3523.1																																																																																				0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		4	109	0	0	0	1	0	4	109				
WDR20	91833	broad.mit.edu	37	14	102675621	102675621	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr14:102675621G>A	ENST00000342702.3	+	3	1145	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	WDR20_ENST00000454394.2_Missense_Mutation_p.V403M|WDR20_ENST00000335263.5_Missense_Mutation_p.V372M|WDR20_ENST00000545563.1_Missense_Mutation_p.V199M|WDR20_ENST00000499851.2_Missense_Mutation_p.V115M|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.V311M|WDR20_ENST00000556511.2_Missense_Mutation_p.V311M|WDR20_ENST00000424963.2_Missense_Mutation_p.V248M|WDR20_ENST00000322340.5_Intron	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	372										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GTTTGGTTCCGTGGGCCAGGA	0.498											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1114-1116)Gtg>Atg		WD repeat domain 20							91.0	80.0	84.0					14																	102675621		2203	4300	6503	SO:0001583	missense	91833							g.chr14:102675621G>A	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1114G>A	14.37:g.102675621G>A	ENSP00000341037:p.Val372Met		OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1368	WDR20_ENST00000454394.2_Missense_Mutation_p.V403M|WDR20_ENST00000424963.2_Missense_Mutation_p.V248M|WDR20_ENST00000499851.2_Missense_Mutation_p.V115M|WDR20_ENST00000342702.3_Missense_Mutation_p.V372M|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.V199M|WDR20_ENST00000556807.1_Missense_Mutation_p.V311M|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Missense_Mutation_p.V311M	p.V372M	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	1194	+			372					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.1114G>A	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.006885|4.006885	0.74932|0.74932	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	.|T;T;T;T;T;T;T	.|0.53206	.|0.63;2.21;0.63;2.21;3.19;0.63;0.63	5.56|5.56	5.56|5.56	0.83823|0.83823	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74390|0.74390	0.3710|0.3710	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0;0.998;1.0	.|D;D;P;D;D;D;D	.|0.77004	.|0.975;0.948;0.884;0.989;0.989;0.981;0.975	T|T	0.77757|0.77757	-0.2468|-0.2468	5|10	.|0.59425	.|D	.|0.04	.|.	19.5351|19.5351	0.95247|0.95247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|403;384;311;372;311;248;372	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	H|M	302|372;311;248;372;311;115;403;302;199	.|ENSP00000335434:V372M;ENSP00000395793:V248M;ENSP00000341037:V372M;ENSP00000450636:V311M;ENSP00000443641:V115M;ENSP00000406084:V403M;ENSP00000437927:V199M	.|ENSP00000299135:V311M	R|V	+|+	2|1	0|0	WDR20|WDR20	101745374|101745374	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.908000|0.908000	0.53690|0.53690	9.467000|9.467000	0.97671|0.97671	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.498	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		35	88	0	0	0	1	0	35	88				
RB1	5925	broad.mit.edu	37	13	49027168	49027168	+	Nonsense_Mutation	SNP	C	C	T	rs121913305		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr13:49027168C>T	ENST00000267163.4	+	18	1873	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	579	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.R579*(5)|p.R579fs*29(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATCAAAGGACCGAGAAGGACC	0.338	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		31	Whole gene deletion(15)|Unknown(10)|Substitution - Nonsense(5)|Deletion - Frameshift(1)	p.0?(15)|p.?(10)|p.R579*(5)|p.R579fs*29(1)	bone(10)|eye(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM941206	RB1	M	rs121913305	c.(1735-1737)Cga>Tga		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						116.0	109.0	112.0					13																	49027168		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49027168C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1735C>T	13.37:g.49027168C>T	ENSP00000267163:p.Arg579*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R579*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	18	1873	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	579			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1735C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	6.925192	0.97940	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.75	1.75	0.24633	.	0.175786	0.37219	N	0.002199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	10.6871	0.45850	0.3888:0.4911:0.1201:0.0	.	.	.	.	X	558;579	.	ENSP00000267163:R579X	R	+	1	2	RB1	47925169	0.759000	0.28416	0.969000	0.41365	0.958000	0.62258	1.082000	0.30803	0.002000	0.14630	-0.181000	0.13052	CGA		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			26	51	0	0	0	1	0	26	51				
AHNAK	79026	broad.mit.edu	37	11	62291175	62291175	+	Missense_Mutation	SNP	G	G	T	rs368054244		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:62291175G>T	ENST00000378024.4	-	5	10988	c.10714C>A	c.(10714-10716)Ctg>Atg	p.L3572M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3572					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCCCTTTCAGATCCCCTTCA	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10714-10716)Ctg>Atg		AHNAK nucleoprotein		G	MET/LEU,	0,4404		0,0,2202	151.0	156.0	155.0		10714,	-2.4	0.0	11		155	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	15,	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,	3572/5891,	62291175	1,13001	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291175G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10714C>A	11.37:g.62291175G>T	ENSP00000367263:p.Leu3572Met					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3572M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10988	-		Melanoma(852;0.155)	3572					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10714C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	6.475	0.455834	0.12283	0.0	1.16E-4	ENSG00000124942	ENST00000378024	T	0.14516	2.5	4.27	-2.42	0.06542	.	1.423200	0.04693	N	0.414460	T	0.25568	0.0622	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.28170	-1.0052	10	0.33940	T	0.23	0.112	4.2758	0.10808	0.3095:0.0:0.3506:0.3399	.	3572	Q09666	AHNK_HUMAN	M	3572	ENSP00000367263:L3572M	ENSP00000367263:L3572M	L	-	1	2	AHNAK	62047751	0.000000	0.05858	0.000000	0.03702	0.975000	0.68041	-2.767000	0.00782	-0.539000	0.06273	0.453000	0.30009	CTG		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		94	259	1	0	7.49063e-41	1	8.0354e-41	94	259				
TFPT	29844	broad.mit.edu	37	19	54617896	54617896	+	Silent	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:54617896G>T	ENST00000391759.1	-	2	613	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	TFPT_ENST00000391758.1_Silent_p.R61R|PRPF31_ENST00000419967.1_5'Flank|TFPT_ENST00000391757.1_Silent_p.R70R|PRPF31_ENST00000321030.4_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	70					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGCCGCCGCCGACCCCGGGCT	0.647			T	TCF3	pre-B ALL																																	ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(208-210)Cgg>Agg		TCF3 (E2A) fusion partner (in childhood Leukemia)							58.0	69.0	65.0					19																	54617896		2203	4300	6503	SO:0001819	synonymous_variant	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54617896G>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.208C>A	19.37:g.54617896G>T						TFPT_ENST00000391757.1_Silent_p.R70R|TFPT_ENST00000391758.1_Silent_p.R61R	p.R70R	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN			2	613	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		70						Silent	SNP	ENST00000391759.1	37	c.208C>A	CCDS12878.1																																																																																				0.647	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		24	197	1	0	4.4004e-07	1	4.43801e-07	24	197				
BRINP3	339479	broad.mit.edu	37	1	190067582	190067582	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:190067582C>T	ENST00000367462.3	-	8	2098	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E521K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	623					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGTACTGTCTCAAAAAATGTC	0.448																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1867-1869)Gag>Aag									238.0	250.0	246.0					1																	190067582		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067582C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1867G>A	1.37:g.190067582C>T	ENSP00000356432:p.Glu623Lys					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E521K	p.E623K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	2098	-	Prostate(682;0.198)		623					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1867G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165816	0.78339	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25579	2.03;1.79	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.73962	2.25	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.54268	-0.8319	10	0.87932	D	0	.	17.3319	0.87267	0.0:1.0:0.0:0.0	.	521;623	B7Z260;Q76B58	.;FAM5C_HUMAN	K	623;521	ENSP00000356432:E623K;ENSP00000438022:E521K	ENSP00000356432:E623K	E	-	1	0	FAM5C	188334205	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.734000	0.84928	2.692000	0.91855	0.650000	0.86243	GAG		0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		92	247	0	0	0	1	0	92	247				
EPHA4	2043	broad.mit.edu	37	2	222294821	222294821	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:222294821G>A	ENST00000281821.2	-	15	2588	c.2547C>T	c.(2545-2547)tgC>tgT	p.C849C	EPHA4_ENST00000409938.1_Silent_p.C849C|EPHA4_ENST00000409854.1_Silent_p.C849C|EPHA4_ENST00000392071.4_Silent_p.C798C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	849	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCGCAATGGGGCAGTCCATTG	0.512																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2545-2547)tgC>tgT		EPH receptor A4							119.0	110.0	113.0					2																	222294821		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294821G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2547C>T	2.37:g.222294821G>A						EPHA4_ENST00000409854.1_Silent_p.C849C|EPHA4_ENST00000392071.4_Silent_p.C798C|EPHA4_ENST00000409938.1_Silent_p.C849C	p.C849C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2588	-		Renal(207;0.0183)	849			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.2547C>T	CCDS2447.1																																																																																				0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			4	109	0	0	0	1	0	4	109				
CTC-260E6.6	0	broad.mit.edu	37	19	20369149	20369149	+	RNA	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:20369149G>A	ENST00000593655.1	-	0	199																											ttcctaactcgctagggtaca	0.448																																						ENST00000593655.1																			0																																																			0							g.chr19:20369149G>A																													19.37:g.20369149G>A														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.448	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			26	57	0	0	0	1	0	26	57				
IGHV1-18	28468	broad.mit.edu	37	14	106641900	106641900	+	RNA	SNP	C	C	A	rs182728445		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr14:106641900C>A	ENST00000390605.2	-	0	105									immunoglobulin heavy variable 1-18																		GGTGAAGTCTCACATGACTGG	0.587																																						ENST00000390605.2																			0																				76.0	74.0	75.0					14																	106641900		1931	4133	6064			28468							g.chr14:106641900C>A	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641900C>A														0	105	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.587	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		45	76	1	0	4.44401e-20	1	4.64065e-20	45	76				
CBFA2T2	9139	broad.mit.edu	37	20	32211032	32211032	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:32211032G>A	ENST00000346541.3	+	6	1186	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CBFA2T2_ENST00000344201.3_Missense_Mutation_p.A188T|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.A227T|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.A217T|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.A188T|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.A188T|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.A208T|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.A188T	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	217					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CACAAGCATTGCATCGCCTGC	0.597																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(649-651)Gca>Aca		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							136.0	118.0	124.0					20																	32211032		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32211032G>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.649G>A	20.37:g.32211032G>A	ENSP00000262653:p.Ala217Thr					CBFA2T2_ENST00000397800.1_Missense_Mutation_p.A188T|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.A188T|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.A227T|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.A208T|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.A217T|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.A188T	p.A217T	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			6	1186	+			217					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.649G>A	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	3.284	-0.146329	0.06627	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.02;1.6	5.7	3.38	0.38709	.	0.171430	0.53938	D	0.000045	T	0.12178	0.0296	N	0.02247	-0.625	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.21245	-1.0251	10	0.05436	T	0.98	-17.448	2.8673	0.05605	0.1131:0.1431:0.4517:0.292	.	217;208	O43439;F8W6D7	MTG8R_HUMAN;.	T	217;208;188;217;188;188;227	ENSP00000364428:A217T;ENSP00000345810:A208T;ENSP00000262653:A217T;ENSP00000380902:A188T;ENSP00000352622:A227T	ENSP00000345810:A208T	A	+	1	0	CBFA2T2	31674693	0.092000	0.21681	0.297000	0.24988	0.259000	0.26198	0.496000	0.22499	1.525000	0.49052	0.650000	0.86243	GCA		0.597	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		21	130	0	0	0	1	0	21	130				
IRF8	3394	broad.mit.edu	37	16	85952173	85952173	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:85952173G>A	ENST00000268638.5	+	7	1174	c.752G>A	c.(751-753)cGc>cAc	p.R251H	IRF8_ENST00000562492.1_Missense_Mutation_p.R47H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	251					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGCTGGTGCGCTTCCCGCCG	0.736																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(751-753)cGc>cAc		interferon regulatory factor 8							15.0	20.0	18.0					16																	85952173		2171	4259	6430	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952173G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.752G>A	16.37:g.85952173G>A	ENSP00000268638:p.Arg251His					IRF8_ENST00000562492.1_Missense_Mutation_p.R47H	p.R251H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			7	1174	+		Prostate(104;0.0771)	251					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.752G>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350539	0.24512	.	.	ENSG00000140968	ENST00000268638	D	0.95069	-3.6	5.1	3.15	0.36227	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.564923	0.19931	N	0.102848	D	0.90985	0.7165	L	0.53249	1.67	0.35957	D	0.834301	B	0.10296	0.003	B	0.11329	0.006	D	0.86300	0.1679	10	0.15499	T	0.54	-10.4153	11.5512	0.50721	0.1454:0.0:0.8546:0.0	.	251	Q02556	IRF8_HUMAN	H	251	ENSP00000268638:R251H	ENSP00000268638:R251H	R	+	2	0	IRF8	84509674	0.781000	0.28676	0.992000	0.48379	0.821000	0.46438	2.276000	0.43408	0.672000	0.31204	-0.133000	0.14855	CGC		0.736	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		24	40	0	0	0	1	0	24	40				
TNPO1	3842	broad.mit.edu	37	5	72201220	72201220	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:72201220G>A	ENST00000337273.5	+	24	3106	c.2680G>A	c.(2680-2682)Gct>Act	p.A894T	TNPO1_ENST00000506351.2_Missense_Mutation_p.A886T|TNPO1_ENST00000454282.1_Missense_Mutation_p.A844T|TNPO1_ENST00000523768.1_Missense_Mutation_p.A844T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	894					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCGTCTTGCAGCTTTTTATGG	0.358																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(2680-2682)Gct>Act		transportin 1							89.0	93.0	91.0					5																	72201220		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72201220G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2680G>A	5.37:g.72201220G>A	ENSP00000336712:p.Ala894Thr					TNPO1_ENST00000523768.1_Missense_Mutation_p.A844T|TNPO1_ENST00000506351.2_Missense_Mutation_p.A886T|TNPO1_ENST00000454282.1_Missense_Mutation_p.A844T	p.A894T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	24	3106	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	894					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.2680G>A	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179600	0.38511	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.52	5.52	0.82312	Armadillo-like helical (1);	0.048005	0.85682	D	0.000000	T	0.29914	0.0748	L	0.33189	0.99	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.11518	-1.0584	10	0.11485	T	0.65	-13.9972	19.5112	0.95142	0.0:0.0:1.0:0.0	.	844;894	Q92973-3;Q92973	.;TNPO1_HUMAN	T	894;844;844;886	ENSP00000336712:A894T;ENSP00000398524:A844T;ENSP00000428899:A844T;ENSP00000425118:A886T	ENSP00000336712:A894T	A	+	1	0	TNPO1	72236976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.963000	0.63694	2.632000	0.89209	0.644000	0.83932	GCT		0.358	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		38	91	0	0	0	1	0	38	91				
ATN1	1822	broad.mit.edu	37	12	7046325	7046325	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:7046325C>T	ENST00000356654.4	+	5	2132	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F	ATN1_ENST00000396684.2_Missense_Mutation_p.S632F	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	632					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AAAACGGCCTCCCCACCTGGG	0.657																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1894-1896)tCc>tTc		atrophin 1							38.0	44.0	42.0					12																	7046325		2202	4300	6502	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046325C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1895C>T	12.37:g.7046325C>T	ENSP00000349076:p.Ser632Phe					ATN1_ENST00000396684.2_Missense_Mutation_p.S632F	p.S632F	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	2132	+			632					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1895C>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.449622	0.43531	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.74947	-0.89;-0.89;-0.89	3.6	3.6	0.41247	.	0.000000	0.32444	U	0.006083	T	0.78735	0.4330	L	0.46157	1.445	0.45762	D	0.998656	D	0.71674	0.998	D	0.68621	0.959	T	0.73754	-0.3883	10	0.09338	T	0.73	.	15.8253	0.78698	0.0:1.0:0.0:0.0	.	632	P54259	ATN1_HUMAN	F	632;632;632;217	ENSP00000349076:S632F;ENSP00000379915:S632F;ENSP00000441744:S632F	ENSP00000229279:S217F	S	+	2	0	ATN1	6916586	0.414000	0.25408	0.990000	0.47175	0.041000	0.13682	3.827000	0.55745	2.029000	0.59856	0.586000	0.80456	TCC		0.657	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		21	59	0	0	0	1	0	21	59				
LAMB4	22798	broad.mit.edu	37	7	107674717	107674717	+	Missense_Mutation	SNP	C	C	G	rs573359256		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:107674717C>G	ENST00000388781.3	-	31	4837	c.4754G>C	c.(4753-4755)cGg>cCg	p.R1585P	LAMB4_ENST00000205386.4_Missense_Mutation_p.R1585P|LAMB4_ENST00000388780.3_Missense_Mutation_p.R1585P|LAMB4_ENST00000483484.1_5'UTR|AC005048.1_ENST00000401266.1_RNA	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1585	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAGTTTGCCCGTCCTTGAGT	0.338																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4753-4755)cGg>cCg		laminin, beta 4							293.0	275.0	281.0					7																	107674717		2201	4300	6501	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107674717C>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4754G>C	7.37:g.107674717C>G	ENSP00000373433:p.Arg1585Pro					LAMB4_ENST00000388780.3_Missense_Mutation_p.R1585P|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1585P	p.R1585P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			31	4837	-			1585			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4754G>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	3.686	-0.064549	0.07273	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.78481	1.45;1.45;-1.18;1.47	5.3	-8.12	0.01078	.	0.916905	0.09037	N	0.857795	T	0.56615	0.1997	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.003	B;B	0.16289	0.015;0.002	T	0.38585	-0.9654	10	0.34782	T	0.22	.	4.3951	0.11358	0.1014:0.1417:0.1711:0.5858	.	1585;1585	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	P	1585;1585;611;1585	ENSP00000205386:R1585P;ENSP00000373433:R1585P;ENSP00000416562:R611P;ENSP00000373432:R1585P	ENSP00000205386:R1585P	R	-	2	0	LAMB4	107461953	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.081000	0.03403	-1.611000	0.01581	-0.140000	0.14226	CGG		0.338	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		45	137	0	0	0	1	0	45	137				
SHKBP1	92799	broad.mit.edu	37	19	41082889	41082889	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:41082889G>C	ENST00000291842.5	+	1	133	c.84G>C	c.(82-84)aaG>aaC	p.K28N	SHKBP1_ENST00000600733.1_Missense_Mutation_p.K28N	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	28	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGAGGCAAGAGGTGAGTGT	0.677																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(82-84)aaG>aaC		SH3KBP1 binding protein 1							9.0	11.0	11.0					19																	41082889		2191	4277	6468	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41082889G>C	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.84G>C	19.37:g.41082889G>C	ENSP00000291842:p.Lys28Asn					SHKBP1_ENST00000600733.1_Missense_Mutation_p.K28N	p.K28N	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		1	133	+			28			BTB.		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.84G>C	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060893	0.76074	.	.	ENSG00000160410	ENST00000291842	T	0.44083	0.93	4.49	-0.161	0.13371	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.69248	2.105	0.50313	D	0.999865	P;P;D	0.76494	0.481;0.954;0.999	B;P;D	0.81914	0.138;0.812;0.995	T	0.51220	-0.8733	10	0.49607	T	0.09	-2.0022	7.8364	0.29371	0.376:0.0:0.624:0.0	.	28;28;28	Q8TBC3-2;B2R6W9;Q8TBC3	.;.;SHKB1_HUMAN	N	28	ENSP00000291842:K28N	ENSP00000291842:K28N	K	+	3	2	SHKBP1	45774729	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	1.112000	0.31172	0.127000	0.18452	0.549000	0.68633	AAG		0.677	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	7	0	0	0	1	0	4	7				
VKORC1	79001	broad.mit.edu	37	16	31105632	31105632	+	Intron	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:31105632C>T	ENST00000394975.2	-	1	401				VKORC1_ENST00000394971.3_Missense_Mutation_p.R64K|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000300851.6_Intron|RP11-196G11.1_ENST00000529564.1_Intron	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1						blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	ACCGTTATTCCTTGGCATCCA	0.587																																						ENST00000394971.3																			0				lung(3)|urinary_tract(1)	4						c.(190-192)aGg>aAg		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						280.0	251.0	260.0					16																	31105632		876	1991	2867	SO:0001627	intron_variant	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31105632C>T		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.173+245G>A	16.37:g.31105632C>T						VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000498155.1_Intron|RP11-196G11.1_ENST00000529564.1_Intron	p.R64K			Q9BQB6	VKOR1_HUMAN			1	238	-			0					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.191G>A	CCDS10703.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670572	0.29693	.	.	ENSG00000167397	ENST00000394971	.	.	.	3.5	0.245	0.15512	.	.	.	.	.	T	0.37433	0.1003	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.38585	-0.9654	5	0.87932	D	0	.	4.159	0.10275	0.4062:0.4779:0.0:0.116	.	.	.	.	K	64	.	ENSP00000378422:R64K	R	-	2	0	VKORC1	31013133	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-0.056000	0.11787	0.092000	0.17331	-0.310000	0.09108	AGG		0.587	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		83	174	0	0	0	1	0	83	174				
PKHD1	5314	broad.mit.edu	37	6	51889462	51889462	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr6:51889462C>T	ENST00000371117.3	-	32	5421	c.5146G>A	c.(5146-5148)Gtc>Atc	p.V1716I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1716I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1716	IPT/TIG 12; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGCCTCTGACGTGGTACTCC	0.522																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5146-5148)Gtc>Atc		polycystic kidney and hepatic disease 1 (autosomal recessive)							80.0	77.0	78.0					6																	51889462		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889462C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5146G>A	6.37:g.51889462C>T	ENSP00000360158:p.Val1716Ile					PKHD1_ENST00000340994.4_Missense_Mutation_p.V1716I	p.V1716I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	5421	-	Lung NSC(77;0.0605)		1716			IPT/TIG 12; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5146G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	5.971	0.363119	0.11296	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91295	-2.66;-2.82	5.64	2.93	0.34026	.	0.461082	0.21803	N	0.068899	T	0.77598	0.4154	L	0.52364	1.645	0.09310	N	1	B;B	0.23735	0.09;0.079	B;B	0.23716	0.048;0.012	T	0.69529	-0.5121	10	0.51188	T	0.08	.	8.6024	0.33754	0.0:0.7053:0.0:0.2946	.	1716;1716	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1716	ENSP00000360158:V1716I;ENSP00000341097:V1716I	ENSP00000341097:V1716I	V	-	1	0	PKHD1	51997421	0.086000	0.21541	0.017000	0.16124	0.014000	0.08584	0.480000	0.22244	0.335000	0.23614	0.650000	0.86243	GTC		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		26	74	0	0	0	1	0	26	74				
PIGX	54965	broad.mit.edu	37	3	196454932	196454932	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:196454932C>T	ENST00000421265.1	+	4	387	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	PIGX_ENST00000541663.1_Missense_Mutation_p.H45Y|PIGX_ENST00000314118.4_Missense_Mutation_p.H112Y			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	153					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CTGCCGCTATCATCGGCCGCA	0.453																																						ENST00000314118.4																			0				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11						c.(334-336)Cat>Tat		phosphatidylinositol glycan anchor biosynthesis, class X							143.0	131.0	135.0					3																	196454932		2203	4300	6503	SO:0001583	missense	54965				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr3:196454932C>T	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.334C>T	3.37:g.196454932C>T	ENSP00000416446:p.His112Tyr					PIGX_ENST00000541663.1_Missense_Mutation_p.H45Y|PIGX_ENST00000421265.1_Missense_Mutation_p.H112Y	p.H112Y	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)	4	616	+	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		153					Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37	c.334C>T		.	.	.	.	.	.	.	.	.	.	C	23.8	4.460542	0.84317	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000541663;ENST00000451319	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.71036	2.16	0.49915	D	0.999839	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.45056	-0.9287	10	0.09590	T	0.72	-17.4448	16.2122	0.82168	0.0:1.0:0.0:0.0	.	153;153	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	Y	112;153;112;153;112;45;112	ENSP00000409073:H112Y;ENSP00000376192:H153Y;ENSP00000317301:H112Y;ENSP00000296333:H153Y;ENSP00000416446:H112Y;ENSP00000443269:H45Y;ENSP00000390804:H112Y	ENSP00000296333:H153Y	H	+	1	0	PIGX	197939329	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.354000	0.59417	2.546000	0.85860	0.655000	0.94253	CAT		0.453	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861		32	181	0	0	0	1	0	32	181				
CNTNAP1	8506	broad.mit.edu	37	17	40839806	40839806	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:40839806C>T	ENST00000264638.4	+	8	1330	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	371					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.F371F(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTCACAACTTCGTTCAAGTGC	0.607																																						ENST00000264638.4																			1	Substitution - coding silent(1)	p.F371F(1)	large_intestine(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1111-1113)ttC>ttT		contactin associated protein 1							118.0	105.0	110.0					17																	40839806		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839806C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1113C>T	17.37:g.40839806C>T						CTD-3193K9.3_ENST00000592440.1_RNA	p.F371F	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1330	+		Breast(137;0.000143)	371						Silent	SNP	ENST00000264638.4	37	c.1113C>T	CCDS11436.1																																																																																				0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		25	77	0	0	0	1	0	25	77				
CELSR2	1952	broad.mit.edu	37	1	109794501	109794501	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:109794501C>T	ENST00000271332.3	+	1	1861	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	600	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCGTGACTGTCCTGGATGTCA	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1798-1800)gtC>gtT		cadherin, EGF LAG seven-pass G-type receptor 2							138.0	118.0	125.0					1																	109794501		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794501C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1800C>T	1.37:g.109794501C>T							p.V600V	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1861	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	600			Cadherin 4.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1800C>T	CCDS796.1																																																																																				0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		18	65	0	0	0	1	0	18	65				
TIFA	92610	broad.mit.edu	37	4	113199441	113199441	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:113199441G>A	ENST00000361717.3	-	2	413	c.132C>T	c.(130-132)agC>agT	p.S44S	TIFA_ENST00000500655.2_Silent_p.S44S	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	44					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCACCACTTCGCTGGAAGGGA	0.408																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(130-132)agC>agT		TRAF-interacting protein with forkhead-associated domain							82.0	92.0	89.0					4																	113199441		2202	4300	6502	SO:0001819	synonymous_variant	92610						protein binding	g.chr4:113199441G>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.132C>T	4.37:g.113199441G>A						TIFA_ENST00000500655.2_Silent_p.S44S	p.S44S	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	413	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	44						Silent	SNP	ENST00000361717.3	37	c.132C>T	CCDS34051.1																																																																																				0.408	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		80	235	0	0	0	1	0	80	235				
AUTS2	26053	broad.mit.edu	37	7	70228014	70228014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:70228014C>T	ENST00000342771.4	+	7	1222	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q301*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	301										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTGCCCTCAGGTCGCACA	0.597																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(901-903)Cag>Tag		autism susceptibility candidate 2							77.0	79.0	78.0					7																	70228014		2203	4300	6503	SO:0001587	stop_gained	26053							g.chr7:70228014C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.901C>T	7.37:g.70228014C>T	ENSP00000344087:p.Gln301*					AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q301*	p.Q301*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1222	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	301					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	ENST00000342771.4	37	c.901C>T	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.758453|7.758453	0.98474|0.98474	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000406775;ENST00000342771|ENST00000416482	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.322315|.	0.27976|.	N|.	0.017090|.	.|T	.|0.73713	.|0.3622	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72228	.|-0.4354	.|4	.|.	.|.	.|.	-16.3324|-16.3324	17.0949|17.0949	0.86632|0.86632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	301|81	.|.	.|.	Q|S	+|+	1|2	0|0	AUTS2|AUTS2	69865950|69865950	0.999000|0.999000	0.42202|0.42202	0.995000|0.995000	0.50966|0.50966	0.903000|0.903000	0.53119|0.53119	5.058000|5.058000	0.64300|0.64300	2.561000|2.561000	0.86390|0.86390	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.597	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			33	65	0	0	0	1	0	33	65				
PITPNM2	57605	broad.mit.edu	37	12	123480156	123480156	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:123480156C>T	ENST00000542749.1	-	12	1897	c.1834G>A	c.(1834-1836)Ggt>Agt	p.G612S	PITPNM2_ENST00000320201.4_Missense_Mutation_p.G612S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.G333S|PITPNM2_ENST00000280562.5_Missense_Mutation_p.G612S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	612	Gly-rich.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ccgccaccaccGCAGCAGTGT	0.677																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1834-1836)Ggt>Agt		phosphatidylinositol transfer protein, membrane-associated 2							29.0	20.0	23.0					12																	123480156		2202	4294	6496	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123480156C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1834G>A	12.37:g.123480156C>T	ENSP00000437611:p.Gly612Ser					PITPNM2_ENST00000320201.4_Missense_Mutation_p.G612S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.G333S|PITPNM2_ENST00000542749.1_Missense_Mutation_p.G612S	p.G612S			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	13	2039	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		612			Gly-rich.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1834G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588450	0.13812	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.40756	1.35;1.35;1.02;1.35	3.66	-2.16	0.07080	.	.	.	.	.	T	0.24812	0.0602	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.34825	-0.9813	9	0.08599	T	0.76	-2.074	9.8709	0.41172	0.0:0.4151:0.0:0.5849	.	612;612	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	S	612;612;333;612	ENSP00000280562:G612S;ENSP00000322218:G612S;ENSP00000376223:G333S;ENSP00000437611:G612S	ENSP00000280562:G612S	G	-	1	0	PITPNM2	122046109	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.514000	0.02254	-0.823000	0.04301	-1.069000	0.02264	GGT		0.677	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	28	0	0	0	1	0	4	28				
TENM3	55714	broad.mit.edu	37	4	183245190	183245190	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:183245190G>A	ENST00000511685.1	+	2	140	c.17G>A	c.(16-18)cGc>cAc	p.R6H	TENM3_ENST00000406950.2_Missense_Mutation_p.R6H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	6	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTGAAAGAACGCAGGCCTTAC	0.522																																						ENST00000511685.1																			0											c.(16-18)cGc>cAc		teneurin transmembrane protein 3							74.0	75.0	75.0					4																	183245190		2030	4191	6221	SO:0001583	missense	55714							g.chr4:183245190G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.17G>A	4.37:g.183245190G>A	ENSP00000424226:p.Arg6His					TENM3_ENST00000406950.2_Missense_Mutation_p.R6H	p.R6H							2	140	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.17G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300523	0.60195	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;D;D	0.90133	1.27;-2.62;-2.62	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (1);	.	.	.	.	D	0.94466	0.8219	L	0.59436	1.845	0.39514	D	0.968404	D;D	0.89917	1.0;0.967	D;B	0.80764	0.994;0.382	D	0.93731	0.7041	9	0.46703	T	0.11	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	6;6	D6RGC5;Q9P273	.;TEN3_HUMAN	H	6	ENSP00000421320:R6H;ENSP00000424226:R6H;ENSP00000385276:R6H	ENSP00000385276:R6H	R	+	2	0	ODZ3	183482184	1.000000	0.71417	0.979000	0.43373	0.940000	0.58332	7.024000	0.76443	2.941000	0.99782	0.655000	0.94253	CGC		0.522	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			3	53	0	0	0	1	0	3	53				
PDCD7	10081	broad.mit.edu	37	15	65426077	65426077	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr15:65426077G>A	ENST00000204549.4	-	1	97	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	15	Pro-rich.				apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TGCGGGGGCGGTGGGCCTGGG	0.687																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(43-45)Ccg>Tcg		programmed cell death 7							4.0	6.0	5.0					15																	65426077		1927	3986	5913	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65426077G>A	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.43C>T	15.37:g.65426077G>A	ENSP00000204549:p.Pro15Ser						p.P15S	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			1	97	-			15			Pro-rich.		Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.43C>T	CCDS10201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.42|15.42	2.826853|2.826853	0.50739|0.50739	.|.	.|.	ENSG00000090470|ENSG00000090470	ENST00000380204|ENST00000204549	.|.	.|.	.|.	4.39|4.39	3.39|3.39	0.38822|0.38822	.|.	.|0.080109	.|0.49305	.|D	.|0.000152	.|T	.|0.30510	.|0.0767	N|N	0.14661|0.14661	0.345|0.345	0.32115|0.32115	N|N	0.588785|0.588785	.|B	.|0.25609	.|0.13	.|B	.|0.25987	.|0.065	.|T	.|0.45512	.|-0.9256	.|9	.|0.87932	.|D	.|0	.|-5.817	11.0098|11.0098	0.47657|0.47657	0.0:0.0:0.8131:0.1869|0.0:0.0:0.8131:0.1869	.|.	.|15	.|Q8N8D1	.|PDCD7_HUMAN	.|S	-1|15	.|.	.|ENSP00000204549:P15S	.|P	-|-	.|1	.|0	PDCD7|PDCD7	63213130|63213130	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	0.725000|0.725000	0.25970|0.25970	2.144000|2.144000	0.66660|0.66660	0.491000|0.491000	0.48974|0.48974	.|CCG		0.687	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	3	0	0	0	1	0	4	3				
ATN1	1822	broad.mit.edu	37	12	7046450	7046450	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:7046450C>G	ENST00000356654.4	+	5	2257	c.2020C>G	c.(2020-2022)Cga>Gga	p.R674G	ATN1_ENST00000396684.2_Missense_Mutation_p.R674G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	674					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ACCGGGCTATCGAGGAACCTC	0.711																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2020-2022)Cga>Gga		atrophin 1							5.0	6.0	6.0					12																	7046450		2023	4038	6061	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046450C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2020C>G	12.37:g.7046450C>G	ENSP00000349076:p.Arg674Gly					ATN1_ENST00000396684.2_Missense_Mutation_p.R674G	p.R674G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	2257	+			674					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2020C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	4.554	0.102831	0.08731	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.46819	0.86;0.86;0.86	3.52	1.66	0.24008	.	0.000000	0.29113	U	0.013111	T	0.48926	0.1527	L	0.36672	1.1	0.30152	N	0.802993	D	0.69078	0.997	P	0.61658	0.892	T	0.48399	-0.9039	10	0.27785	T	0.31	.	9.1736	0.37098	0.146:0.7691:0.0:0.0849	.	674	P54259	ATN1_HUMAN	G	674;674;674;259	ENSP00000349076:R674G;ENSP00000379915:R674G;ENSP00000441744:R674G	ENSP00000229279:R259G	R	+	1	2	ATN1	6916711	0.005000	0.15991	0.938000	0.37757	0.010000	0.07245	0.337000	0.19841	0.021000	0.15133	-3.430000	0.00037	CGA		0.711	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		5	13	0	0	0	1	0	5	13				
USP36	57602	broad.mit.edu	37	17	76823412	76823412	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:76823412G>A	ENST00000542802.3	-	6	1047	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	USP36_ENST00000312010.6_Missense_Mutation_p.R202C|USP36_ENST00000589424.1_Missense_Mutation_p.R202C|USP36_ENST00000590546.2_Missense_Mutation_p.R202C			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	202	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCCAAAGCGGAAGTGTCGG	0.567																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(604-606)Cgc>Tgc		ubiquitin specific peptidase 36							49.0	42.0	44.0					17																	76823412		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76823412G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.604C>T	17.37:g.76823412G>A	ENSP00000441214:p.Arg202Cys					USP36_ENST00000542802.2_Missense_Mutation_p.R202C|USP36_ENST00000590546.2_Missense_Mutation_p.R202C|USP36_ENST00000589424.1_Missense_Mutation_p.R202C	p.R202C	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		6	928	-			202					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.604C>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444210	0.96187	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.31769	1.48;1.48	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.87578	0.998;0.858	T	0.72766	-0.4194	10	0.87932	D	0	-34.8785	17.9924	0.89172	0.0:0.0:1.0:0.0	.	202;202	Q8IXW9;Q9P275-2	.;.	C	202	ENSP00000310590:R202C;ENSP00000441214:R202C	ENSP00000310590:R202C	R	-	1	0	USP36	74335007	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.784000	0.85713	2.538000	0.85594	0.650000	0.86243	CGC		0.567	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		4	20	0	0	0	1	0	4	20				
HCN1	348980	broad.mit.edu	37	5	45262772	45262772	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:45262772G>A	ENST00000303230.4	-	8	1981	c.1924C>T	c.(1924-1926)Cct>Tct	p.P642S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	642					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCATTTGAGGATAATTGATG	0.498																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1924-1926)Cct>Tct		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							193.0	175.0	181.0					5																	45262772		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262772G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1924C>T	5.37:g.45262772G>A	ENSP00000307342:p.Pro642Ser						p.P642S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	1981	-			642						Missense_Mutation	SNP	ENST00000303230.4	37	c.1924C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	3.067	-0.191984	0.06299	.	.	ENSG00000164588	ENST00000303230	T	0.71934	-0.61	5.91	5.03	0.67393	.	0.215451	0.32190	N	0.006453	T	0.37433	0.1003	N	0.00841	-1.15	0.32487	N	0.5407	B	0.10296	0.003	B	0.04013	0.001	T	0.37174	-0.9717	10	0.07482	T	0.82	.	14.4959	0.67685	0.0696:0.0:0.9304:0.0	.	642	O60741	HCN1_HUMAN	S	642	ENSP00000307342:P642S	ENSP00000307342:P642S	P	-	1	0	HCN1	45298529	.	.	0.940000	0.37924	0.048000	0.14542	.	.	2.793000	0.96121	0.655000	0.94253	CCT		0.498	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		39	131	0	0	0	1	0	39	131				
ADAM29	11086	broad.mit.edu	37	4	175898251	175898251	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:175898251C>A	ENST00000359240.3	+	5	2245	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.N525K|ADAM29_ENST00000445694.1_Missense_Mutation_p.N525K|ADAM29_ENST00000514159.1_Missense_Mutation_p.N525K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	525	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGAATTGAACACCTTAGGTG	0.413																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1573-1575)aaC>aaA		ADAM metallopeptidase domain 29							85.0	88.0	87.0					4																	175898251		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898251C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1575C>A	4.37:g.175898251C>A	ENSP00000352177:p.Asn525Lys					ADAM29_ENST00000404450.4_Missense_Mutation_p.N525K|ADAM29_ENST00000514159.1_Missense_Mutation_p.N525K|ADAM29_ENST00000445694.1_Missense_Mutation_p.N525K	p.N525K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2245	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	525			Cys-rich.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1575C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150789	0.37923	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	3.48	-1.32	0.09201	ADAM, cysteine-rich (2);	0.000000	0.39210	U	0.001436	T	0.66327	0.2778	H	0.99325	4.515	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59204	-0.7498	9	.	.	.	.	8.2475	0.31698	0.0:0.4876:0.0:0.5124	.	525	Q9UKF5	ADA29_HUMAN	K	525	ENSP00000352177:N525K;ENSP00000414544:N525K;ENSP00000384229:N525K;ENSP00000423517:N525K	.	N	+	3	2	ADAM29	176134826	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-1.532000	0.02217	-0.366000	0.08064	-0.148000	0.13756	AAC		0.413	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				33	135	1	0	1.06801e-11	1	1.09587e-11	33	135				
PATZ1	23598	broad.mit.edu	37	22	31740796	31740796	+	Nonsense_Mutation	SNP	G	G	A	rs536531580		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr22:31740796G>A	ENST00000266269.5	-	1	1422	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PATZ1_ENST00000405309.3_Nonsense_Mutation_p.R265*|PATZ1_ENST00000351933.4_Nonsense_Mutation_p.R265*|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Nonsense_Mutation_p.R265*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	265					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCCCGGCCTCGCTTGCCAGTC	0.657																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(793-795)Cga>Tga		POZ (BTB) and AT hook containing zinc finger 1							16.0	16.0	16.0					22																	31740796		2201	4293	6494	SO:0001587	stop_gained	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740796G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.793C>T	22.37:g.31740796G>A	ENSP00000266269:p.Arg265*					PATZ1_ENST00000215919.3_Nonsense_Mutation_p.R265*|PATZ1_ENST00000351933.4_Nonsense_Mutation_p.R265*|PATZ1_ENST00000405309.3_Nonsense_Mutation_p.R265*	p.R265*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1422	-			265					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Nonsense_Mutation	SNP	ENST00000266269.5	37	c.793C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	41	9.022733	0.99038	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	.	.	.	4.78	3.69	0.42338	.	0.284830	0.27122	N	0.020821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-2.5998	11.7427	0.51803	0.0:0.0:0.6497:0.3503	.	.	.	.	X	265	.	ENSP00000215919:R265X	R	-	1	2	PATZ1	30070796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.480000	0.35464	2.211000	0.71520	0.561000	0.74099	CGA		0.657	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		10	19	0	0	0	1	0	10	19				
FBXO24	26261	broad.mit.edu	37	7	100189426	100189426	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:100189426G>A	ENST00000241071.6	+	4	781	c.459G>A	c.(457-459)ggG>ggA	p.G153G	FBXO24_ENST00000427939.2_Silent_p.G191G|FBXO24_ENST00000468962.1_Silent_p.G141G|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Silent_p.G139G|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Silent_p.G139G|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	153					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTACGTGGGGACCCTCTTCT	0.597																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(457-459)ggG>ggA		F-box protein 24							96.0	87.0	90.0					7																	100189426		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189426G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.459G>A	7.37:g.100189426G>A						FBXO24_ENST00000468962.1_Silent_p.G141G|FBXO24_ENST00000465843.1_Silent_p.G139G|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.G191G|FBXO24_ENST00000360609.2_Silent_p.G139G	p.G153G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			4	781	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		153					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.459G>A	CCDS5698.1																																																																																				0.597	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			39	97	0	0	0	1	0	39	97				
SYNPO2	171024	broad.mit.edu	37	4	119952399	119952399	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:119952399C>T	ENST00000429713.2	+	4	2651	c.2469C>T	c.(2467-2469)aaC>aaT	p.N823N	SYNPO2_ENST00000434046.2_Silent_p.N823N|SYNPO2_ENST00000307142.4_Silent_p.N823N|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	823						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTACTTTGAACGTGGCTGGTC	0.532																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2467-2469)aaC>aaT		synaptopodin 2							65.0	66.0	66.0					4																	119952399		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952399C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2469C>T	4.37:g.119952399C>T						SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.N823N|SYNPO2_ENST00000434046.2_Silent_p.N823N	p.N823N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	2665	+			823					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.2469C>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.366045	0.00212	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.76	2.1	0.27182	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	-3.3683	11.4833	0.50339	0.0:0.6762:0.0:0.3238	.	.	.	.	C	775	.	.	R	+	1	0	SYNPO2	120171847	0.000000	0.05858	0.033000	0.17914	0.008000	0.06430	0.131000	0.15870	0.105000	0.17753	-0.797000	0.03246	CGT		0.532	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			13	81	0	0	0	1	0	13	81				
EIF4A3	9775	broad.mit.edu	37	17	78113871	78113871	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:78113871G>A	ENST00000269349.3	-	5	662	c.441C>T	c.(439-441)ggC>ggT	p.G147G		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGATGTCCTCGCCAACATTGG	0.542																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(439-441)ggC>ggT		eukaryotic translation initiation factor 4A3							94.0	76.0	82.0					17																	78113871		2203	4300	6503	SO:0001819	synonymous_variant	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78113871G>A	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.441C>T	17.37:g.78113871G>A							p.G147G	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		5	662	-	all_neural(118;0.117)		147			Helicase ATP-binding.		Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	c.441C>T	CCDS11767.1																																																																																				0.542	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		23	51	0	0	0	1	0	23	51				
CYP27C1	339761	broad.mit.edu	37	2	127953055	127953055	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:127953055G>A	ENST00000335247.7	-	5	705	c.575C>T	c.(574-576)aCt>aTt	p.T192I	CYP27C1_ENST00000409327.1_Missense_Mutation_p.T192I	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	192						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GAGGTACACAGTCCAAGACAA	0.537																																						ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.(574-576)aCt>aTt		cytochrome P450, family 27, subfamily C, polypeptide 1							86.0	73.0	77.0					2																	127953055		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127953055G>A	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.575C>T	2.37:g.127953055G>A	ENSP00000334128:p.Thr192Ile					CYP27C1_ENST00000409327.1_Missense_Mutation_p.T192I	p.T192I	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	5	705	-	Colorectal(110;0.1)		192					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.575C>T	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264531	0.23136	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.65549	-0.16;-0.16	4.43	3.56	0.40772	.	0.331851	0.27455	N	0.019284	T	0.56470	0.1987	N	0.21545	0.675	0.25102	N	0.99077	B	0.26318	0.146	B	0.41946	0.371	T	0.55679	-0.8103	10	0.38643	T	0.18	0.0323	12.8472	0.57837	0.0802:0.0:0.9198:0.0	.	192	Q4G0S4	C27C1_HUMAN	I	192	ENSP00000334128:T192I;ENSP00000387198:T192I	ENSP00000334128:T192I	T	-	2	0	CYP27C1	127669525	0.999000	0.42202	0.617000	0.29091	0.032000	0.12392	3.014000	0.49590	0.997000	0.38969	-0.119000	0.15052	ACT		0.537	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		14	43	0	0	0	1	0	14	43				
CYTIP	9595	broad.mit.edu	37	2	158272257	158272257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:158272257G>A	ENST00000264192.3	-	8	1133	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	CYTIP_ENST00000540637.1_Nonsense_Mutation_p.R232*	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	338					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGTTGCTTTCGGACACTTCCC	0.488																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(1012-1014)Cga>Tga		cytohesin 1 interacting protein							102.0	95.0	97.0					2																	158272257		2203	4300	6503	SO:0001587	stop_gained	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272257G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.1012C>T	2.37:g.158272257G>A	ENSP00000264192:p.Arg338*					CYTIP_ENST00000540637.1_Nonsense_Mutation_p.R232*	p.R338*	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1133	-			338					B4DWH9|Q15630|Q8NE32	Nonsense_Mutation	SNP	ENST00000264192.3	37	c.1012C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983584	0.97173	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	.	.	.	6.17	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1058	11.2482	0.49008	0.066:0.0:0.8062:0.1278	.	.	.	.	X	338;232	.	ENSP00000264192:R338X	R	-	1	2	CYTIP	157980503	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.459000	0.53021	0.892000	0.36259	0.655000	0.94253	CGA		0.488	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	77	0	0	0	1	0	7	77				
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:1803564C>T	ENST00000260795.2	+	6	844	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	FGFR3_ENST00000340107.4_Missense_Mutation_p.R248C|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	248			R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma; constitutive dimerization and kinase activation). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:11529856, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:16841094, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCCCACAGAGCGCTCCCCGCA	0.741		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		243	Substitution - Missense(241)|Insertion - In frame(1)|Deletion - In frame(1)	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)	urinary_tract(168)|skin(70)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091	GRCh37	CM950469	FGFR3	M	rs121913482	c.(742-744)Cgc>Tgc		fibroblast growth factor receptor 3	Palifermin(DB00039)						13.0	15.0	14.0					4																	1803564		2180	4268	6448	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803564C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.742C>T	4.37:g.1803564C>T	ENSP00000260795:p.Arg248Cys					FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C	p.R248C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	998	+		Breast(71;0.212)|all_epithelial(65;0.241)	248		R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.742C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	16.88	3.244004	0.58995	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.83075	-1.68;-1.44;-1.44;-1.39;-1.44;-1.39;-1.37	3.93	3.0	0.34707	.	0.126462	0.53938	N	0.000041	D	0.93719	0.7993	H	0.97465	4.01	0.46499	A	0.999078	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.891;0.982;0.997;0.995;0.959;0.999	D	0.96515	0.9381	9	0.87932	D	0	.	13.5812	0.61905	0.236:0.764:0.0:0.0	.	211;248;248;248;248;248	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	248;248;248;248;248;248;68	ENSP00000420533:R248C;ENSP00000339824:R248C;ENSP00000414914:R248C;ENSP00000412903:R248C;ENSP00000260795:R248C;ENSP00000231803:R248C;ENSP00000427289:R68C	ENSP00000260795:R248C	R	+	1	0	FGFR3	1773362	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	2.239000	0.43079	1.898000	0.54952	0.430000	0.28490	CGC		0.741	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		6	34	0	0	0	1	0	6	34				
P4HB	5034	broad.mit.edu	37	17	79813069	79813069	+	Silent	SNP	G	G	A	rs141223466		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:79813069G>A	ENST00000331483.4	-	4	795	c.573C>T	c.(571-573)gaC>gaT	p.D191D	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.D147D|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	191					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGGAGAACACGTCACTGTTGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		20800	0.001		0.0	False		,,,				2504	0.0				Colon(49;444 983 1296 7887 42561)	ENST00000331483.4																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(571-573)gaC>gaT		prolyl 4-hydroxylase, beta polypeptide		G		0,4406		0,0,2203	263.0	226.0	238.0		573	-5.5	0.9	17	dbSNP_134	238	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	P4HB	NM_000918.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		191/509	79813069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79813069G>A	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.573C>T	17.37:g.79813069G>A						P4HB_ENST00000439918.2_Silent_p.D147D|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR	p.D191D	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		4	795	-	all_neural(118;0.0878)|Ovarian(332;0.12)		191					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.573C>T	CCDS11787.1																																																																																				0.537	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		108	254	0	0	0	1	0	108	254				
THNSL2	55258	broad.mit.edu	37	2	88478395	88478395	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:88478395C>T	ENST00000324166.5	+	4	2356	c.665C>T	c.(664-666)tCg>tTg	p.S222L	THNSL2_ENST00000449349.1_Missense_Mutation_p.S190L|THNSL2_ENST00000343544.4_Missense_Mutation_p.S222L|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000402102.1_Missense_Mutation_p.S222L|THNSL2_ENST00000377254.3_Missense_Mutation_p.S222L|THNSL2_ENST00000358591.2_Missense_Mutation_p.S222L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	222					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCTGAATTCGATCAACTGG	0.537																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(664-666)tCg>tTg		threonine synthase-like 2 (S. cerevisiae)							252.0	222.0	232.0					2																	88478395		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88478395C>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.665C>T	2.37:g.88478395C>T	ENSP00000327323:p.Ser222Leu					THNSL2_ENST00000402102.1_Missense_Mutation_p.S222L|THNSL2_ENST00000377254.3_Missense_Mutation_p.S222L|THNSL2_ENST00000449349.1_Missense_Mutation_p.S190L|THNSL2_ENST00000343544.4_Missense_Mutation_p.S222L|THNSL2_ENST00000358591.2_Missense_Mutation_p.S222L|THNSL2_ENST00000496844.1_3'UTR	p.S222L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			4	2356	+			222					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.665C>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	C	32	5.156347	0.94686	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000449349;ENST00000544063;ENST00000343544;ENST00000324166	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.32	5.32	0.75619	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	H	0.97682	4.055	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.984;0.977;0.987;0.962	T	0.77851	-0.2434	10	0.87932	D	0	.	18.3575	0.90362	0.0:1.0:0.0:0.0	.	64;222;190;222	A8K0C1;Q86YJ6;C9JU10;Q86YJ6-2	.;THNS2_HUMAN;.;.	L	222;222;222;190;64;222;222	ENSP00000351402:S222L;ENSP00000366464:S222L;ENSP00000384475:S222L;ENSP00000407553:S190L;ENSP00000339563:S222L;ENSP00000327323:S222L	ENSP00000327323:S222L	S	+	2	0	THNSL2	88259510	1.000000	0.71417	0.893000	0.35052	0.994000	0.84299	6.934000	0.75880	2.669000	0.90835	0.561000	0.74099	TCG		0.537	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		62	173	0	0	0	1	0	62	173				
IGSF3	3321	broad.mit.edu	37	1	117127584	117127584	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:117127584G>T	ENST00000369486.3	-	9	3296	c.2531C>A	c.(2530-2532)aCc>aAc	p.T844N	IGSF3_ENST00000318837.6_Missense_Mutation_p.T864N|IGSF3_ENST00000369483.1_Missense_Mutation_p.T864N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	844	Ig-like C2-type 7.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTTATGCTGGTGCGGTTGAG	0.612																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(2530-2532)aCc>aAc		immunoglobulin superfamily, member 3							49.0	47.0	48.0					1																	117127584		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117127584G>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2531C>A	1.37:g.117127584G>T	ENSP00000358498:p.Thr844Asn					IGSF3_ENST00000318837.6_Missense_Mutation_p.T864N|IGSF3_ENST00000369483.1_Missense_Mutation_p.T864N	p.T844N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	9	3296	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	844			Ig-like C2-type 7.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.2531C>A	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424882	0.43020	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02944	4.1;4.12;4.12	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.711004	0.13010	N	0.420923	T	0.06690	0.0171	M	0.65975	2.015	0.44956	D	0.997972	D;D;D	0.67145	0.994;0.996;0.995	P;P;P	0.62740	0.713;0.906;0.811	T	0.28650	-1.0037	10	0.38643	T	0.18	-38.6775	13.263	0.60117	0.0:0.0:1.0:0.0	.	864;844;864	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	N	844;864;864	ENSP00000358498:T844N;ENSP00000358495:T864N;ENSP00000321184:T864N	ENSP00000321184:T864N	T	-	2	0	IGSF3	116929107	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	4.873000	0.63057	2.490000	0.84030	0.655000	0.94253	ACC		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		14	47	1	0	3.27435e-08	1	3.33081e-08	14	47				
TMC5	79838	broad.mit.edu	37	16	19468240	19468240	+	Intron	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:19468240G>A	ENST00000396229.2	+	6	1797				TMC5_ENST00000564959.1_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.R71Q|TMC5_ENST00000561503.1_Intron	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGGTGCTGCGGTTTTCAACA	0.433																																						ENST00000219821.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(211-213)cGg>cAg		transmembrane channel-like 5							125.0	111.0	116.0					16																	19468240		2197	4300	6497	SO:0001627	intron_variant	79838					integral to membrane		g.chr16:19468240G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1049-3317G>A	16.37:g.19468240G>A						TMC5_ENST00000561503.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Intron	p.R71Q	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN			1	469	+			0					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.212G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	3.305	-0.142097	0.06669	.	.	ENSG00000103534	ENST00000219821	T	0.69806	-0.43	4.07	-6.68	0.01778	.	.	.	.	.	T	0.46889	0.1416	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.27088	-1.0084	9	0.25106	T	0.35	.	12.9466	0.58375	0.6449:0.0:0.3551:0.0	.	71;71	Q6UXY8-3;B3KUQ8	.;.	Q	71	ENSP00000219821:R71Q	ENSP00000219821:R71Q	R	+	2	0	TMC5	19375741	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.736000	0.01845	-1.601000	0.01601	-1.916000	0.00518	CGG		0.433	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		20	43	0	0	0	1	0	20	43				
FAT1	2195	broad.mit.edu	37	4	187560921	187560921	+	Silent	SNP	C	C	T	rs115460650	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:187560921C>T	ENST00000441802.2	-	4	3806	c.3597G>A	c.(3595-3597)acG>acA	p.T1199T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1199	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTTCCTTGACGTAGTTGTGA	0.333										HNSCC(5;0.00058)			C|||	15	0.00299521	0.0098	0.0	5008	,	,		19520	0.0		0.0	False		,,,				2504	0.002				Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3595-3597)acG>acA		FAT atypical cadherin 1		C		50,3674		0,50,1812	142.0	143.0	143.0		3597	-7.8	0.1	4	dbSNP_132	143	11,8197		0,11,4093	no	coding-synonymous	FAT1	NM_005245.3		0,61,5905	TT,TC,CC		0.134,1.3426,0.5112		1199/4589	187560921	61,11871	1862	4104	5966	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187560921C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3597G>A	4.37:g.187560921C>T		HNSCC(5;0.00058)					p.T1199T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			4	3806	-			1199			Cadherin 10.			Silent	SNP	ENST00000441802.2	37	c.3597G>A	CCDS47177.1																																																																																				0.333	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	204	0	0	0	1	0	11	204				
ANXA6	309	broad.mit.edu	37	5	150498944	150498944	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:150498944C>G	ENST00000354546.5	-	18	1582	c.1355G>C	c.(1354-1356)gGc>gCc	p.G452A	ANXA6_ENST00000521512.1_Missense_Mutation_p.G245A|ANXA6_ENST00000523714.1_Missense_Mutation_p.G420A|ANXA6_ENST00000377751.5_Missense_Mutation_p.G109A|ANXA6_ENST00000356496.5_Missense_Mutation_p.G452A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	452					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCTGTGCCGGCTCCCTG	0.547																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1354-1356)gGc>gCc		annexin A6							76.0	77.0	77.0					5																	150498944		1881	4096	5977	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150498944C>G	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1355G>C	5.37:g.150498944C>G	ENSP00000346550:p.Gly452Ala					ANXA6_ENST00000356496.5_Missense_Mutation_p.G452A|ANXA6_ENST00000521512.1_Missense_Mutation_p.G245A|ANXA6_ENST00000523714.1_Missense_Mutation_p.G420A|ANXA6_ENST00000377751.5_Missense_Mutation_p.G109A	p.G452A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1582	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	452					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1355G>C	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904552	0.92035	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14	5.46	5.46	0.80206	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.969;0.989;0.991	T	0.68014	-0.5521	10	0.87932	D	0	.	18.0713	0.89407	0.0:1.0:0.0:0.0	.	245;452;452	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	A	452;420;109;452;245;326	ENSP00000346550:G452A;ENSP00000430517:G420A;ENSP00000366980:G109A;ENSP00000348889:G452A;ENSP00000430420:G245A	ENSP00000346550:G452A	G	-	2	0	ANXA6	150479137	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.809000	0.75211	2.549000	0.85964	0.655000	0.94253	GGC		0.547	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		6	72	0	0	0	1	0	6	72				
TBL1Y	90665	broad.mit.edu	37	Y	6938313	6938313	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrY:6938313C>T	ENST00000383032.1	+	9	1181	c.534C>T	c.(532-534)caC>caT	p.H178H	TBL1Y_ENST00000346432.3_Silent_p.H178H|TBL1Y_ENST00000355162.2_Silent_p.H178H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TTCGGGGCCACGAGTCTGAGG	0.512																																						ENST00000383032.1																			0				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(532-534)caC>caT		transducin (beta)-like 1, Y-linked							103.0	102.0	102.0					Y																	6938313		598	1970	2568	SO:0001819	synonymous_variant	90665				transcription, DNA-dependent			g.chrY:6938313C>T	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.534C>T	Y.37:g.6938313C>T						TBL1Y_ENST00000346432.3_Silent_p.H178H|TBL1Y_ENST00000355162.2_Silent_p.H178H	p.H178H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN			9	1181	+			178					A1L4B3	Silent	SNP	ENST00000383032.1	37	c.534C>T	CCDS14779.1																																																																																				0.512	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		27	22	0	0	0	1	0	27	22				
CATSPER3	347732	broad.mit.edu	37	5	134305762	134305762	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:134305762C>T	ENST00000282611.6	+	2	318	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	78					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATAAGGTACCGCTTGTTCAG	0.338																																						ENST00000282611.6																			0				NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18						c.(232-234)Cgc>Tgc		cation channel, sperm associated 3							210.0	192.0	198.0					5																	134305762		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134305762C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.232C>T	5.37:g.134305762C>T	ENSP00000282611:p.Arg78Cys					CATSPER3_ENST00000511235.1_3'UTR	p.R78C	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	318	+			78					Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.232C>T	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010126	0.54361	.	.	ENSG00000152705	ENST00000282611	D	0.97553	-4.43	5.53	-0.274	0.12910	.	2.056290	0.01962	N	0.043457	D	0.94036	0.8089	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	D	0.88126	0.2835	10	0.87932	D	0	0.0145	9.8546	0.41077	0.3391:0.5565:0.1044:0.0	.	78	Q86XQ3	CTSR3_HUMAN	C	78	ENSP00000282611:R78C	ENSP00000282611:R78C	R	+	1	0	CATSPER3	134333661	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.551000	0.06027	0.023000	0.15187	0.558000	0.71614	CGC		0.338	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		54	151	0	0	0	1	0	54	151				
PHF20	51230	broad.mit.edu	37	20	34459693	34459693	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:34459693G>A	ENST00000374012.3	+	9	1353	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	408					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAGAAAACACGATGAAAACAG	0.453																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1222-1224)acG>acA		PHD finger protein 20							121.0	123.0	122.0					20																	34459693		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34459693G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1224G>A	20.37:g.34459693G>A						PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR	p.T408T			Q9BVI0	PHF20_HUMAN			9	1353	+	Breast(12;0.00631)|all_lung(11;0.0145)		408					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.1224G>A	CCDS13268.1																																																																																				0.453	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		57	209	0	0	0	1	0	57	209				
BCAP31	10134	broad.mit.edu	37	X	152968412	152968412	+	Silent	SNP	G	G	A	rs141341467	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:152968412G>A	ENST00000345046.6	-	6	986	c.579C>T	c.(577-579)gaC>gaT	p.D193D	BCAP31_ENST00000441714.1_Silent_p.D193D|BCAP31_ENST00000458587.2_Silent_p.D260D	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	193					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCTCGTCCTTTAGCT	0.587													g|||	3	0.000794702	0.0015	0.0	3775	,	,		14414	0.0		0.0	False		,,,				2504	0.001					ENST00000458587.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(778-780)gaC>gaT		B-cell receptor-associated protein 31		G	,,	4,3831		0,4,1628,571	228.0	190.0	203.0		579,780,579	-10.6	0.0	X	dbSNP_134	203	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	BCAP31	NM_001139441.1,NM_001139457.1,NM_005745.7	,,	0,4,4056,2443	AA,AG,GG,G		0.0,0.1043,0.0379	,,	193/247,260/314,193/247	152968412	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152968412G>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.579C>T	X.37:g.152968412G>A						BCAP31_ENST00000477175.1_Intron|BCAP31_ENST00000345046.6_Silent_p.D193D|BCAP31_ENST00000441714.1_Silent_p.D193D	p.D260D	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN			6	1209	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		193					B3KQ79|D3DWV5|Q13836|Q96CF0	Silent	SNP	ENST00000345046.6	37	c.780C>T	CCDS14727.1																																																																																				0.587	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		70	167	0	0	0	1	0	70	167				
ARHGEF28	64283	broad.mit.edu	37	5	73205639	73205639	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:73205639C>T	ENST00000426542.2	+	33	4584	c.4564C>T	c.(4564-4566)Cgg>Tgg	p.R1522W	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R442W|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1478W|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R1209W			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1522	Interaction with microtubules. {ECO:0000250}.|RNA-binding. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GGCGAGGATGCGGGCCCAGCA	0.721																																						ENST00000545377.1																			0											c.(4564-4566)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 28							5.0	6.0	6.0					5																	73205639		1820	3925	5745	SO:0001583	missense	64283							g.chr5:73205639C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4564C>T	5.37:g.73205639C>T	ENSP00000412175:p.Arg1522Trp					ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R1209W|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1478W|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R442W	p.R1522W	NM_001080479.2	NP_001073948.2					34	4740	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.4564C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077378	0.55753	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.09	4.13	0.48395	.	0.947588	0.08461	U	0.942364	T	0.35068	0.0919	M	0.70275	2.135	0.31247	N	0.694469	D;D;D;D;D	0.71674	0.998;0.983;0.995;0.998;0.997	P;P;P;P;P	0.52856	0.634;0.586;0.586;0.711;0.663	T	0.39165	-0.9627	10	0.87932	D	0	.	6.9951	0.24779	0.3259:0.5486:0.1255:0.0	.	1209;1522;1522;442;1522	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	W	1522;1522;1522;1478;1522;1522;1209;442	ENSP00000296794:R1522W;ENSP00000441913:R1522W;ENSP00000441436:R1522W;ENSP00000287898:R1478W;ENSP00000411459:R1522W;ENSP00000412175:R1522W;ENSP00000296799:R1209W;ENSP00000421081:R442W	ENSP00000287898:R1478W	R	+	1	2	RP11-428C6.1	73241395	1.000000	0.71417	0.254000	0.24359	0.295000	0.27426	2.769000	0.47654	2.375000	0.81037	0.305000	0.20034	CGG		0.721	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			7	7	0	0	0	1	0	7	7				
NKX2-4	644524	broad.mit.edu	37	20	21376601	21376601	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:21376601T>A	ENST00000351817.4	-	2	1641	c.1013A>T	c.(1012-1014)gAg>gTg	p.E338V	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	338					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						GCCGCTGTACTccccggcggc	0.766																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(1012-1014)gAg>gTg		NK2 homeobox 4							10.0	11.0	11.0					20																	21376601		1107	2649	3756	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376601T>A		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.1013A>T	20.37:g.21376601T>A	ENSP00000345147:p.Glu338Val						p.E338V	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			2	1641	-			338					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.1013A>T	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099326	0.37048	.	.	ENSG00000125816	ENST00000351817	D	0.91686	-2.89	4.19	4.19	0.49359	.	0.295815	0.25178	U	0.032542	D	0.87853	0.6282	L	0.38175	1.15	0.47276	D	0.999372	B	0.17268	0.021	B	0.22386	0.039	D	0.84883	0.0832	10	0.46703	T	0.11	.	13.055	0.58975	0.0:0.0:0.0:1.0	.	338	Q9H2Z4	NKX24_HUMAN	V	338	ENSP00000345147:E338V	ENSP00000345147:E338V	E	-	2	0	NKX2-4	21324601	1.000000	0.71417	0.999000	0.59377	0.113000	0.19764	7.029000	0.76477	1.742000	0.51746	0.459000	0.35465	GAG		0.766	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			6	39	0	0	0	1	0	6	39				
CHRM4	1132	broad.mit.edu	37	11	46407895	46407895	+	Silent	SNP	G	G	C	rs200009704		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:46407895G>C	ENST00000433765.2	-	1	212	c.213C>G	c.(211-213)ctC>ctG	p.L71L		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	71					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGGCTGAAGAGGAAGTAGT	0.567																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(211-213)ctC>ctG		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						91.0	94.0	93.0					11																	46407895		2197	4299	6496	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407895G>C	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.213C>G	11.37:g.46407895G>C							p.L71L	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	212	-			71					B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.213C>G	CCDS44581.1																																																																																				0.567	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		18	43	0	0	0	1	0	18	43				
EML3	256364	broad.mit.edu	37	11	62373658	62373658	+	Silent	SNP	G	G	A	rs150541468		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:62373658G>A	ENST00000394773.2	-	13	1840	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	EML3_ENST00000438258.1_5'UTR|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000278845.4_Silent_p.H512H|EML3_ENST00000529309.1_Silent_p.H511H|EML3_ENST00000531557.1_Silent_p.H294H|EML3_ENST00000494176.2_Silent_p.H483H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	511						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTCATGAGCGTGAGCCTGGG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18001	0.001		0.0	False		,,,				2504	0.0					ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1531-1533)caC>caT		echinoderm microtubule associated protein like 3							48.0	44.0	45.0					11																	62373658		2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62373658G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1533C>T	11.37:g.62373658G>A						EML3_ENST00000494176.2_Silent_p.H483H|EML3_ENST00000278845.4_Silent_p.H512H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Silent_p.H511H|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Silent_p.H294H	p.H511H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			13	1840	-			511					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1533C>T	CCDS8023.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.329	-0.957086	0.02267	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.25	-10.5	0.00291	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59268	-0.7486	4	.	.	.	-15.9957	8.2449	0.31682	0.6611:0.0666:0.1745:0.0979	.	.	.	.	C	506	.	.	R	-	1	0	EML3	62130234	0.000000	0.05858	0.042000	0.18584	0.389000	0.30415	-3.033000	0.00636	-3.277000	0.00198	-2.892000	0.00095	CGC		0.622	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		11	33	0	0	0	1	0	11	33				
BAI2	576	broad.mit.edu	37	1	32205187	32205187	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:32205187C>T	ENST00000373658.3	-	15	2558	c.2217G>A	c.(2215-2217)acG>acA	p.T739T	BAI2_ENST00000257070.4_Silent_p.T739T|BAI2_ENST00000440175.2_Silent_p.T381T|BAI2_ENST00000373655.2_Silent_p.T739T|BAI2_ENST00000527361.1_Silent_p.T739T|BAI2_ENST00000398556.3_Silent_p.T687T|BAI2_ENST00000398538.1_Silent_p.T727T|BAI2_ENST00000398542.1_Silent_p.T672T|BAI2_ENST00000398547.1_Silent_p.T672T|BAI2_ENST00000465256.1_5'Flank	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	739					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCATGGGGAACGTGATGTCAC	0.632																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2215-2217)acG>acA		brain-specific angiogenesis inhibitor 2							33.0	36.0	35.0					1																	32205187		2187	4269	6456	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32205187C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2217G>A	1.37:g.32205187C>T						BAI2_ENST00000257070.4_Silent_p.T739T|BAI2_ENST00000398547.1_Silent_p.T672T|BAI2_ENST00000527361.1_Silent_p.T739T|BAI2_ENST00000440175.2_Silent_p.T381T|BAI2_ENST00000398542.1_Silent_p.T672T|BAI2_ENST00000373655.2_Silent_p.T739T|BAI2_ENST00000398538.1_Silent_p.T727T|BAI2_ENST00000398556.3_Silent_p.T687T	p.T739T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	15	2558	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	739					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2217G>A	CCDS346.2																																																																																				0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		7	47	0	0	0	1	0	7	47				
RLF	6018	broad.mit.edu	37	1	40701720	40701720	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:40701720A>C	ENST00000372771.4	+	8	1373	c.1346A>C	c.(1345-1347)aAt>aCt	p.N449T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	449					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCGGTTCCAAATTCTCTTCGA	0.373																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(1345-1347)aAt>aCt		rearranged L-myc fusion							83.0	95.0	91.0					1																	40701720		2202	4300	6502	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701720A>C		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1346A>C	1.37:g.40701720A>C	ENSP00000361857:p.Asn449Thr						p.N449T	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1373	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	449					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1346A>C	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153781	0.57259	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.40756	1.02	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.993;0.996	T	0.66991	-0.5783	10	0.87932	D	0	-24.399	16.6406	0.85098	1.0:0.0:0.0:0.0	.	142;449	F5H2M5;Q13129	.;RLF_HUMAN	T	449;142	ENSP00000361857:N449T	ENSP00000361857:N449T	N	+	2	0	RLF	40474307	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	AAT		0.373	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		79	144	0	0	0	1	0	79	144				
HS2ST1	9653	broad.mit.edu	37	1	87563592	87563592	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:87563592C>G	ENST00000370550.5	+	5	1023	c.660C>G	c.(658-660)ttC>ttG	p.F220L	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F194L|HS2ST1_ENST00000370551.4_Missense_Mutation_p.F220L|HS2ST1_ENST00000356813.4_Missense_Mutation_p.F194L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAATCCCGTTCTTCTGTGGCC	0.448																																						ENST00000370550.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.(658-660)ttC>ttG		heparan sulfate 2-O-sulfotransferase 1							148.0	141.0	143.0					1																	87563592		2203	4300	6503	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87563592C>G	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.660C>G	1.37:g.87563592C>G	ENSP00000359581:p.Phe220Leu					HS2ST1_ENST00000370551.4_Missense_Mutation_p.F220L|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F194L|HS2ST1_ENST00000356813.4_Missense_Mutation_p.F194L	p.F220L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	5	1023	+		Lung NSC(277;0.153)	220					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.660C>G	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945706	0.92593	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T	0.81078	-1.45;-1.45;-1.45	5.43	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.89378	0.6698	M	0.93854	3.465	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.63877	0.914;0.919	D	0.91721	0.5389	10	0.59425	D	0.04	-19.1065	14.2284	0.65875	0.0:0.9279:0.0:0.0721	.	220;194	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	L	220;220;194;194	ENSP00000359581:F220L;ENSP00000359579:F194L;ENSP00000349268:F194L	ENSP00000349268:F194L	F	+	3	2	HS2ST1	87336180	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.311000	0.51919	1.407000	0.46875	0.655000	0.94253	TTC		0.448	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		26	73	0	0	0	1	0	26	73				
BRINP3	339479	broad.mit.edu	37	1	190067263	190067263	+	Missense_Mutation	SNP	C	C	T	rs553670519		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:190067263C>T	ENST00000367462.3	-	8	2417	c.2186G>A	c.(2185-2187)cGt>cAt	p.R729H	BRINP3_ENST00000534846.1_Missense_Mutation_p.R627H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	729					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GAGTCTATGACGAAGCAAGCA	0.463																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(2185-2187)cGt>cAt									117.0	112.0	114.0					1																	190067263		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067263C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2186G>A	1.37:g.190067263C>T	ENSP00000356432:p.Arg729His					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R627H	p.R729H	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	2417	-	Prostate(682;0.198)		729					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2186G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293828	0.80914	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22539	2.19;1.95	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	T	0.42396	-0.9454	10	0.72032	D	0.01	.	17.3704	0.87376	0.0:1.0:0.0:0.0	.	627;729	B7Z260;Q76B58	.;FAM5C_HUMAN	H	729;627	ENSP00000356432:R729H;ENSP00000438022:R627H	ENSP00000356432:R729H	R	-	2	0	FAM5C	188333886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.734000	0.84928	2.695000	0.91970	0.650000	0.86243	CGT		0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		5	135	0	0	0	1	0	5	135				
ENOPH1	58478	broad.mit.edu	37	4	83378133	83378133	+	Silent	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:83378133T>C	ENST00000273920.3	+	5	856	c.588T>C	c.(586-588)atT>atC	p.I196I	ENOPH1_ENST00000509635.1_Silent_p.I108I	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						ACCGAAAGATTGCAGACAGCA	0.388																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(586-588)atT>atC		enolase-phosphatase 1							171.0	164.0	166.0					4																	83378133		2203	4300	6503	SO:0001819	synonymous_variant	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83378133T>C		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.588T>C	4.37:g.83378133T>C						ENOPH1_ENST00000509635.1_Silent_p.I108I	p.I196I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			5	856	+			196						Silent	SNP	ENST00000273920.3	37	c.588T>C	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	t	9.514	1.106421	0.20632	.	.	ENSG00000145293	ENST00000456931	.	.	.	5.37	0.303	0.15791	.	.	.	.	.	T	0.63271	0.2497	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63892	-0.6534	5	0.87932	D	0	-17.9209	9.0801	0.36547	0.0:0.2826:0.0:0.7174	.	.	.	.	R	196	.	ENSP00000408959:C196R	C	+	1	0	ENOPH1	83597157	1.000000	0.71417	0.995000	0.50966	0.737000	0.42083	0.663000	0.25053	0.113000	0.18004	0.477000	0.44152	TGC		0.388	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		8	139	0	0	0	1	0	8	139				
USP10	9100	broad.mit.edu	37	16	84806160	84806160	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:84806160G>A	ENST00000219473.7	+	12	2125	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	USP10_ENST00000570191.1_Missense_Mutation_p.R675Q	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	671	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAGATAAGTCGAAGAGTGACT	0.478																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2011-2013)cGa>cAa		ubiquitin specific peptidase 10							216.0	218.0	217.0					16																	84806160		2054	4190	6244	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84806160G>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2012G>A	16.37:g.84806160G>A	ENSP00000219473:p.Arg671Gln					USP10_ENST00000570191.1_Missense_Mutation_p.R675Q	p.R671Q	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			12	2125	+			671					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.2012G>A	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347493	0.61183	.	.	ENSG00000103194	ENST00000219473	T	0.31510	1.49	4.32	4.32	0.51571	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.26955	0.0660	L	0.38733	1.17	0.80722	D	1	D;B	0.56035	0.974;0.357	B;B	0.42593	0.392;0.166	T	0.04281	-1.0963	10	0.33141	T	0.24	-10.7993	16.1513	0.81624	0.0:0.0:1.0:0.0	.	675;671	Q14694-3;Q14694	.;UBP10_HUMAN	Q	671	ENSP00000219473:R671Q	ENSP00000219473:R671Q	R	+	2	0	USP10	83363661	1.000000	0.71417	0.692000	0.30179	0.996000	0.88848	9.178000	0.94855	2.121000	0.65114	0.563000	0.77884	CGA		0.478	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			54	160	0	0	0	1	0	54	160				
SYDE2	84144	broad.mit.edu	37	1	85655743	85655743	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:85655743C>A	ENST00000341460.5	-	2	1487	c.1438G>T	c.(1438-1440)Gca>Tca	p.A480S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	480					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.A402S(1)|p.A480S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTTTACCTGCAAAAGGAGAT	0.328																																						ENST00000341460.5																			2	Substitution - Missense(2)	p.A402S(1)|p.A480S(1)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1438-1440)Gca>Tca		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							199.0	190.0	193.0					1																	85655743		1868	4096	5964	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85655743C>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1438G>T	1.37:g.85655743C>A	ENSP00000340594:p.Ala480Ser						p.A480S	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1487	-			480					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1438G>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273037	0.23221	.	.	ENSG00000097096	ENST00000341460	T	0.07216	3.21	5.52	-4.36	0.03645	.	0.779595	0.12353	N	0.476373	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.20671	0.016;0.047	B;B	0.16289	0.007;0.015	T	0.45571	-0.9252	10	0.30078	T	0.28	.	5.2561	0.15548	0.3532:0.2831:0.0:0.3637	.	480;480	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	S	480	ENSP00000340594:A480S	ENSP00000340594:A480S	A	-	1	0	SYDE2	85428331	0.001000	0.12720	0.842000	0.33263	0.886000	0.51366	-0.396000	0.07278	-0.656000	0.05380	-0.157000	0.13467	GCA		0.328	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			44	108	1	0	6.17242e-35	1	6.56167e-35	44	108				
FCRL3	115352	broad.mit.edu	37	1	157668357	157668357	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:157668357T>C	ENST00000368184.3	-	4	406	c.115A>G	c.(115-117)Aaa>Gaa	p.K39E	FCRL3_ENST00000368186.5_Missense_Mutation_p.K39E|FCRL3_ENST00000473231.1_5'Flank|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	39	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGAGCCACTTTTTCTCCTTTG	0.453																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(115-117)Aaa>Gaa		Fc receptor-like 3							142.0	131.0	135.0					1																	157668357		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157668357T>C	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.115A>G	1.37:g.157668357T>C	ENSP00000357167:p.Lys39Glu					FCRL3_ENST00000368186.5_Missense_Mutation_p.K39E	p.K39E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			4	406	-	all_hematologic(112;0.0378)		39			Ig-like C2-type 1.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.115A>G	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	T	7.110	0.575768	0.13623	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12147	2.71;2.71	5.46	3.08	0.35506	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.412690	0.05354	N	0.532423	T	0.03011	0.0089	L	0.40543	1.245	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.15870	0.014;0.012	T	0.44019	-0.9355	10	0.12766	T	0.61	.	4.3311	0.11064	0.3073:0.0843:0.0:0.6084	.	39;39	Q96P31;Q96P31-6	FCRL3_HUMAN;.	E	39	ENSP00000357169:K39E;ENSP00000357167:K39E	ENSP00000292392:K39E	K	-	1	0	FCRL3	155934981	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.917000	0.28665	0.337000	0.23665	0.482000	0.46254	AAA		0.453	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		12	93	0	0	0	1	0	12	93				
OR5T3	390154	broad.mit.edu	37	11	56020607	56020607	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:56020607T>G	ENST00000303059.3	+	1	932	c.932T>G	c.(931-933)gTg>gGg	p.V311G		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TACACAATTGTGATTCCCAAG	0.333																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(931-933)gTg>gGg		olfactory receptor, family 5, subfamily T, member 3							90.0	83.0	85.0					11																	56020607		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020607T>G	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.932T>G	11.37:g.56020607T>G	ENSP00000305403:p.Val311Gly						p.V311G	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	932	+	Esophageal squamous(21;0.00448)		311					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.932T>G	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305791	0.40795	.	.	ENSG00000172489	ENST00000303059	T	0.00299	8.22	4.32	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.173138	0.27482	N	0.019165	T	0.00440	0.0014	M	0.90145	3.09	0.44547	D	0.997509	B	0.26902	0.163	B	0.40477	0.33	T	0.58713	-0.7588	10	0.72032	D	0.01	.	6.1793	0.20461	0.0:0.0819:0.309:0.6091	.	311	Q8NGG3	OR5T3_HUMAN	G	311	ENSP00000305403:V311G	ENSP00000305403:V311G	V	+	2	0	OR5T3	55777183	0.038000	0.19896	0.993000	0.49108	0.924000	0.55760	1.957000	0.40392	0.257000	0.21650	0.523000	0.50628	GTG		0.333	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		4	99	0	0	0	1	0	4	99				
FGFR3	2261	broad.mit.edu	37	4	1808029	1808029	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:1808029C>G	ENST00000260795.2	+	14	2107	c.2005C>G	c.(2005-2007)Cga>Gga	p.R669G	FGFR3_ENST00000340107.4_Missense_Mutation_p.R671G|FGFR3_ENST00000440486.2_Missense_Mutation_p.R669G|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000412135.2_Missense_Mutation_p.R557G|FGFR3_ENST00000352904.1_Missense_Mutation_p.R557G			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CTTGTTTGACCGAGTCTACAC	0.657		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2011-2013)Cga>Gga		fibroblast growth factor receptor 3	Palifermin(DB00039)						54.0	49.0	51.0					4																	1808029		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808029C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2005C>G	4.37:g.1808029C>G	ENSP00000260795:p.Arg669Gly					FGFR3_ENST00000412135.2_Missense_Mutation_p.R557G|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Missense_Mutation_p.R557G|FGFR3_ENST00000440486.2_Missense_Mutation_p.R669G|FGFR3_ENST00000260795.2_Missense_Mutation_p.R669G	p.R671G	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		15	2267	+		Breast(71;0.212)|all_epithelial(65;0.241)	669			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2011C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	17.87	3.495061	0.64186	.	.	ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.80237	0.4586	N	0.02247	-0.625	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.81914	0.962;0.995;0.986	D	0.87397	0.2367	9	0.87932	D	0	.	17.5412	0.87848	0.0:1.0:0.0:0.0	.	671;557;669	P22607-2;P22607-3;P22607	.;.;FGFR3_HUMAN	G	671;669;557;669;557	ENSP00000339824:R671G;ENSP00000414914:R669G;ENSP00000412903:R557G;ENSP00000260795:R669G;ENSP00000231803:R557G	ENSP00000260795:R669G	R	+	1	2	FGFR3	1777827	1.000000	0.71417	0.985000	0.45067	0.948000	0.59901	3.707000	0.54838	2.206000	0.71126	0.561000	0.74099	CGA		0.657	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		24	39	0	0	0	1	0	24	39				
GALNT8	26290	broad.mit.edu	37	12	4830002	4830002	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:4830002C>T	ENST00000252318.2	+	1	496	c.159C>T	c.(157-159)taC>taT	p.Y53Y	RP11-234B24.6_ENST00000544741.2_Intron|RP11-234B24.2_ENST00000527518.1_lincRNA	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	53			Y -> D (in dbSNP:rs10849133).|Y -> N. {ECO:0000269|PubMed:10767557}.		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						ATAAACGCTACGGGGCAGTGA	0.468																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				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						c.(157-159)taC>taT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)																																				SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4830002C>T	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.159C>T	12.37:g.4830002C>T						RP11-234B24.6_ENST00000544741.2_Intron	p.Y53Y	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			1	496	+			53		Y -> D (in dbSNP:rs10849133).|Y -> N.			B2RU02	Silent	SNP	ENST00000252318.2	37	c.159C>T	CCDS8533.1																																																																																				0.468	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		34	107	0	0	0	1	0	34	107				
FGL2	10875	broad.mit.edu	37	7	76825863	76825863	+	Silent	SNP	G	G	A	rs147938006		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:76825863G>A	ENST00000248598.5	-	2	1085	c.1053C>T	c.(1051-1053)caC>caT	p.H351H	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	351	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACTTCAGATCGTGGTTGTAAT	0.408																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(1051-1053)caC>caT		fibrinogen-like 2		G	,	1,4405	2.1+/-5.4	0,1,2202	178.0	149.0	159.0		1053,	-11.5	0.0	7	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous,intron	FGL2,CCDC146	NM_006682.2,NM_020879.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	351/440,	76825863	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76825863G>A	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.1053C>T	7.37:g.76825863G>A						RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	p.H351H	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			2	1085	-			351			Fibrinogen C-terminal.			Silent	SNP	ENST00000248598.5	37	c.1053C>T	CCDS5591.1																																																																																				0.408	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		4	135	0	0	0	1	0	4	135				
CALCOCO2	10241	broad.mit.edu	37	17	46939666	46939666	+	Splice_Site	SNP	G	G	A	rs529161635	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:46939666G>A	ENST00000258947.3	+	12	1274	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	CALCOCO2_ENST00000509507.1_Splice_Site_p.P412P|CALCOCO2_ENST00000416445.2_Splice_Site_p.P349P|CALCOCO2_ENST00000448105.2_Splice_Site_p.P415P|CALCOCO2_ENST00000508679.1_Splice_Site_p.P319P	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	391					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CCCCCAGCCCGGTAAGTATTT	0.413													g|||	3	0.000599042	0.0	0.0	5008	,	,		18863	0.0		0.0	False		,,,				2504	0.0031					ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.e12+1		calcium binding and coiled-coil domain 2							108.0	105.0	106.0					17																	46939666		2203	4300	6503	SO:0001630	splice_region_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46939666G>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.1173+1G>A	17.37:g.46939666G>A						CALCOCO2_ENST00000508679.1_Splice_Site_p.P319_splice|CALCOCO2_ENST00000509507.1_Splice_Site_p.P412_splice|CALCOCO2_ENST00000448105.2_Splice_Site_p.P415_splice|CALCOCO2_ENST00000416445.2_Splice_Site_p.P349_splice	p.P391_splice	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			12	1274	+			391					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Splice_Site	SNP	ENST00000258947.3	37	c.1173_splice	CCDS11538.1																																																																																				0.413	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831	Silent	35	102	0	0	0	1	0	35	102				
POGLUT1	56983	broad.mit.edu	37	3	119205708	119205708	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:119205708C>G	ENST00000295588.4	+	7	751	c.667C>G	c.(667-669)Ctt>Gtt	p.L223V		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	223					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TCCTCTCATTCTTCTGTCTCG	0.408																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(667-669)Ctt>Gtt		protein O-glucosyltransferase 1							179.0	180.0	180.0					3																	119205708		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119205708C>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.667C>G	3.37:g.119205708C>G	ENSP00000295588:p.Leu223Val						p.L223V	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			7	751	+			223					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.667C>G	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622497	0.87460	.	.	ENSG00000163389	ENST00000295588	T	0.22539	1.95	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.89904	3.07	0.58432	D	0.999996	D	0.76494	0.999	D	0.69479	0.964	T	0.52124	-0.8617	10	0.29301	T	0.29	-17.6771	14.3431	0.66641	0.0:1.0:0.0:0.0	.	223	Q8NBL1	PGLT1_HUMAN	V	223	ENSP00000295588:L223V	ENSP00000295588:L223V	L	+	1	0	POGLUT1	120688398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.648000	0.54410	2.758000	0.94735	0.591000	0.81541	CTT		0.408	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		8	243	0	0	0	1	0	8	243				
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:57033894G>A	ENST00000262030.3	-	8	1207	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	386					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1156-1158)tCg>tTg		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							139.0	114.0	122.0					12																	57033894		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57033894G>A	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1157C>T	12.37:g.57033894G>A	ENSP00000262030:p.Ser386Leu					ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	p.S386L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			8	1207	-			386					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1157C>T	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367637	0.82463	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551570	D;D;D	0.81499	-1.5;-1.5;-1.5	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96586	0.9434	10	0.87932	D	0	-18.6154	18.7629	0.91860	0.0:0.0:1.0:0.0	.	386	P06576	ATPB_HUMAN	L	386;375;89;130	ENSP00000262030:S386L;ENSP00000450297:S375L;ENSP00000448428:S130L	ENSP00000262030:S386L	S	-	2	0	ATP5B	55320161	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.653000	0.98506	2.723000	0.93209	0.655000	0.94253	TCG		0.512	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		20	60	0	0	0	1	0	20	60				
AMBRA1	55626	broad.mit.edu	37	11	46564148	46564148	+	Silent	SNP	C	C	T	rs537387168		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:46564148C>T	ENST00000458649.2	-	7	1837	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P	AMBRA1_ENST00000528950.1_Silent_p.P473P|AMBRA1_ENST00000298834.3_Silent_p.P473P|AMBRA1_ENST00000314845.3_Silent_p.P383P|AMBRA1_ENST00000534300.1_Silent_p.P473P|AMBRA1_ENST00000533727.1_Silent_p.P383P|AMBRA1_ENST00000426438.1_Silent_p.P473P			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	473					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACCCTGATGCCGGAAAACCCC	0.557													.|||	1	0.000199681	0.0	0.0	5008	,	,		19944	0.0		0.0	False		,,,				2504	0.001					ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1417-1419)ccG>ccA		autophagy/beclin-1 regulator 1							101.0	95.0	97.0					11																	46564148		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564148C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1419G>A	11.37:g.46564148C>T						AMBRA1_ENST00000528950.1_Silent_p.P473P|AMBRA1_ENST00000533727.1_Silent_p.P383P|AMBRA1_ENST00000314845.3_Silent_p.P383P|AMBRA1_ENST00000298834.3_Silent_p.P473P|AMBRA1_ENST00000426438.1_Silent_p.P473P|AMBRA1_ENST00000534300.1_Silent_p.P473P	p.P473P			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1837	-			473					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.1419G>A																																																																																					0.557	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		4	109	0	0	0	1	0	4	109				
ANKRD50	57182	broad.mit.edu	37	4	125591221	125591221	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:125591221G>A	ENST00000504087.1	-	4	4248	c.3211C>T	c.(3211-3213)Cca>Tca	p.P1071S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P892S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1071										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCATGGTTTGGATCAGCACCA	0.418																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3211-3213)Cca>Tca		ankyrin repeat domain 50							107.0	102.0	104.0					4																	125591221		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591221G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3211C>T	4.37:g.125591221G>A	ENSP00000425658:p.Pro1071Ser					ANKRD50_ENST00000515641.1_Missense_Mutation_p.P892S	p.P1071S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4248	-			1071					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3211C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757829	0.89843	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.65916	-0.18;-0.18	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.79011	2.435	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.80264	-0.1455	10	0.54805	T	0.06	.	19.614	0.95622	0.0:0.0:1.0:0.0	.	1071	Q9ULJ7	ANR50_HUMAN	S	1071;892	ENSP00000425658:P1071S;ENSP00000425355:P892S	ENSP00000425658:P1071S	P	-	1	0	ANKRD50	125810671	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	9.060000	0.93907	2.873000	0.98535	0.561000	0.74099	CCA		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		36	128	0	0	0	1	0	36	128				
CHAC1	79094	broad.mit.edu	37	15	41245817	41245817	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr15:41245817C>T	ENST00000446533.3	+	1	471	c.162C>T	c.(160-162)ccC>ccT	p.P54P	CHAC1_ENST00000444189.2_Silent_p.P54P|CHAC1_ENST00000487220.1_5'Flank	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	54					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACACCCCGCCCACCTCGCAGT	0.692																																						ENST00000446533.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(160-162)ccC>ccT		ChaC, cation transport regulator homolog 1 (E. coli)							37.0	37.0	37.0					15																	41245817		2203	4300	6503	SO:0001819	synonymous_variant	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41245817C>T	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.162C>T	15.37:g.41245817C>T						CHAC1_ENST00000444189.2_Silent_p.P54P	p.P54P	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	471	+		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	54					Q0VIA0	Silent	SNP	ENST00000446533.3	37	c.162C>T	CCDS10070.2																																																																																				0.692	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		8	48	0	0	0	1	0	8	48				
TAS2R60	338398	broad.mit.edu	37	7	143140993	143140993	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:143140993G>A	ENST00000332690.1	+	1	448	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	150					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CAGCTCTGTAGGGCTCTCCAG	0.453																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(448-450)Ggg>Agg		taste receptor, type 2, member 60							157.0	152.0	154.0					7																	143140993		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140993G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.448G>A	7.37:g.143140993G>A	ENSP00000327724:p.Gly150Arg					EPHA1-AS1_ENST00000429289.1_RNA	p.G150R	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	448	+	Melanoma(164;0.172)		150					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.448G>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874026	0.51695	.	.	ENSG00000185899	ENST00000332690	T	0.00724	5.78	5.62	1.54	0.23209	.	0.628973	0.14077	U	0.343001	T	0.02304	0.0071	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	D	0.71184	0.972	T	0.47724	-0.9095	10	0.51188	T	0.08	.	6.6136	0.22765	0.0826:0.0:0.4588:0.4586	.	150	P59551	T2R60_HUMAN	R	150	ENSP00000327724:G150R	ENSP00000327724:G150R	G	+	1	0	TAS2R60	142851115	0.001000	0.12720	0.000000	0.03702	0.148000	0.21650	-0.076000	0.11412	0.301000	0.22738	0.591000	0.81541	GGG		0.453	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			66	120	0	0	0	1	0	66	120				
DPP3	10072	broad.mit.edu	37	11	66260377	66260377	+	Silent	SNP	C	C	T	rs202241881		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:66260377C>T	ENST00000360510.2	+	10	1244	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	DPP3_ENST00000453114.1_Silent_p.P393P|DPP3_ENST00000532677.1_Silent_p.P412P|DPP3_ENST00000530165.1_Silent_p.P363P|DPP3_ENST00000531863.1_Silent_p.P413P|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Silent_p.P393P			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	393					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCAACATCCCCAACTGTGAGT	0.597																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1234-1236)ccC>ccT		dipeptidyl-peptidase 3							61.0	65.0	64.0					11																	66260377		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260377C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1179C>T	11.37:g.66260377C>T						DPP3_ENST00000531863.1_Silent_p.P413P|DPP3_ENST00000360510.2_Silent_p.P393P|DPP3_ENST00000530165.1_Silent_p.P363P|DPP3_ENST00000541961.1_Silent_p.P393P|DPP3_ENST00000453114.1_Silent_p.P393P|DPP3_ENST00000533799.1_3'UTR	p.P412P	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			10	1637	+			393					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1236C>T	CCDS8141.1																																																																																				0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			24	75	0	0	0	1	0	24	75				
SCNN1B	6338	broad.mit.edu	37	16	23390046	23390046	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:23390046T>G	ENST00000343070.2	+	11	1600	c.1424T>G	c.(1423-1425)tTg>tGg	p.L475W	SCNN1B_ENST00000568085.1_Missense_Mutation_p.L439W|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L520W|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L448W	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	475					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCCACGTCTTGTCTCAGGAG	0.592																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1423-1425)tTg>tGg		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						115.0	90.0	99.0					16																	23390046		2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23390046T>G	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1424T>G	16.37:g.23390046T>G	ENSP00000345751:p.Leu475Trp					SCNN1B_ENST00000568085.1_Missense_Mutation_p.L439W|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L448W|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L520W	p.L475W	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	11	1600	+			475					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1424T>G	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918394	0.73098	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.74209	-0.8;-0.82	4.78	4.78	0.61160	.	0.198632	0.33650	N	0.004697	D	0.83335	0.5232	M	0.76938	2.355	0.45515	D	0.998472	P	0.51791	0.948	P	0.58013	0.831	D	0.85930	0.1451	10	0.87932	D	0	-2.6946	13.5115	0.61515	0.0:0.0:0.0:1.0	.	475	P51168	SCNNB_HUMAN	W	475;520	ENSP00000345751:L475W;ENSP00000302874:L520W	ENSP00000302874:L520W	L	+	2	0	SCNN1B	23297547	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	5.842000	0.69417	1.776000	0.52262	0.418000	0.28097	TTG		0.592	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			3	55	0	0	0	1	0	3	55				
MECOM	2122	broad.mit.edu	37	3	168812977	168812977	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:168812977C>T	ENST00000464456.1	-	11	3515	c.2315G>A	c.(2314-2316)cGc>cAc	p.R772H	MECOM_ENST00000460814.1_Missense_Mutation_p.R772H|MECOM_ENST00000433243.2_Missense_Mutation_p.R782H|MECOM_ENST00000494292.1_Missense_Mutation_p.R960H|MECOM_ENST00000264674.3_Missense_Mutation_p.R846H|MECOM_ENST00000472280.1_Missense_Mutation_p.R782H|MECOM_ENST00000392736.3_Missense_Mutation_p.R781H|MECOM_ENST00000468789.1_Missense_Mutation_p.R781H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGGATGTTGCGAACATGCCT	0.333																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2314-2316)cGc>cAc		MDS1 and EVI1 complex locus							139.0	121.0	127.0					3																	168812977		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168812977C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2315G>A	3.37:g.168812977C>T	ENSP00000419770:p.Arg772His					MECOM_ENST00000494292.1_Missense_Mutation_p.R960H|MECOM_ENST00000468789.1_Missense_Mutation_p.R781H|MECOM_ENST00000472280.1_Missense_Mutation_p.R782H|MECOM_ENST00000392736.3_Missense_Mutation_p.R781H|MECOM_ENST00000264674.3_Missense_Mutation_p.R846H|MECOM_ENST00000460814.1_Missense_Mutation_p.R772H|MECOM_ENST00000433243.2_Missense_Mutation_p.R782H	p.R772H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			11	3515	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2315G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168799	0.57584	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.99;1.0;1.0;0.999	D;P;D;D;D	0.76575	0.979;0.745;0.988;0.96;0.971	T	0.54337	-0.8309	10	0.87932	D	0	-0.3271	19.7122	0.96100	0.0:1.0:0.0:0.0	.	969;773;960;846;781	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	H	846;781;772;782;960;781;772;782	ENSP00000264674:R846H;ENSP00000376493:R781H;ENSP00000419770:R772H;ENSP00000420048:R782H;ENSP00000417899:R960H;ENSP00000419995:R781H;ENSP00000420466:R772H;ENSP00000394302:R782H	ENSP00000264674:R846H	R	-	2	0	MECOM	170295671	1.000000	0.71417	0.982000	0.44146	0.353000	0.29299	7.770000	0.85390	2.681000	0.91329	0.561000	0.74099	CGC		0.333	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		7	155	0	0	0	1	0	7	155				
ZNF326	284695	broad.mit.edu	37	1	90473298	90473298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:90473298C>T	ENST00000340281.4	+	5	747	c.604C>T	c.(604-606)Cga>Tga	p.R202*	ZNF326_ENST00000370447.3_Nonsense_Mutation_p.R113*|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	202	Gly-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGCAGAGGCCGAGGCCGAGG	0.448																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(604-606)Cga>Tga		zinc finger protein 326							68.0	70.0	69.0					1																	90473298		2203	4300	6503	SO:0001587	stop_gained	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90473298C>T	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.604C>T	1.37:g.90473298C>T	ENSP00000340796:p.Arg202*					ZNF326_ENST00000370447.2_Nonsense_Mutation_p.R113*|ZNF326_ENST00000455342.2_Intron	p.R202*	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	5	747	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	202			Gly-rich.		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Nonsense_Mutation	SNP	ENST00000340281.4	37	c.604C>T	CCDS727.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728093	0.96856	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447	.	.	.	5.84	5.84	0.93424	.	0.238035	0.36444	N	0.002594	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-3.3262	20.1319	0.98001	0.0:1.0:0.0:0.0	.	.	.	.	X	202;202;113	.	ENSP00000340796:R202X	R	+	1	2	ZNF326	90245886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.260000	0.51523	2.747000	0.94245	0.655000	0.94253	CGA		0.448	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		19	83	0	0	0	1	0	19	83				
USP4	7375	broad.mit.edu	37	3	49343283	49343283	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:49343283G>A	ENST00000265560.4	-	9	1039	c.993C>T	c.(991-993)ctC>ctT	p.L331L	USP4_ENST00000351842.4_Silent_p.L284L|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	331	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACTCATCTTTGAGAAAGTAGT	0.438																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(850-852)ctC>ctT		ubiquitin specific peptidase 4 (proto-oncogene)							100.0	87.0	92.0					3																	49343283		2203	4300	6503	SO:0001819	synonymous_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49343283G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.993C>T	3.37:g.49343283G>A						USP4_ENST00000265560.4_Silent_p.L331L|USP4_ENST00000488520.1_5'UTR	p.L284L	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	8	860	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	331					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	c.852C>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	9.680	1.149020	0.21288	.	.	ENSG00000114316	ENST00000431357	.	.	.	6.05	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.1025	2.7838	0.05368	0.119:0.3244:0.4065:0.1501	.	.	.	.	X	88	.	.	Q	-	1	0	USP4	49318287	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.333000	0.33816	1.309000	0.44985	0.650000	0.86243	CAA		0.438	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		6	59	0	0	0	1	0	6	59				
MCTP1	79772	broad.mit.edu	37	5	94230404	94230404	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:94230404C>T	ENST00000515393.1	-	11	1788	c.1789G>A	c.(1789-1791)Gtc>Atc	p.V597I	MCTP1_ENST00000505208.1_Missense_Mutation_p.V376I|MCTP1_ENST00000505078.1_Missense_Mutation_p.V113I|MCTP1_ENST00000312216.8_Missense_Mutation_p.V376I|MCTP1_ENST00000429576.2_Missense_Mutation_p.V330I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	597					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGGAGTTGACAGACAGGTCA	0.522																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(1789-1791)Gtc>Atc		multiple C2 domains, transmembrane 1							109.0	90.0	96.0					5																	94230404		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94230404C>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1789G>A	5.37:g.94230404C>T	ENSP00000424126:p.Val597Ile					MCTP1_ENST00000312216.8_Missense_Mutation_p.V376I|MCTP1_ENST00000505208.1_Missense_Mutation_p.V376I|MCTP1_ENST00000505078.1_Missense_Mutation_p.V113I|MCTP1_ENST00000429576.2_Missense_Mutation_p.V330I	p.V597I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	11	1788	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	597					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1789G>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644082	0.14451	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.77620	-1.11;-0.82;-0.08;-0.99;-0.81;-0.92;-1.1;-0.75	5.22	2.45	0.29901	.	0.200085	0.42682	D	0.000680	T	0.71056	0.3295	M	0.70275	2.135	0.43494	D	0.995734	B;B;B	0.33748	0.193;0.423;0.016	B;B;B	0.23419	0.036;0.046;0.023	T	0.65397	-0.6178	10	0.34782	T	0.22	-1.0974	11.2348	0.48933	0.0:0.7061:0.0:0.2939	.	597;330;376	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	I	597;330;113;376;317;258;376;198	ENSP00000424126:V597I;ENSP00000391639:V330I;ENSP00000426417:V113I;ENSP00000308957:V376I;ENSP00000423410:V317I;ENSP00000431075:V258I;ENSP00000426438:V376I;ENSP00000426294:V198I	ENSP00000308957:V376I	V	-	1	0	MCTP1	94256160	0.091000	0.21658	0.349000	0.25694	0.024000	0.10985	0.632000	0.24583	0.292000	0.22492	0.467000	0.42956	GTC		0.522	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		41	100	0	0	0	1	0	41	100				
ARID2	196528	broad.mit.edu	37	12	46245982	46245982	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:46245982A>G	ENST00000334344.6	+	15	4248	c.4076A>G	c.(4075-4077)aAt>aGt	p.N1359S	ARID2_ENST00000444670.1_Missense_Mutation_p.N969S|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.N1210S|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1359					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCGCTAGTTAATGGAATCTGT	0.353			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4075-4077)aAt>aGt		AT rich interactive domain 2 (ARID, RFX-like)							66.0	64.0	65.0					12																	46245982		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245982A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4076A>G	12.37:g.46245982A>G	ENSP00000335044:p.Asn1359Ser					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.N969S|ARID2_ENST00000422737.1_Missense_Mutation_p.N1210S	p.N1359S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4248	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1359					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4076A>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012013	0.54468	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.53423	0.62	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	T	0.62877	-0.6761	10	0.87932	D	0	-15.3292	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1359;969;1359	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	S	1359;476;476;1210;969	ENSP00000335044:N1359S	ENSP00000335044:N1359S	N	+	2	0	ARID2	44532249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.690000	0.91272	2.326000	0.78906	0.533000	0.62120	AAT		0.353	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		19	52	0	0	0	1	0	19	52				
SLC44A2	57153	broad.mit.edu	37	19	10753987	10753987	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:10753987G>A	ENST00000335757.5	+	22	2423	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E681K			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	683					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.E683K(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGCTCGGCCGAGAGGCCTTA	0.607																																						ENST00000335757.5																			1	Substitution - Missense(1)	p.E683K(1)	lung(1)	NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(2047-2049)Gag>Aag		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						38.0	34.0	36.0					19																	10753987		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10753987G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2047G>A	19.37:g.10753987G>A	ENSP00000336888:p.Glu683Lys					SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E681K	p.E683K			Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		22	2423	+			683					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.2047G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535702	0.96460	.	.	ENSG00000129353	ENST00000407327;ENST00000335757	T;T	0.11495	2.77;2.77	5.19	5.19	0.71726	.	0.099641	0.64402	D	0.000002	T	0.36026	0.0952	M	0.85299	2.745	0.80722	D	1	P;D	0.67145	0.879;0.996	B;P	0.62491	0.324;0.903	T	0.29150	-1.0021	10	0.62326	D	0.03	.	17.4847	0.87684	0.0:0.0:1.0:0.0	.	683;681	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	K	681;683	ENSP00000385135:E681K;ENSP00000336888:E683K	ENSP00000336888:E683K	E	+	1	0	SLC44A2	10614987	1.000000	0.71417	0.961000	0.40146	0.936000	0.57629	7.359000	0.79477	2.427000	0.82271	0.563000	0.77884	GAG		0.607	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			10	33	0	0	0	1	0	10	33				
ZNF816	125893	broad.mit.edu	37	19	53454609	53454609	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:53454609T>C	ENST00000357666.4	-	5	719	c.419A>G	c.(418-420)gAc>gGc	p.D140G	ZNF816_ENST00000391786.2_3'UTR|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.D140G	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	140					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATCACTTCGGTCTGTACTACC	0.398																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(418-420)gAc>gGc		zinc finger protein 816							176.0	180.0	179.0					19																	53454609		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454609T>C	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.419A>G	19.37:g.53454609T>C	ENSP00000350295:p.Asp140Gly					ZNF816_ENST00000444460.2_Missense_Mutation_p.D140G|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR	p.D140G	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	719	-			140					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.419A>G	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	6.579	0.475197	0.12521	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.06068	3.35;3.35	1.46	0.381	0.16228	.	.	.	.	.	T	0.03178	0.0093	N	0.12853	0.265	0.09310	N	0.999995	B	0.19200	0.034	B	0.15052	0.012	T	0.44436	-0.9328	9	0.35671	T	0.21	.	3.2277	0.06737	0.0:0.2555:0.0:0.7444	.	140	Q0VGE8	ZN816_HUMAN	G	140	ENSP00000350295:D140G;ENSP00000403266:D140G	ENSP00000350295:D140G	D	-	2	0	ZNF816	58146421	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-1.234000	0.02931	0.049000	0.15920	0.172000	0.16884	GAC		0.398	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		75	443	0	0	0	1	0	75	443				
CA9	768	broad.mit.edu	37	9	35675835	35675835	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr9:35675835G>A	ENST00000378357.4	+	3	615	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	171	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CCCCCAGCTCGCCGCCTTCTG	0.721																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(511-513)Gcc>Acc		carbonic anhydrase IX							10.0	12.0	11.0					9																	35675835		2005	4095	6100	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35675835G>A	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.511G>A	9.37:g.35675835G>A	ENSP00000367608:p.Ala171Thr						p.A171T	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	615	+	all_epithelial(49;0.217)		171			Catalytic.		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.511G>A	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331128	0.24167	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.54071	0.59	5.07	-3.72	0.04411	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.903037	0.09513	N	0.792041	T	0.22322	0.0538	N	0.03016	-0.435	0.09310	N	1	B;B	0.20780	0.048;0.03	B;B	0.12156	0.007;0.006	T	0.32322	-0.9911	10	0.09590	T	0.72	.	11.3045	0.49327	0.7813:0.0:0.2187:0.0	.	171;171	F5H404;Q16790	.;CAH9_HUMAN	T	171	ENSP00000367608:A171T	ENSP00000367608:A171T	A	+	1	0	CA9	35665835	0.000000	0.05858	0.034000	0.17996	0.751000	0.42716	-0.337000	0.07852	-0.530000	0.06349	0.561000	0.74099	GCC		0.721	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		8	29	0	0	0	1	0	8	29				
CKAP4	10970	broad.mit.edu	37	12	106633043	106633043	+	Missense_Mutation	SNP	C	C	A	rs374979802		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:106633043C>A	ENST00000378026.4	-	2	1704	c.1568G>T	c.(1567-1569)cGt>cTt	p.R523L	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	523						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGAGGCAGACGGGCGGCCTG	0.587																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(1567-1569)cGt>cTt		cytoskeleton-associated protein 4		C	LEU/ARG	0,4406		0,0,2203	66.0	64.0	65.0		1568	-6.2	0.0	12		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CKAP4	NM_006825.3	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	523/603	106633043	1,13005	2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633043C>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1568G>T	12.37:g.106633043C>A	ENSP00000367265:p.Arg523Leu						p.R523L	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1704	-			523					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.1568G>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531300	0.13127	0.0	1.16E-4	ENSG00000136026	ENST00000378026	T	0.48836	0.8	5.27	-6.16	0.02098	.	1.419920	0.03927	N	0.284543	T	0.35941	0.0949	L	0.44542	1.39	0.09310	N	1	B	0.27882	0.192	B	0.26094	0.066	T	0.21552	-1.0242	10	0.25751	T	0.34	-0.0539	9.1329	0.36857	0.0:0.3997:0.2826:0.3177	.	523	Q07065	CKAP4_HUMAN	L	523	ENSP00000367265:R523L	ENSP00000367265:R523L	R	-	2	0	CKAP4	105157173	0.000000	0.05858	0.000000	0.03702	0.546000	0.35178	-0.217000	0.09253	-0.999000	0.03442	0.650000	0.86243	CGT		0.587	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			33	70	1	0	8.16721e-17	1	8.45378e-17	33	70				
CEP120	153241	broad.mit.edu	37	5	122708454	122708454	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:122708454C>T	ENST00000306467.5	-	17	2675	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	CEP120_ENST00000306481.6_Missense_Mutation_p.E765K|CEP120_ENST00000328236.5_Missense_Mutation_p.E791K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	791					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TACTTATTTTCAGCATCATTA	0.294																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2371-2373)Gaa>Aaa		centrosomal protein 120kDa							81.0	73.0	76.0					5																	122708454		2203	4299	6502	SO:0001583	missense	153241					centrosome		g.chr5:122708454C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2371G>A	5.37:g.122708454C>T	ENSP00000303058:p.Glu791Lys					CEP120_ENST00000306481.6_Missense_Mutation_p.E765K|CEP120_ENST00000328236.5_Missense_Mutation_p.E791K	p.E791K			Q8N960	CE120_HUMAN			17	2675	-			791					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2371G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967905	0.53507	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.97	4.97	0.65823	.	0.113719	0.64402	D	0.000018	T	0.34919	0.0914	L	0.61036	1.89	0.80722	D	1	B	0.24576	0.106	B	0.22386	0.039	T	0.11012	-1.0605	10	0.32370	T	0.25	-11.6422	19.1121	0.93319	0.0:1.0:0.0:0.0	.	791	Q8N960	CE120_HUMAN	K	791;791;765;765	ENSP00000303058:E791K;ENSP00000327504:E791K;ENSP00000307419:E765K;ENSP00000421620:E765K	ENSP00000303058:E791K	E	-	1	0	CEP120	122736353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.305000	0.65750	2.678000	0.91216	0.655000	0.94253	GAA		0.294	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		10	42	0	0	0	1	0	10	42				
CCNF	899	broad.mit.edu	37	16	2495538	2495538	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:2495538T>C	ENST00000397066.4	+	10	1097	c.1009T>C	c.(1009-1011)Tgt>Cgt	p.C337R		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	337	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GACCGTGGAGTGTGTGGACCG	0.612																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1009-1011)Tgt>Cgt		cyclin F							103.0	72.0	82.0					16																	2495538		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2495538T>C	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1009T>C	16.37:g.2495538T>C	ENSP00000380256:p.Cys337Arg						p.C337R	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			10	1097	+		Ovarian(90;0.17)	337			Cyclin N-terminal.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1009T>C	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616279	0.66672	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.11169	2.8	5.5	5.5	0.81552	Cyclin, N-terminal (2);Cyclin-like (3);	0.088123	0.85682	D	0.000000	T	0.26231	0.0640	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.01071	-1.1461	10	0.72032	D	0.01	-15.3766	9.0297	0.36252	0.0:0.0831:0.0:0.9169	.	337	P41002	CCNF_HUMAN	R	337;252	ENSP00000380256:C337R	ENSP00000293968:C252R	C	+	1	0	CCNF	2435539	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.021000	0.70832	2.090000	0.63153	0.455000	0.32223	TGT		0.612	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		20	51	0	0	0	1	0	20	51				
MAP3K14	9020	broad.mit.edu	37	17	43367868	43367868	+	RNA	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:43367868C>G	ENST00000344686.2	-	0	352							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCAGCCTGGGCGATGATAGAG	0.627																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							52.0	55.0	54.0					17																	43367868		2008	4168	6176			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43367868C>G	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43367868C>G										Q99558	M3K14_HUMAN			0	352	-								A8K2D8|D3DX67|Q8IYN1	RNA	SNP	ENST00000344686.2	37			.	.	.	.	.	.	.	.	.	.	C	23.1	4.376423	0.82682	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.83133	0.5188	.	.	.	0.35895	D	0.829991	D	0.89917	1.0	D	0.91635	0.999	D	0.84585	0.0663	7	0.87932	D	0	.	17.4506	0.87591	0.0:1.0:0.0:0.0	.	82	Q99558	M3K14_HUMAN	P	82	.	ENSP00000342059:A82P	A	-	1	0	MAP3K14	40723651	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.042000	0.64202	2.804000	0.96469	0.462000	0.41574	GCC		0.627	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		13	38	0	0	0	1	0	13	38				
ZNF208	7757	broad.mit.edu	37	19	22154798	22154798	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:22154798G>A	ENST00000397126.4	-	4	3186	c.3038C>T	c.(3037-3039)tCa>tTa	p.S1013L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1013					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGTTTGATGACCAGTTGAA	0.393																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3037-3039)tCa>tTa		zinc finger protein 208							93.0	100.0	98.0					19																	22154798		2130	4248	6378	SO:0001583	missense	7757							g.chr19:22154798G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3038C>T	19.37:g.22154798G>A	ENSP00000380315:p.Ser1013Leu					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.S1013L	NM_007153.3	NP_009084.2					4	3186	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3038C>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	4.932	0.173167	0.09391	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07688	3.17	2.58	-3.64	0.04515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.46373	-0.9196	8	0.22706	T	0.39	.	0.1895	0.00133	0.2876:0.1507:0.2003:0.3615	.	885	O43345	ZN208_HUMAN	L	1013;885	ENSP00000380315:S1013L	ENSP00000380315:S1013L	S	-	2	0	ZNF208	21946638	0.000000	0.05858	0.002000	0.10522	0.128000	0.20619	-7.023000	0.00046	-0.062000	0.13088	0.289000	0.19496	TCA		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		31	115	0	0	0	1	0	31	115				
IL4I1	259307	broad.mit.edu	37	19	50399114	50399114	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:50399114G>A	ENST00000391826.2	-	3	352	c.210C>T	c.(208-210)gcC>gcT	p.A70A	IL4I1_ENST00000595948.1_Silent_p.A92A|IL4I1_ENST00000341114.3_Silent_p.A92A	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCACCAGCCCGGCCACACCAG	0.627																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(274-276)gcC>gcT		interleukin 4 induced 1							100.0	107.0	105.0					19																	50399114		2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50399114G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.210C>T	19.37:g.50399114G>A						IL4I1_ENST00000391826.2_Silent_p.A70A|IL4I1_ENST00000341114.3_Silent_p.A92A	p.A92A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	5	896	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	70					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.276C>T	CCDS12787.1																																																																																				0.627	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			56	242	0	0	0	1	0	56	242				
CLASP2	23122	broad.mit.edu	37	3	33592770	33592770	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:33592770C>G	ENST00000468888.2	-	30	3197	c.3151G>C	c.(3151-3153)Gaa>Caa	p.E1051Q	CLASP2_ENST00000359576.5_Missense_Mutation_p.E1042Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E532Q|CLASP2_ENST00000539981.1_Missense_Mutation_p.E820Q|CLASP2_ENST00000399362.4_Missense_Mutation_p.E1050Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E810Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E830Q			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	831	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTGGGTTCTGTTGTCCAA	0.388																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3148-3150)Gaa>Caa		cytoplasmic linker associated protein 2							101.0	97.0	98.0					3																	33592770		1826	4076	5902	SO:0001583	missense	23122							g.chr3:33592770C>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3151G>C	3.37:g.33592770C>G	ENSP00000419974:p.Glu1051Gln					CLASP2_ENST00000359576.5_Missense_Mutation_p.E1042Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E532Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E830Q|CLASP2_ENST00000539981.1_Missense_Mutation_p.E820Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E810Q|CLASP2_ENST00000468888.2_Missense_Mutation_p.E1051Q	p.E1050Q	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			30	3501	-			1052					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3148G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.57|18.57	3.652001|3.652001	0.67472|0.67472	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133|ENST00000480385	T;T;T;T;T;T;T|.	0.66638|.	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73837|0.73837	0.3638|0.3638	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B;D;B|.	0.67145|.	0.004;0.996;0.279|.	B;D;B|.	0.78314|.	0.015;0.991;0.128|.	T|T	0.72646|0.72646	-0.4230|-0.4230	10|5	0.72032|.	D|.	0.01|.	-25.0587|-25.0587	17.4201|17.4201	0.87512|0.87512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	831;1042;1050|.	O75122;F5H604;E7ERI8|.	CLAP2_HUMAN;.;.|.	Q|T	1051;1050;1042;532;820;830;810|106	ENSP00000419974:E1051Q;ENSP00000382297:E1050Q;ENSP00000352581:E1042Q;ENSP00000304743:E532Q;ENSP00000439039:E820Q;ENSP00000417518:E830Q;ENSP00000419305:E810Q|.	ENSP00000304743:E532Q|.	E|R	-|-	1|2	0|0	CLASP2|CLASP2	33567774|33567774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.770000|7.770000	0.85390|0.85390	2.606000|2.606000	0.88127|0.88127	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.388	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		46	65	0	0	0	1	0	46	65				
OR2D3	120775	broad.mit.edu	37	11	6942996	6942996	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:6942996C>T	ENST00000317834.3	+	1	792	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCTTTTTCCACCTGTGGC	0.453																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(763-765)tCc>tTc		olfactory receptor, family 2, subfamily D, member 3							126.0	119.0	121.0					11																	6942996		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942996C>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.764C>T	11.37:g.6942996C>T	ENSP00000320560:p.Ser255Phe						p.S255F	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	792	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	255					B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.764C>T	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379664	0.42207	.	.	ENSG00000178358	ENST00000317834	T	0.00311	8.15	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000699	T	0.00608	0.0020	M	0.92923	3.36	0.09310	N	1	P	0.35872	0.525	B	0.44163	0.443	T	0.11299	-1.0593	10	0.72032	D	0.01	-30.414	16.5766	0.84681	0.0:1.0:0.0:0.0	.	255	Q8NGH3	OR2D3_HUMAN	F	255	ENSP00000320560:S255F	ENSP00000320560:S255F	S	+	2	0	OR2D3	6899572	0.001000	0.12720	0.303000	0.25071	0.944000	0.59088	0.759000	0.26461	2.865000	0.98341	0.655000	0.94253	TCC		0.453	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		32	94	0	0	0	1	0	32	94				
SMAD1	4086	broad.mit.edu	37	4	146460987	146460987	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:146460987C>T	ENST00000515385.1	+	3	974	c.432C>T	c.(430-432)agC>agT	p.S144S	SMAD1_ENST00000302085.4_Silent_p.S144S|SMAD1_ENST00000394092.2_Silent_p.S144S			Q15797	SMAD1_HUMAN	SMAD family member 1	144					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CAAGACACAGCGAATATAATC	0.413																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(430-432)agC>agT		SMAD family member 1							103.0	95.0	97.0					4																	146460987		2203	4300	6503	SO:0001819	synonymous_variant	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146460987C>T	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.432C>T	4.37:g.146460987C>T						SMAD1_ENST00000394092.2_Silent_p.S144S|SMAD1_ENST00000302085.4_Silent_p.S144S	p.S144S			Q15797	SMAD1_HUMAN			3	974	+	all_hematologic(180;0.151)		144					A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	ENST00000515385.1	37	c.432C>T	CCDS3765.1																																																																																				0.413	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		11	72	0	0	0	1	0	11	72				
APOF	319	broad.mit.edu	37	12	56755864	56755864	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:56755864C>T	ENST00000398189.3	-	2	203	c.126G>A	c.(124-126)caG>caA	p.Q42Q	STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Silent_p.Q24Q|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	42					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						AGACATTTGTCTGCTTTCCAT	0.517																																						ENST00000398189.3																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(124-126)caG>caA		apolipoprotein F							112.0	114.0	113.0					12																	56755864		2110	4228	6338	SO:0001819	synonymous_variant	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755864C>T	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.126G>A	12.37:g.56755864C>T						APOF_ENST00000541105.1_Silent_p.Q24Q	p.Q42Q	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN			2	203	-			42					Q8TC13	Silent	SNP	ENST00000398189.3	37	c.126G>A	CCDS44923.1																																																																																				0.517	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			58	95	0	0	0	1	0	58	95				
RBMX2	51634	broad.mit.edu	37	X	129545370	129545370	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:129545370C>T	ENST00000305536.6	+	5	416	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	118							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTATCGGGCTCCTAAGGACTC	0.493																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(352-354)Cct>Tct		RNA binding motif protein, X-linked 2							145.0	128.0	134.0					X																	129545370		1890	4103	5993	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129545370C>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.352C>T	X.37:g.129545370C>T	ENSP00000339090:p.Pro118Ser					RBMX2_ENST00000469953.1_3'UTR	p.P118S	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			5	416	+			118					A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.352C>T	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582805	0.86748	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.15834	2.39	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.87097	2.86	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.55244	-0.8171	10	0.87932	D	0	.	15.2568	0.73591	0.0:1.0:0.0:0.0	.	118	Q9Y388	RBMX2_HUMAN	S	118	ENSP00000339090:P118S	ENSP00000339090:P118S	P	+	1	0	RBMX2	129373051	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.747000	0.74872	2.281000	0.76405	0.529000	0.55759	CCT		0.493	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		84	35	0	0	0	1	0	84	35				
C5orf22	55322	broad.mit.edu	37	5	31534463	31534463	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:31534463G>T	ENST00000325366.9	+	2	293	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	C5orf22_ENST00000355907.3_5'UTR|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_5'Flank|DROSHA_ENST00000511367.2_5'Flank	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	56										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CTCACATCCAGACCTCCTTAT	0.398																																						ENST00000325366.9																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						c.(166-168)Gac>Tac		chromosome 5 open reading frame 22							171.0	159.0	163.0					5																	31534463		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31534463G>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.166G>T	5.37:g.31534463G>T	ENSP00000326879:p.Asp56Tyr					C5orf22_ENST00000355907.3_5'UTR	p.D56Y	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN			2	293	+			56					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.166G>T	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748319	0.89663	.	.	ENSG00000082213	ENST00000325366;ENST00000507818	D;D	0.90385	-2.66;-2.66	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.96188	0.8757	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96633	0.9468	10	0.87932	D	0	-10.8992	19.3532	0.94398	0.0:0.0:1.0:0.0	.	56	Q49AR2	CE022_HUMAN	Y	56	ENSP00000326879:D56Y;ENSP00000430860:D56Y	ENSP00000326879:D56Y	D	+	1	0	C5orf22	31570220	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.821000	0.92009	2.559000	0.86315	0.655000	0.94253	GAC		0.398	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		49	137	1	0	8.94452e-30	1	9.42369e-30	49	137				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	73	0	0	0	1	0	4	73				
CLDN7	1366	broad.mit.edu	37	17	7164179	7164179	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:7164179G>A	ENST00000360325.7	-	2	783	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	CLDN7_ENST00000397317.4_Missense_Mutation_p.R117C|CLDN7_ENST00000538261.3_Missense_Mutation_p.R117C|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000571881.2_Missense_Mutation_p.P108L|RP1-4G17.5_ENST00000577138.1_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	117					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ATGGCTATACGGGCCTTCTTC	0.607																																						ENST00000538261.3																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(349-351)Cgt>Tgt		claudin 7							139.0	115.0	123.0					17																	7164179		2203	4300	6503	SO:0001583	missense	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7164179G>A	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.349C>T	17.37:g.7164179G>A	ENSP00000353475:p.Arg117Cys					CLDN7_ENST00000360325.7_Missense_Mutation_p.R117C|CLDN7_ENST00000571881.2_Missense_Mutation_p.P108L|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.R117C	p.R117C	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN			2	1250	-			117					B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	c.349C>T	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207116	0.95033	.	.	ENSG00000181885	ENST00000360325;ENST00000397317;ENST00000538261	D;D;D	0.87256	-2.09;-2.09;-2.23	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	H	0.95224	3.64	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	D	0.96499	0.9370	10	0.87932	D	0	.	14.9092	0.70743	0.0:0.0:1.0:0.0	.	117;117	F5H496;O95471	.;CLD7_HUMAN	C	117	ENSP00000353475:R117C;ENSP00000396638:R117C;ENSP00000445131:R117C	ENSP00000353475:R117C	R	-	1	0	CLDN7	7104903	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	3.675000	0.54605	2.375000	0.81037	0.462000	0.41574	CGT		0.607	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		4	102	0	0	0	1	0	4	102				
PRPF40A	55660	broad.mit.edu	37	2	153533991	153533991	+	Splice_Site	DEL	T	T	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:153533991delT	ENST00000410080.1	-	9	1173		c.e9-2			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGATCATTGCTATTAAAGAGA	0.269																																						ENST00000410080.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						c.e9-2		PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)							34.0	32.0	33.0					2																	153533991		1777	4038	5815	SO:0001630	splice_region_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153533991delT	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.632-2A>-	2.37:g.153533991delT								NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN			9	1173	-								O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	DEL	ENST00000410080.1	37		CCDS46430.1																																																																																				0.269	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	Intron	2	4						2	4	---	---	---	---
ZNRF2P2	100271874	broad.mit.edu	37	7	29699825	29699825	+	RNA	DEL	T	T	-	rs57470450		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:29699825delT	ENST00000426767.1	-	0	366					NR_024278.1				zinc and ring finger 2 pseudogene 2																		ATTATTGACCTTTTTTTTTTC	0.254																																						ENST00000426767.1																			0																																																			100271874							g.chr7:29699825delT			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29699825delT								NR_024278.1						0	366	-									RNA	DEL	ENST00000426767.1	37																																																																																						0.254	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		2	4						2	4	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:128434467_128434469delGAA	ENST00000297788.4	+	2	449_451	c.82_84delGAA	c.(82-84)gaadel	p.E32del	CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del|CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	32	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(82-84)del		coiled-coil domain containing 136			,	48,4104		6,36,2034					,	-6.6	0.0			26	80,7936		7,66,3935	no	coding,coding	CCDC136	NM_022742.4,NM_001201372.1	,	13,102,5969	A1A1,A1R,RR		0.998,1.1561,1.0519	,	,		128,12040				SO:0001651	inframe_deletion	64753					integral to membrane	protein binding	g.chr7:128434467_128434469delGAA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.82_84delGAA	7.37:g.128434476_128434478delGAA	ENSP00000297788:p.Glu32del					CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del|CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del	p.E32del	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			2	449_451	+			32			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	In_Frame_Del	DEL	ENST00000297788.4	37	c.82_84delGAA	CCDS47704.1																																																																																				0.552	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		2	4						2	4	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)ctgdel	p.L138del	TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(412-414)del		trypsin domain containing 1			,	28,3524		5,18,1753					,	3.1	1.0			5	76,7040		14,48,3496	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	19,66,5249	A1A1,A1R,RR		1.068,0.7883,0.9749	,	,		104,10564				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905929_71905931delCAG	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.412_414delCTG	10.37:g.71905938_71905940delCAG	ENSP00000287078:p.Leu138del					TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	411_413	-			138					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.412_414delCTG	CCDS31213.1																																																																																				0.739	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		2	4						2	4	---	---	---	---
NEURL1	9148	broad.mit.edu	37	10	105344726	105344726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr10:105344726delC	ENST00000369780.4	+	4	1492	c.1083delC	c.(1081-1083)gacfs	p.D361fs	NEURL_ENST00000369777.2_Frame_Shift_Del_p.D344fs	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		361	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCACGTGCGACCCCGGCACGC	0.746																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1081-1083)gafs									4.0	4.0	4.0					10																	105344726		1862	3711	5573	SO:0001589	frameshift_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105344726delC																												ENST00000369780.4:c.1083delC	10.37:g.105344726delC	ENSP00000358795:p.Asp361fs					NEURL_ENST00000369777.2_Frame_Shift_Del_p.D344fs	p.D361fs	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	1492	+			361			NHR 2.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Frame_Shift_Del	DEL	ENST00000369780.4	37	c.1083delC	CCDS7551.1																																																																																				0.746	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			2	4						2	4	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6058985	6058986	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:6058985_6058986insT	ENST00000261405.5	-	51	8473_8474	c.8219_8220insA	c.(8218-8220)aagfs	p.K2740fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2740	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTACTTCAGACTTACAGCTTCC	0.54																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(8218-8220)atcfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6058985_6058986insT		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8220dupA	12.37:g.6058987_6058987dupT	ENSP00000261405:p.Lys2740fs						p.I2740fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			51	8473_8474	-			2740			CTCK.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.8219_8220insA	CCDS8539.1																																																																																				0.540	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		29	77						29	77	---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114538573	114538574	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr13:114538573_114538574delCC	ENST00000327773.6	-	7	770_771	c.624_625delGG	c.(622-627)ggggagfs	p.E209fs	GAS6_ENST00000357389.3_Frame_Shift_Del_p.E209fs|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Frame_Shift_Del_p.E155fs|GAS6_ENST00000450766.1_5'UTR|GAS6_ENST00000418959.3_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	209	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CAGCGCGCCTCCCCGCAGGCCT	0.649																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(622-627)ggagfs		growth arrest-specific 6																																				SO:0001589	frameshift_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114538573_114538574delCC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.624_625delGG	13.37:g.114538575_114538576delCC	ENSP00000331831:p.Glu209fs					GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Frame_Shift_Del_p.GE154fs|GAS6_ENST00000450766.1_5'UTR|GAS6_ENST00000327773.6_Frame_Shift_Del_p.GE208fs	p.GE208fs			Q14393	GAS6_HUMAN			7	776_777	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	208			EGF-like 3; calcium-binding (Potential).		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Del	DEL	ENST00000327773.6	37	c.624_625delGG	CCDS45072.1																																																																																				0.649	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		26	34						26	34	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			5	8						5	8	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48205190	48205190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:48205190delC	ENST00000396720.3	+	15	4395	c.4201delC	c.(4201-4203)ccgfs	p.P1401fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1401										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTGGCGCGCCGGAGGGGAC	0.791																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(4201-4203)cgfs		glioma tumor suppressor candidate region gene 1							1.0	1.0	1.0					19																	48205190		613	1350	1963	SO:0001589	frameshift_variant	29998						protein binding	g.chr19:48205190delC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.4201delC	19.37:g.48205190delC	ENSP00000379946:p.Pro1401fs					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P1401fs	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	4395	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1401					A8MW01	Frame_Shift_Del	DEL	ENST00000396720.3	37	c.4201delC	CCDS46134.1																																																																																				0.791	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		2	4						2	4	---	---	---	---
